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Sample records for acquired karyotypic abnormality

  1. Case Report: CD19-positive acute myeloblastic leukemia with trisomy 21 as a sole acquired karyotypic abnormality

    Institute of Scientific and Technical Information of China (English)

    Hua-feng WANG; Yi-zhi CHENG; Huan-ping WANG; Zhi-mei CHEN; Ji-yu LOU; Jie JIN

    2009-01-01

    We report that a 63-year-old Chinese female had acute myeloblastic leukemia (AML) in which trisomy 21 (+21) was found as the sole acquired karyotypic abnormality. The blasts were positive for myeloperoxidase, and the immunophenotype was positive for cluster of differentiation 19 (CDI9), CD33, CD34, and human leukocyte antigens (HLA)-DR. The chromosomal analysis of bone marrow showed 47,XX,+21 [2]/46,XX[18]. Fluorescent in situ hybridization (FISH) showed that three copies of AML1 were situated in separate chromosomes, and that t(8;21) was negative. The patient did not have any features of Down syndrome. A diagnosis of CD19-positive AML-M5 was established with trisomy 21 as a sole acquired karyotypic abnormality. The patient did not respond well to chemotherapy and died three months after the diagnosis. This is the first reported case of CD19-positive AM L with trisomy 21 as the sole cytogenetic abnormality. The possible prognostic significance of the finding in AML with +21 as the sole acquired karyotypic abnormality was discussed.

  2. Robin sequence associated with karyotypic mosaicism involving chromosome 22 abnormalities

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    Salinas, C.F.; Jastrzab, J.M.; Centu, E.S. [Medical Univ. of South Carolina, Charleston, SC (United States)

    1994-09-01

    Robin sequence is characterized by cleft palate, hypoplastic mandible, glossoptosis and respiratory difficulties. The Robin sequence may be observed as an isolated defect or as part of about 33 syndromes; however, to our knowledge, it has never been reported associated with chromosome 22 abnormalities. We examined a two-month-old black boy with a severe case of Robin sequence. Exam revealed a small child with hypoplastic mandible, glossoptosis, high palate and respiratory difficulty with continuous apnea episodes resulting in cyanotic lips and nails. In order to relieve the upper airway obstruction, his tongue was attached to the lower lip. Later a tracheostomy was performed. On follow-up exam, this patient was found to have developmental delay. Cytogenetic studies of both peripheral blood and fibroblast cells showed mosaicism involving chromosome 22 abnormalities which were designated as follows: 45,XY,-22/46,XY,-22,+r(22)/46,XY. Fluorescence in situ hybridization (FISH) studies confirmed the identity of the r(22) and showed the presence of the DiGeorge locus (D22575) but the absence of the D22539 locus which maps to 22q13.3. Reported cases of r(22) show no association with Robin sequence. However, r(22) has been associated with flat bridge of the nose, bulbous tip of the nose, epicanthus and high palate, all characteristics that we also observed in this case. These unusual cytogenetic findings may be causally related to the dysmorphology found in the patient we report.

  3. Karyotypic abnormalities and clinical aspects of patients with multiple myeloma and related paraproteinemic disorders

    Energy Technology Data Exchange (ETDEWEB)

    Liang, W.; Hopper, J.E.; Rowley, J.D.

    1979-08-01

    Karyotypic abnormalities were detected in the malignant cells of 6 of 18 patients with multiple myeloma (MM). Six patients with benign monoclonal gammopathy, one with amyloidosis of immunoglobulin origin, and two with Waldenstroem's macroglobulinemia had normal karyotypes. All six MM patients with aneuploidy were in a group of 10 patients in an accelerated or relapse phase of their disease and four had high serum paraprotein levels when their abnormal karyotypes were detected. Five of the 6 MM patients with aneuploidy had received prior chemotherapy. Aneuploidy was not observed in 8 stable MM patients. Abnormalities of chromosome 14 were present in all 6 patients. A translocation between Nos. 11 and 14 was found in aneuploid cells of 2 patients who had plasma cell leukemia (PCL). A deletion of chromosome 6 was detected in 2 MM patients and a pericentric inversion of No. 6 was seen in the patient with PCL. Three of 4 MM patients had a nonrandom loss of one chromosome 8. Two other MM patients developed acute nonlymphocytic leukemia (ANLL) after the diagnosis of MM. Marrow cells of one patient showed a 5q- chromosome and a constitutional translocation involving Nos. 13 and 14 during the preleukemic stage; during the leukemic phase, the karyotype evolved to 50 chromosomes including extra chromosomes 1, 6, 8, 10, and 21 and a missing 7, in addition to the originally detected 5q- and the 13/14 translocation.The peripheral blood from the other patient was hypodiploid, with a missing chromosome 7 and a translocation between 3q and 9p. These patterns of chromosome change resemble those of ANLL rather than MM and are similar to the changes seen in ANLL after treated malignant lymphoma.

  4. Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

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    Anguiano Arturo

    2012-01-01

    Full Text Available Abstract Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of 179 consecutive clinical samples (31 prenatal and 148 postnatal submitted for spectral karyotyping. Over 90% of the cases were requested to identify either small supernumerary marker chromosomes (sSMCs or chromosomal exchange material detected by G-banded chromosome analysis. We also reviewed clinical indications of those cases with marker chromosomes in which chromosomal origin was identified by spectral karyotyping. Our results showed that spectral karyotyping identified the chromosomal origin of marker chromosomes or the source of derivative chromosomal material in 158 (88% of the 179 clinical cases; the identification rate was slightly higher for postnatal (89% compared to prenatal (84% cases. Cases in which the origin could not be identified had either a small marker chromosome present at a very low level of mosaicism (

  5. Monosomal karyotype predicts poor survival after allogeneic stem cell transplantation in chromosome 7 abnormal myelodysplastic syndrome and secondary acute myeloid leukemia

    NARCIS (Netherlands)

    Gelder, M. van; Wreede, L.C. de; Schetelig, J.; Biezen, A. van; Volin, L.; Maertens, J.; Robin, M.; Petersen, E.; Witte, T.J.M. de; Kroger, N.

    2013-01-01

    Treatment algorithms for poor cytogenetic-risk myelodysplastic syndrome (MDS), defined by chromosome 7 abnormalities or complex karyotype (CK), include allogeneic stem cell transplantation (alloSCT). We studied outcome of alloSCT in chromosome 7 abnormal MDS patients as this data are scarce in liter

  6. CT evaluation of congenital and acquired abnormalities of the azygos system.

    Science.gov (United States)

    Dudiak, C M; Olson, M C; Posniak, H V

    1991-03-01

    Congenital and acquired abnormalities may alter the anatomy, size, or position of the azygos system. Computed tomography is often able to depict these abnormalities and in many cases indicate the cause. In this article, the normal anatomy of the azygos system is discussed and examples of congenital and acquired abnormalities are presented.

  7. Clonal karyotypic abnormalities in colorectal adenomas: clues to the early genetic events in the adenoma-carcinoma sequence

    DEFF Research Database (Denmark)

    Bomme, L; Bardi, G; Pandis, N

    1994-01-01

    Cytogenetic analysis of short-term cultures from colorectal adenomas revealed acquired clonal chromosome aberrations in 14 of 17 tumors. In 4 adenomas, only numerical changes were found, whereas 10 had structural rearrangements. Trisomy 7 was found as the sole change in one of the tumors and toge......Cytogenetic analysis of short-term cultures from colorectal adenomas revealed acquired clonal chromosome aberrations in 14 of 17 tumors. In 4 adenomas, only numerical changes were found, whereas 10 had structural rearrangements. Trisomy 7 was found as the sole change in one of the tumors...... and together with other numerical changes in another. A +7 was also present in one case with structural aberrations. Other recurrent numerical aberrations were -14 and -18, both found in 2 adenomas with structural karyotypic changes; in addition, one chromosome 14 was lost in one of the tumors with only...

  8. The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.

    Science.gov (United States)

    Demyda-Peyrás, S; Anaya, G; Bugno-Poniewierska, M; Pawlina, K; Membrillo, A; Valera, M; Moreno-Millán, M

    2014-05-01

    Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred colt, primarily detected using a commercial panel of short tandem repeat (STR) makers. Based on these results, we performed a full cytogenetic analysis using conventional and fluorescent in situ hybridization techniques with individual Equus caballus chromosome X and Equus caballus chromosome Y painting probes. We also tested the presence of two genes associated with the sexual development in horses and an extra novel panel of eight microsatellite markers specifically located in the sex chromosome pair. This is the first case report of a leukocyte chimerism between chromosomally normal (64,XY) and abnormal (63,X0) cell lines in horses. Our results indicate that the use of the short tandem repeat markers as a screening technique and as a confirmation utilizing cytogenetic techniques can be used as a very interesting, easy, and nonexpensive diagnostic approach to detect chromosomal abnormalities in the domestic horse.

  9. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples.

    Science.gov (United States)

    Zhou, Qinghua; Wu, Shen-Yin; Amato, Katherine; DiAdamo, Autumn; Li, Peining

    2016-03-20

    Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants (CNVs) in products of conception (POC) and the underlying gene-dosage-sensitive mechanisms causing spontaneous abortions remain largely unknown. In this study, array comparative genomic hybridization (aCGH) analysis was performed as a salvage procedure for 128 POC culture failure (POC-CF) samples and as a supplemental procedure for 106 POC normal karyotype (POC-NK) samples. Chromosomal abnormalities were detected in 10% of POC-CF and pathogenic CNVs were detected in 3.9% of POC-CF and 5.7% of POC-NK samples. Compiled results from this study and relevant case series through a literature review demonstrated an abnormality detection rate (ADR) of 35% for chromosomal abnormalities in POC-CF samples, 3.7% for pathogenic CNVs in POC-CF samples, and 4.6% for pathogenic CNVs in POC-NK samples. Ingenuity Pathway Analysis (IPA) was performed on the genes from pathogenic CNVs found in POC samples. The denoted primary gene networks suggested that apoptosis and cell proliferation pathways are involved in miscarriage. In summary, a similar spectrum of cytogenomic abnormalities was observed in POC culture success and POC-CF samples. A threshold effect correlating the number of dosage-sensitive genes in a chromosome with the observed frequency of autosomal trisomy is proposed. A rationalized approach using firstly fluorescence in situ hybridization (FISH) testing with probes of chromosomes X/Y/18, 13/21, and 15/16/22 for common aneuploidies and polyploidies and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF samples.

  10. SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD.

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    Lukasz P Gondek

    Full Text Available We applied single nucleotide polymorphism arrays (SNP-A to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD, including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML. In typical MPD cases (N = 8, which served as a control group, those with a homozygous V617F mutation showed clear uniparental disomy (UPD of 9p using SNP-A. Consistent with possible genomic instability, in 19/30 MDS/MPD-U patients, we found additional lesions not identified by metaphase cytogenetics. In addition to UPD9p, we also have detected UPD affecting other chromosomes, including 1 (2/30, 11 (4/30, 12 (1/30 and 22 (1/30. Transformation to AML was observed in 8/30 patients. In 5 V617F+ patients who progressed to AML, we show that SNP-A can allow for the detection of two modes of transformation: leukemic blasts evolving from either a wild-type jak2 precursor carrying other acquired chromosomal defects, or from a V617F+ mutant progenitor characterized by UPD9p. SNP-A-based detection of cryptic lesions in MDS/MPD-U may help explain the clinical heterogeneity of this disorder.

  11. Patient with syndromic cleft lip-palate, mosaic karyotype and cytogenetically abnormal brother

    OpenAIRE

    Šliužas, Vytautas; Cimbalistienė, Loreta; Kučinskas, Vaidutis

    2006-01-01

    Objective. Cleft lip with or without cleft palate (CLP) is a common congenital abnormality involving genetic and non-genetic factors in its etiology. Although many studies have been made to find the genetic pattern of this malformation, there is still no precise answer. There have been suggested several models of inheritance where a few major loci are influenced by the number of modifiers. The number of modifiers is still unknown and could be scattered all over the genome. Chromosome rearrang...

  12. Karyotype Analysis of 720 Patients with Abnormal Reproduction%720例生殖异常患者的染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    冯晓琴; 王毅民; 王怀秀; 刘建荣; 李弘

    2015-01-01

    目的:探讨男性少、弱、无精症以及胎停育、畸胎、反复性流产等生殖异常患者的细胞遗传学原因。方法:针对我院720例生殖异常患者,做常规技术的外周血淋巴细胞培养,采用 G 显带法进行染色体核型分析。结果:720例生殖异常患者中,检出异常核型69例。其中,多态性核型为49例,包括9qh +3例,inv(9)1例,Ds +/Gs +10例,Yqh +35例。 Turner 综合征3例,Klinefelter 综合征12例,平衡易位等5例。结论:染色体核型异常与生殖异常存在密切的关系,异常核型会导致男性少、弱、无精症以及畸胎孕产史和妊娠的反复失败,且染色体多态性与生殖异常关系尤为密切,建议临床应给予足够重视。%Objective :To investigate the cytogenetic reason of patients under going reproductive abnormalities such as azoospermia ,malformation fetus ,recurrent spontaneous abortion .Methods :For examination of 720 patients with re‐productive abnormalities ,as a conventional technique of peripheral blood lymphocyte culture ,by using G banding kary‐otype analysis .Results :Of 720 patients with abnormal reproductive ,69 cases of abnormal karyotypes was detected in this study .Among them ,there were 49 cases of the polymorphism karyotype ,including 3 cases in 9qh + ,1 case in inv (9) ,10 cases in Ds + /Gs + ,35 cases in Yqh + ,3 cases in Turner syndrome ,12 cases in Klinefelter syndrome ,5 cases in balanced translocation .Conclusion :Abnormal chromosome karyotype and there is a close relationship between reproduc‐tive abnormalities and abnormal karyotype ,leading azoospermia ,malformation fetus ,recurrent spontaneous abortion and so on .Further more ,the relationship is closer between chromosome polymorphism and reproductive abnormalities , therefore ,much more attention should be given to this point in clinical .

  13. Monosomal karyotype predicts poor survival after allogeneic stem cell transplantation in chromosome 7 abnormal myelodysplastic syndrome and secondary acute myeloid leukemia.

    Science.gov (United States)

    van Gelder, M; de Wreede, L C; Schetelig, J; van Biezen, A; Volin, L; Maertens, J; Robin, M; Petersen, E; de Witte, T; Kröger, N

    2013-04-01

    Treatment algorithms for poor cytogenetic-risk myelodysplastic syndrome (MDS), defined by chromosome 7 abnormalities or complex karyotype (CK), include allogeneic stem cell transplantation (alloSCT). We studied outcome of alloSCT in chromosome 7 abnormal MDS patients as this data are scarce in literature. We specifically focused on the impact of the extra presence of CK and monosomal karyotype (MK). The European Group for Blood and Marrow Transplantation database contained data on 277 adult MDS patients with a chromosome 7 abnormality treated with alloSCT. Median age at alloSCT was 45 years. Median follow-up of patients alive was 5 years. Five-year progression-free survival (PFS) and overall survival (OS) were 22% and 28%, respectively. In multivariate analysis, statistically significant predictors for worse PFS were higher MDS stages treated, but not in complete remission (CR) (hazards ratio (HR) 1.7), and the presence of CK (HR 1.5) or MK (HR 1.8). Negative predictive factors for OS were higher MDS stages treated, but not in CR (HR 1.8), and the presence of CK (HR 1.6) or MK (HR 1.7). By means of the cross-validated log partial likelihood, MK showed to have a better predictive value than CK. The results are relevant when considering alloSCT for higher-stage MDS patients having MK including a chromosome 7 abnormality.

  14. 胎儿染色体核型异常的临床分析%Clinical analysis of fetal chromosomes karyotype abnormalities

    Institute of Scientific and Technical Information of China (English)

    林晓娟; 孙庆梅; 何晓春; 吴菊; 葛婷婷; 代维斯

    2016-01-01

    Objective To study the indications of prenatal diagnosis of fetal chromosome karyotype abnormalities,and provide the basis for prenatal diagnosis and clinical genetic counseling. Methods From October 2010 to April 2014,a total of 5 655 cases of pregnant women who received prenatal diagnosis of fetal karyotype analysis in Prenatal Diagnosis Center,Gansu Provincial Maternity and Child-care Hospital were selected as research subjects.The indications of prenatal diagnosis of the 5 655 cases of pregnant women contained high-risk indications of antenatal serological screening,such as trisomy 21 syndrome risk≥1/270 or trisomy 18 syndrome risk≥1/350 (2 482 cases),age ≥35 years old (1 889 cases),adverse pregnancy history (675 cases),chromosomal abnormalities of one of the couple (49 cases),prenatal ultrasound abnormalities (465 cases),and exposure to the poisonous and harmful substance,drugs that may cause teratogenicity and radical line (95 cases ).All the indications of prenatal diagnosis were uncrossed.Fetal chromosome karyotype abnormalities were diagnosed by amniocentesis. Different kinds of fetal chromosomes karyotype abnormalities, the number and detection rate,the relationship between fetal chromosome karyotype abnormalities and prenatal ultrasound abnormalities were analyzed by retrospective method.And the fetal chromosomes karyotype abnormalities detection rates of different indications of prenatal diagnosis were analyzed by statistical methods.The study protocol was approved by the Ethical Review Board of Investigation in Gansu Provincial Maternity and Child-care Hospital.Informed consent was obtained from each patient before receiving invasive prenatal diagnosis.Results ①Among the 5 655 cases of pregnant women who received invasive prenatal diagnosis,124 cases were detected as fetal chromosomal karyotype abnormalities,and the detection rate was 2.2%.Among 2 482 cases of pregnant women with high-risk indications,1 889 cases with age ≥ 35 years old,675

  15. Single nucleotide polymorphism array-based karyotyping in acute myeloid leukemia or myelodysplastic syndrome with trisomy 8 as the sole chromosomal abnormality.

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    Hahm, Chorong; Mun, Yeung Chul; Seong, Chu Myong; Han, Sung-Hee; Chung, Wha Soon; Huh, Jungwon

    2013-01-01

    The clinical heterogeneity of patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) with trisomy 8 as the sole abnormality may result from cytogenetically undetectable genetic changes. The purpose of this study was to identify hidden genomic aberrations not detected by metaphase cytogenetics (MC) using high-resolution single nucleotide polymorphism array (SNP-A)-based karyotyping in AML/MDS patients with a sole trisomy 8. The study group included 8 patients (3 AML and 5 MDS) and array-based karyotyping was done using whole-genome SNP-A (SNP 6.0 and SNP 2.7M). By SNP-A, additional genomic aberrations not detected by MC were identified in 2 patients: 1 AML patient exhibited a copy-neutral loss of heterozygosity (CN-LOH) of 3q21.1-q29 and 11q13.1-q25 and the other patient with MDS (refractory cytopenia with unilineage dysplasia) had CN-LOH of 2p25.3-p15. In particular, the latter patient progressed to AML 18 months after the diagnosis. In 3 patients, aberrations in addition to trisomy 8 were not identified by SNP-A. In the remaining 3 patients, SNP-A could not detect trisomy 8, while trisomy 8 was found in 25-67% of metaphase cells by MC. This study suggests that additional genomic aberrations may in fact be present even in cases of trisomy 8 as sole abnormality by MC, and SNP-A could be a useful karyotyping tool to identify hidden aberrations such as CN-LOH.

  16. Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and the relationships with polymorphic karyotype and seminal parameters

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    Zaida Sarrate

    2014-12-01

    Full Text Available The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The number of chromosomal units and chiasmata count per bivalent were established and a hierarchical cluster analysis of the individuals was performed. The relationship of the seminogram and the karyotype over recombination were evaluated using Poisson regression models. Results obtained in this study show a significant percentage of infertile individuals with altered meiotic behavior, mostly specified as a reduction in chiasmata count in medium and large chromosomes, the presence of univalents, and the observation of tetraploid metaphases. Moreover, the number and the type of anomalies were found to be different between cells of the same individual, suggesting the coexistence of cell lines with normal meiotic behavior and cell lines with abnormalities. In addition, chromosomal abnormalities in metaphase I are significantly associated with oligozoospermia and/or polymorphic karyotype variants.

  17. Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and the relationships with polymorphic karyotype and seminal parameters.

    Science.gov (United States)

    Sarrate, Zaida; Vidal, Francesca; Blanco, Joan

    2014-01-01

    The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The number of chromosomal units and chiasmata count per bivalent were established and a hierarchical cluster analysis of the individuals was performed. The relationship of the seminogram and the karyotype over recombination were evaluated using Poisson regression models. Results obtained in this study show a significant percentage of infertile individuals with altered meiotic behavior, mostly specified as a reduction in chiasmata count in medium and large chromosomes, the presence of univalents, and the observation of tetraploid metaphases. Moreover, the number and the type of anomalies were found to be different between cells of the same individual, suggesting the coexistence of cell lines with normal meiotic behavior and cell lines with abnormalities. In addition, chromosomal abnormalities in metaphase I are significantly associated with oligozoospermia and/or polymorphic karyotype variants.

  18. Interactive Karyotyping Training

    Directory of Open Access Journals (Sweden)

    Ashwin Kotwaliwale

    2013-01-01

    Full Text Available Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities. Global short age of cytogenetic trainers and a time consuming training process makes Karyotyping training difficult. We have developed a web based interactive Karyotyping training tool, KaryoTutor©, that allows technologists to learn karyotyping in an interactive environment and aids the trainer in the training process. KaryoTutor©provides visual clues for identifying abnormal chromosomes, provides instant test scores and includes a reference library of ideograms,sample chromosome images and reference materials. Trainees are able to recursively work on a case till a satisfactory result is achieved,with KaryoTutor providing interactive inputs.Additionally, trainers can assign cases and monitor trainee progress using audit trail management and other administrative features.

  19. The portal vein in children: radiological review of congenital anomalies and acquired abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Corness, Jonathan A.G.; McHugh, Kieran; Roebuck, Derek J. [Great Ormond Street Hospital for Children, Department of Radiology, London (United Kingdom); Taylor, Andrew M. [Institute of Child Health, Cardiothoracic Unit, London (United Kingdom)

    2006-02-01

    A variety of portal vein anomalies that occur in children can be identified by US, CT, MRI and portal venography. Although these abnormalities can also occur in adults, there are certain pathological processes and aberrations within the portal system that are specific to children. Knowledge of the embryology and anatomy of the portal vein is of benefit in the understanding of these anomalies. Identifying deviations from normal portal architecture is important in the work-up for surgery such as liver transplantation, and prior to interventional procedures such as stent placement or embolization. The aim of this paper is to summarize the various types of congenital and acquired portal vein abnormalities that occur in children, describe their radiological features and provide images to demonstrate the differences from normal portal venous anatomy. (orig.)

  20. Abnormal benzodiazepine and zinc modulation of GABAA receptors in an acquired absence epilepsy model.

    Science.gov (United States)

    Wu, Jie; Ellsworth, Kevin; Ellsworth, Marc; Schroeder, Katherine M; Smith, Kris; Fisher, Robert S

    2004-07-01

    Brain cholesterol synthesis inhibition (CSI) at a young age in rats has been shown to be a faithful model of acquired absence epilepsy, a devastating condition for which few therapies or models exist. We employed the CSI model to study cellular mechanisms of acquired absence epilepsy in Long-Evans Hooded rats. Patch-clamp, whole-cell recordings were compared from neurons acutely dissociated from the nucleus reticularis of thalamus (nRt) treated and untreated with a cholesterol synthesis inhibitor, U18666A. In U18666A-treated animals, 91% of rats developed EEG spike-waves (SWs). Patchclamp results revealed that although there was no remarkable change in GABAA receptor affinity, both a loss of ability of benzodiazepines to enhance GABAA-receptor responses and an increase of Zn2+ inhibition of GABAA-receptor responses of nRt neurons occurred in Long-Evans Hooded rats previously administered U18666A. This change was specific, since no significant changes were found in neurons exposed to the GABA allosteric modulator, pentobarbital. Taken collectively, these findings provide evidence for abnormalities in benzodiazepine and Zn2+ modulation of GABAA receptors in the CSI model, and suggest that decreased gamma2 subunit expression may underlie important aspects of generation of thalamocortical SWs in atypical absence seizures. The present results are also consistent with recent findings that mutation of the gamma2 subunit of the GABAA receptor changes benzodiazepine modulation in families with generalized epilepsy syndromes.

  1. The study of the karyotype analysis results of 358 couples with abnormal pregnancy history%358例不良孕产史夫妇的染色体核型分析

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    应香朵; 程启航

    2011-01-01

    目的 探讨具有不良孕产史夫妇的不良孕产史与染色体核型异常的关系.方法 采用外周血淋巴细胞培养技术,对358例具有不良孕产史的夫妇进行常规G显带核型分析.结果 358例不良孕产史夫妇中,共检出异常染色体核型39例,异常率为10.89%.其中随体变异13例,9号染色体臂间倒位9例,副缢痕的增长8例,相互易位7例,数目异常2例.染色体异常在男女发生的比例相当.结论 染色体核型异常是导致不良孕产史的重要原因之一,对不良孕产史夫妇双方进行细胞遗传学检查,提供优生咨询,再孕指导与监测,能够有效防止患儿出生,提高出生人口素质.%Objective: To investigate the relationship of abnormal pregnancy history and karyotype abnormality in 358 couples.Methods: The G - banding Patterns of the Chromosomes in 358 couples with abnormal pregnancy history were studied by Culture of Peripheral Blood Lymphocytes. Results: 39 karyotype abnormalities were detected in 358 couples, abnomal karyotype rate was 10. 89%.Among 39 cases, 13 had chromosome satellile varaiations, 9 had pericentric inversion 9, 8 had extended secondary constriction, 7 had balanced translocations, 2 had abnormal chromosome number. The abnomal karyotype rate was same between men and women.Conclusion: The karyotype abnormality is one of the important reasons of abnormal pregnancy. Cytogenetical study, eugenic advice,pregnancy guide and monitoring for couples with abnormal pregnancy history is useful to population quality.

  2. Children's chromosome with abnormal karyotypes and clinical analysis in Huzhou city%湖州地区遗传咨询儿童染色体异常核型及临床分析

    Institute of Scientific and Technical Information of China (English)

    翁学军; 沈国松

    2012-01-01

    Objective: Through the study of genetic counseling children's chromosome with abnormal karyotypes characteristics, in order to provide a scientific basis for reducing the birth rate of children with chromosome disease of the region and improving population quality. Method; To analyze the chromosome karyotype of peripheral blood of the children who have the clinical manifestations of mental retardation, growth retardation, congenital malformation. Result: 93 cases were found abnormal chromosome karyotype, abnormal detection rate 38. 43% ; 80 cases were autosomal abnormal karyotype, accounting for the total number of checks of 33. 06% , accounting for abnormal number of 86. 02% , 13 cases were abnormal of the sex chromosome karyotype, accounting for the total number of checks of 5. 37% , accounting for the number of abnormal of 13. 98%. Conclusion; Chromosomal abnormalities is one important cause leading to children's mental retardation, growth retardation, congenital malformations, or even death, strengthen health education and genetic counseling during pregnancy, further increase the intensity of prenatal screening and prenatal diagnosis, and continuously improve the diagnostic accuracy of chromosomal diseases, is an effective means to reduce the birth rate of chromosomal sick children and improve the quality of birth.%目的 通过探讨我院遗传咨询儿童染色体异常核型特点,为降低本地区染色体病患儿的出生率、提高出生人口素质提供科学依据.方法 对临床表现为智能低下、生长发育迟缓、先天畸形、特殊表型等儿童进行外周血染色体核型分析.结果 发现染色体异常核型93例,异常检出率为38.43%;其中常染色体异常核型80例,占总检查数的33.06%,占异常数的86.02%,性染色体异常核型13例,占总检查数的5.37%,占异常数的13.98%.结论 染色体异常是导致儿童智能低下、生长发育迟缓、先天畸形、甚至死亡的重要病因之一,

  3. Classical cytogenetics: karyotyping techniques.

    Science.gov (United States)

    Bates, Steven E

    2011-01-01

    Classical cytogenetics by karyotyping has been utilized in clinical research laboratories for more than 50 years and remains the key method used in the stem cell laboratory to assess the genetic stability of stem cell cultures. It is currently the most readily accessible method for detecting chromosomal abnormalities in pluripotent stem cell cultures. This chapter will describe (1) how to prepare a culture to maximize the number of metaphase cells, (2) how to prepare slides containing chromosome spreads (3) methods used to stain chromosomes, and (4) how to interpret the cytogenetic report.

  4. Chromosomal karyotype analysis in cord blood of 176 abnormal fetus diagnosised duringprenatal ultrasonography%176例超声诊断结构异常胎儿的脐血染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    刘振红; 刘永红; 刘晓玲

    2012-01-01

    目的 探讨对超声诊断结构异常胎儿进行脐血染色体核型分析的意义.方法 选择我院因产前超声诊断胎儿结构异常而自愿行介入性产前诊断的孕妇176例,行脐静脉穿刺,分析脐血细胞染色体核型.结果 脐静脉穿刺成功率为98.86%,脐血细胞培养率为100%.确诊染色体异常胎儿18例(10.23%),其中21-三体综合征6例,18-三体综合征7例,13-三体综合征2例,Turner综合征1例,三体征1例,染色体易位1例.结论 对超声诊断结构异常胎儿进行介入性产前诊断,可以明确是否为染色体异常疾病,有重要的临床意义;脐静脉穿刺因其对母儿风险小,操作简便,且不受妊娠时间的限制而具有重要意义.%Objective: To investigate the value of chromosomal karyotype analysis in cord blood of fetus, which were discovered structural abnormalities during ultrasound diagnosis. Methods: Cordocenteses guided by transabdominal ultrasound were performed on 176 pregnant women in our hospital because the diagnosis of fetal structure exceptions discovered during prenatal ultrasonography, and fetal chromosomal karyotypes were examined. Results: The success rate of cordocenteses was 98. 86% , and chromosomal karyotype a-nalysis was succeed in all of them. 18 cases confirmed chromosomal abnormalities fetus, with 21 - trisome syndrome 6 cases, 18 -trisome syndrome 7 cases, 13 - trisome syndrome 2 cases, Turner syndrome 1 case, triploid 1 case, chromosome translocation 1 case. Conclusion: The interventional prenatal diagnosis on structural abnormalities fetus discovered during ultrasound, can confirm whether the chromosome abnormality disease happen. This have important clinical significance; Because of the low risk to both of mother and the fetus, easy operation as well as not subject to the pregnancy time, the cordocentesis is worth well.

  5. Analysis of abnormal karyotypes of chromosome 21 from 960 cases%960例21号染色体异常核型分析

    Institute of Scientific and Technical Information of China (English)

    索庆丽; 胡晞江; 刘翎; 向萍霞; 冷培

    2012-01-01

    目的 分析30年DS患儿及父母相关资料,为荧光PCR毛细管电泳法快速诊断DS的研究和应用提供科学依据.方法 按常规外周血淋巴细胞培养方法制备染色体标本,经G显带分析,计数30或100个中期分裂相,分析3~5个或5~10个核型,按ISCN标准确定核型结果,采用x2检验统计分析.结果 30年间,DS患儿构成比显著增长,DS患儿构成比男童高于女童,标准型患儿占88.60%,易位型占6.18%,嵌合型占5.11%,20年DS患儿母亲孕龄增加3.5岁.结论 DS是危害儿童健康最主要的遗传病,应不断提高和改进DS的产前筛查及快速诊断技术,加强孕前和孕期DS相关知识宣贯,降低出生缺陷,提高人口素质.%OBJECTIVE To analyze the relevant information of DS children and their parents in the past 30 years in order to provide scientific basis for research and application of rapid diagnosis of DS by using the fluorescent PCR capillary electrophore-sis method. METHODS Chromosome was prepared by conventional peripheral blood lymphocytes culture and G-banding was carried out to analyzing metakinesis and karyotypes. Used x2 test in statistical analysis. RESULTS In the past 30 years, the proportions of DS children significantly increased, constituent ratio of boys was higher than girls. The children with standard kary-otype was 88.60%, with translocation karyotypes was 6.18%, with mosaic karyotype was 5.11%. In the past 20 years, the ges-tational age of DS children' s mothers increased by 3.5 years. CONCLUSION DS is the most important genetic disease which is harmful to children's health. We should continue to enhance and improve the prenatal screening and the rapid diagnostic techniques of DS in order to reduce birth defects and improve population quality.

  6. Analyses the effect of inheritance of sex chromosome abnormal karyotype of the 97 cases patients%97例性染色体核型异常的细胞遗传学分析

    Institute of Scientific and Technical Information of China (English)

    李强; 聂玲; 刘忠强; 王洪强; 王沛涛; 刘芝军

    2013-01-01

    Objective; Discuss sex chromosome effect of sex chromosome abnormal karyotype Methods; Analyses the chromosome karyotype of patient who suffer from ill pregnancy, a men orrhvea, small testicle syndrome, abnormal quality of sperm, barrenness pudendum hypogenesis etc. According to the routine method. Result; 97 patients of sex chromosome abnormal karyotype are detected, there are eighteen types, totally in them. There are 29 cases of big Y chromosome. Accounting for 29. 90% of abnormal karyotypye, 21 cases, 45,XO, accounting for 21.65%. 17 cases 47,XXY, 17.53%, 8 cases 46, X, I (Xq) and 11 case, other sorts of type 11. 34%. The major clinical effects are devined. There are 48 cases of primary amenorrhea and Turner's syndrome, accounting for 46. 45% of sex chromosome abnormal karyotypyepatient. 9 cases small testical syndrome 19. 59% , 16 cases abortion over twice times, 16. 49% , 8 cases, ill delivery history, 8. 25%. 4 cases pudendum malformation 4. 12% , 1 cases, secondary amenorrhea, 1. 03%. Conclusion; Cytogenetic researches show that sex chromosome is one of the major cause of abnormal sexual development and genital.%目的 探讨性染色体核型异常的细胞遗传学效应.方法 对有不良妊娩史、闭经、小睾丸综合症、精液质量异常、不孕症和外生殖器发育不良等患者按常规方法进行染色体核型分析.结果 检出性染色体核型异常患者97例,共18种类型,其中大Y(Y≥18) 29例,占异常核型的29.90%;45,XO 21例,占21.65%; 47,XXY 17例,占17.53%;46,X,i (Xq)和45,XO/46,X,i(Xq)各8例,各占8.25%; 46,XX/45,XO 3例,占3.09%;其他类型11例,占11.34%.主要临床表现分为:原发性闭经及Turner综合征48例,占性染色体核型异常患者的48.45%;小睾丸综合症19例,占19.59%;流产2次及以上患者16例,占16.49%;不良产史8例,占8.25%;外生殖器发育畸形4例,占4.12%;继发性闭经和隐睾各1例,分别占1.03%.结论 细胞遗传学研究表明

  7. 766对不良孕育史夫妇外周血染色体核型分析%766 of abnormal pregnancy couples chromosome karyotype analysis of the peripheral blood

    Institute of Scientific and Technical Information of China (English)

    李春艳; 李卫凯; 梁齐合; 谢志威; 刘健婷

    2015-01-01

    目的:探讨不良孕育史与染色体异常的关系。方法对2011年1~12月于该院就诊的766对具有不良孕育史的夫妇进行外周血淋巴细胞培养,G显带染色体核型分析。结果在766对不良孕育史夫妇中,共检出染色体异常患者86例,染色体异常检出率为5.61%;其中,常染色体数目异常1例、结构异常14例;性染色体数目异常5例,结构异常1例;及染色体多态性65例。结论说明染色体异常与不良孕育史密切相关,异常染色体携带者夫妇在妊娠时应做产前诊断,以避免染色体病患儿的出生。%Objective To explore the relationship between chromosomal abnormalities and abnormal pregnancy .Methods Chro‐mosomal karyotypes were examined in 766 pairs of couples with adverse pregnancy history from 2011 January to December by pe‐riphery blood lymphocyte culture and carried out G banding .Results The detection of 86 cases of patients with abnormal chromo‐somes ,chromosome abnormality rate was 5 .61% ;Among them ,1 cases of abnormal autosomal chromosome number ,67 cases of ab‐normal structure;Sex chromosome abnormality in 5 cases ,13 cases of abnormal structure .Conclusion Description of chromosome abnormalities and abnormal pregnancy is closely related ,The carriers of the couple should have prenatal diagnosis to avoid chromo‐some patients is born .

  8. Comprehensive analysis on 486 fetuses with abnormal chromosomal karyotypes%486例异常胎儿染色体核型综合分析

    Institute of Scientific and Technical Information of China (English)

    赵春荣

    2012-01-01

    目的:通过对产前彩超检查出的异常胎儿进行脐血染色体分析,了解胎儿异常与染色体异常的关系.方法:选择2006年1月~2010年1月在临沂市沂水中心医院产前检查的孕妇,行彩超检查出异常胎儿行引产或分娩,引产前或分娩后抽羊水和脐带血行染色体检查,在显微镜下观察染色体的结构和数量.共486例培养成功,记录染色体异常胎儿的发病时间.结果:486例异常胎儿共查出染色体异常65例,39例数目异常,26例结构异常.65例中21-三体占多数,胎儿染色体异常的发生率与孕妇年龄呈正相关.B超显示轻度畸形,染色体检查确认为21-三体.结论:随着孕妇年龄的增长,胎儿异常及胎儿染色体异常发生率逐渐增加.判定胎儿畸形与染色体异常是否有联系时,畸形的数量、类别、严重程度,胎儿能被超声检查出的时间是重要的参考依据.当临床上B超显示轻度畸形应采集脐血检查排除21-三体.%Objective: To understand the relationship between fetal abnormality and chromosomal abnormality by conducting chromosomal analysis of umbilical cord blood in abnormal fetuses found by prenatal ultrasonography. Methods: The pregnant women who received prenatal examination in the hospital from January 2006 to January 2010 were selected, then the abnormal fetuses detected by color ultrasonography underwent induced abortion or delivery, amniotic fluid samples and umbilical cord samples were obtained before induced abortion or after delivery for chromosomal examination, chromosomal structure and number were observed under microscope. A total of 486 cases were cultured successfully, the onset times of fetuses with chromosomal abnormality was recorded. Results; Among 486 abnormal fetuses, 65 fetuses were found with chromosomal abnormality, including 39 fetuses with chromosomal numerical abnormality and 26 fetuses with chromosomal structural abnormality. The fetuses with trisomy 21 were in the

  9. OC01.03: Atypical karyotypic abnormalities not identified through NIPT: the value of identifying fetal anomalies at the first or second trimester scan?

    DEFF Research Database (Denmark)

    Petersen, Olav Bjørn; Ekelund, Charlotte; Hyett, Jon;

    2015-01-01

    Objectives: Using a population based database including >200,000 Danish pregnancies, we have previously shown that 23% of all phenotypically important chromosomal abnormalities would not be diagnosed using currently available NIPT techniques. The aim of the current study was to assess how many...

  10. Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene.

    Science.gov (United States)

    Han, T T; Ran, J; Ding, X P; Li, L J; Zhang, L Y; Zhang, Y P; Nie, S S; Chen, L

    2013-07-08

    Chromosome abnormalities, Y-chromosome microdeletions, and androgen receptor gene CAG and GGN repeat polymorphisms in infertile Chinese men featuring severe oligospermia and azoospermia were analyzed. Ninety-six fertile men and 189 non-obstructive infertile men, including 125 patients with azoospermia and 64 with severe oligozoospermia, were studied. Seventeen infertile men (9.0%) carried a chromosome abnormality. Twenty (10.6%) carried a Y-chromosome microdeletion. In the remainder of the patients and controls, GGN and CAG repeats were sequenced. Short GGN repeats (n repeats strongly correlated with sperm counts. No significant difference in CAG repeats was found between patients and controls, nor were CAG repeats correlated with sperm counts. However, for CAG repeats ranging between 24 and 25, there was a >2.5-fold risk (OR = 2.539, 95%CI = 1.206-5.344, P repeats in Chinese male infertility.

  11. Karyotypes, B-chromosomes and meiotic abnormalities in 13 populations of Alebra albostriella and A. wahlbergi (Hemiptera, Auchenorrhyncha, Cicadellidae from Greece

    Directory of Open Access Journals (Sweden)

    Valentina Kuznetsova

    2013-11-01

    Full Text Available In this work 13 populations of the leafhopper species Alebra albostriella (Fallén, 1826 (6 populations and A. wahlbergi (Boheman, 1845 (7 populations (Cicadellidae: Typhlocybinae from Greece were studied cytogenetically. We examined chromosomal complements and meiosis in 41 males of A. albostriella sampled from Castanea sativa, Fagus sylvatica and Quercus cerris and in 21 males of A. wahlbergi sampled from C. sativa, Acer opalus and Ulmus sp. The species were shown to share 2n = 22 + X(0 and male meiosis of the chiasmate preductional type typical for Auchenorrhyncha. In all populations of A. albostriella and in all but two populations of A. wahlbergi B chromosomes and/or different meiotic abnormalities including the end-to-end non-homologous chromosomal associations, translocation chains, univalents, anaphasic laggards besides aberrant sperms were encountered. This study represents the first chromosomal record for the genus Alebra and one of the few population-cytogenetic studies in the Auchenorrhyncha.

  12. Karyotypes, B-chromosomes and meiotic abnormalities in 13 populations of Alebra albostriella and A. wahlbergi (Hemiptera, Auchenorrhyncha, Cicadellidae) from Greece.

    Science.gov (United States)

    Kuznetsova, Valentina G; Golub, Natalia V; Aguin-Pombo, Dora

    2013-11-26

    In this work 13 populations of the leafhopper species Alebra albostriella (Fallén, 1826) (6 populations) and A. wahlbergi (Boheman, 1845) (7 populations) (Cicadellidae: Typhlocybinae) from Greece were studied cytogenetically. We examined chromosomal complements and meiosis in 41 males of A. albostriella sampled from Castanea sativa, Fagus sylvatica and Quercus cerris and in 21 males of A. wahlbergi sampled from C. sativa, Acer opalus and Ulmus sp. The species were shown to share 2n = 22 + X(0) and male meiosis of the chiasmate preductional type typical for Auchenorrhyncha. In all populations of A. albostriella and in all but two populations of A. wahlbergi B chromosomes and/or different meiotic abnormalities including the end-to-end non-homologous chromosomal associations, translocation chains, univalents, anaphasic laggards besides aberrant sperms were encountered. This study represents the first chromosomal record for the genus Alebra and one of the few population-cytogenetic studies in the Auchenorrhyncha.

  13. 杜安眼球后退综合征和染色体组异常%Duane's retraction syndrome and karyotypic abnormalities

    Institute of Scientific and Technical Information of China (English)

    Alireza K-Jafari; Seyed-Masoud Hoshmand; Iraj Ahadzadeghan; Faramarz Anvari; Abroad Ameri; Mohammad-Reza Akbari; Mohammad Taher Rajabi

    2008-01-01

    AIM:TO evaluate chromosome 8 abnormalities in Duane's retraction syndrome(DRS)type 1.METHODS:We evaluated chromosome 8 abnormalities in 29 consecutive cases of DRS type Ⅰ.DNA was isolated from the peripheral leukocytes of patients using a genomic DNA extraction kit,then D8S553 and D8S1797 markers used for polymerase chain reaction(PCR).RESULTS:None of the cases were positive for the two markers D8S553 and D8S1797 on chromosome 8 which were tested in our study.CONCLUSION:The possible cause of this finding is that DRS in our patients is more commonly sporadic rather than familial.We recommend study with more cases,other markers,and different chromosomes.%目的:观察Ⅰ型杜安眼球后退综合征患者的第8染色体.方法:连续观测了29例Ⅰ型杜安眼球后退综合征患者的第8染色体.采用质粒DNA提取试剂盒方法从患者的外周血白细胞里分离提取DNA,选取D8S553和D8S1797做标记,用PCR法进行测定.结果:实验的所有病人样本中没有D8S553和D8S1797标记阳性.结论:我们的发现提示所观察的Ⅰ型杜安眼球后退综合征患者的可能病因是属散发病例而没有家族史,建议纳入更多病例、选取其他的标记和不同的染色体进行进一步的研究.

  14. Congenital heart disease and chromossomopathies detected by the karyotype

    Directory of Open Access Journals (Sweden)

    Patrícia Trevisan

    2014-06-01

    Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

  15. A study on the relationship with 61 rare cases of abnormal chromosome karyotype and clinical diseases%61例国内外首报的染色体异常核型与临床关系研究

    Institute of Scientific and Technical Information of China (English)

    涂向东; 张宝珍; 曾健; 丛学文; 王志红; 周游

    2011-01-01

    目的 了解国内外首报的染色体异常与生育缺陷和小儿智力低下的关系.方法 抽取6784例患有生育缺陷和小儿智力低下患者外周血,进行常规染色体分析,部份患者孕中期抽取羊水、脐带血进行染色体核型分析.结果 发现染色体异常核型714例,其中61例为国内外首次发现的染色体异常核型.通过对61例特殊患者进行临床病例分析,发现29例患者有习惯性流产史,占总数48%,10例患者为无精子或严重少精子症,占总数16%,5例患者为不育症,占总数0.8%,5例患者精子畸形率>30%,占总数0.8%,3例表现为原发性闭经,占总数0.5%,2例生育畸形儿,占总数0.3%,2例智力低下,占总数0.3%,3例胎儿发育畸形,占总数0.5%,2例平衡易位携带者,占总数0.3%.结论 染色体异常是导致生育缺陷和小儿智力低下的遗传因素之一.%Objective: To study the relationship of chromosome aberration to birth defects and infantile mental retardation. Methods: Peripheral blood from 6784 patients with infertility, habitual abortion, dead fetus or abnormal birth and amniotic fluid of the middle stage of pregnancy or cord blood from part of those patients was sampled. Chromosome analysis was performed on cultured lymphocytes. Results: There were 714 cases of abnormal chromosome karyotype including 61 rare cases reported firstly in the world. Further clinical analysis showed 29 cases of spontaneous abortion (48%), 10 cases of oligospermia or azoospermia ( 16% ), 5 cases of infertility (0.8% ), 5 cases of teratospermia (0.8% ) , 3 cases of primary amenorrhea (0.5% ) , 2 cases of congenital malformation (0.3% ), 2 cases of mental retardation (0.3% ), 3 cases of fetal development malformation (0.5% ) and 2 carrier of chromosomal balanced translocation (0.3% ). Conclusion: Chromosomal abnormality is one of the genetic factors leading to birth defects and infantile mental retardation.

  16. Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester%孕中期羊水细胞染色体核型分析及其异常核型发生率的比较

    Institute of Scientific and Technical Information of China (English)

    张月萍; 伍俊萍; 李笑天; 雷彩霞; 徐建忠; 殷民

    2011-01-01

    ,占全部异常核型的35.6%( 138/388),其次为常染色体平衡性结构重排为20.6% (80/388)、嵌合体为12.4% (48/388)、18三体为11.3% (44/388),其他较常见的异常核型包括常染色体非平衡性结构重排和45,X0,各为4.1%(16/388),47,XXY为3.9%(15/388)。(3)父母淋巴细胞核型分析:153个胎儿进行了其父母淋巴细胞的核型分析,并最终确定了胎儿异常核型来源:家族性异常58个,新发生的异常95个。78个胎儿的荧光原位杂交技术诊断结果与G显带核型全部一致,其中2个为21三体。结论不同检查指征孕妇的胎儿异常核型的构成不同;孕中期胎儿异常核型种类繁多,致畸风险与异常核型种类有关。%Objective To investigate the karyotypes of amiotic fluid cells and compare the incidence of chromosomal abnormality as well as to evaluate the clinical significance of abnormal karyotypes. Methods A total of 13 648 pregnant women came to Shanghai Jiai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fuclan University to do amniocentesis from September 1998 to November 2010, and 13 795 amniotic fluid specimens were successfully extracted and cultured, thus 13 795 fetuses received karyotype diagnosis. These fetuses were grouped according to different indications. If maternal age was ≥ 35, the fetuses were grouped into the advanced maternal age group (4065) ; and if maternal serum screening test revealed high-risk of trisomy 18 or trisomy 21, the fetuses were grouped into the high-risk serum screening group (6462) ; and those with abnormal signs of ultrasound screening were grouped into the abnormal ultrasound signs group (1539); and if either of the parents was with chromosome abnormalities, the fetus was grouped into the paternal/maternal abnormality group ( 108 ) ; whereas the remainder were grouped in other factors group ( 1621 ). The amniotic fluid cells were in-situ cultured on coverslips, harvested by conventional G-banded methods

  17. Pregnancy complicated by triploidy: a comparison of the three karyotypes.

    Science.gov (United States)

    McWeeney, Dennis T; Munné, Santiago; Miller, Richard C; Cekleniak, Natalie A; Contag, Stephen A; Wax, Joseph R; Polzin, William J; Watson, William J

    2009-10-01

    We evaluated triploid pregnancy to determine whether there are clinically important differences between the three karyotypes: 69,XXX, 69,XXY, and 69,XYY. Prospectively maintained cytogenetic databases at five tertiary care centers were retrospectively reviewed over a 10-year period to identify all triploid pregnancies. Targeted ultrasounds were reviewed to identify fetal and placental findings. Sonographic findings were compared by karyotype. There was a total of 549 triploid gestations; preimplantation genetic diagnosis (PGD) detected 413 triploid embryos, and the cytogenetic databases provided 136 clinical pregnancies with triploidy. In triploid embryos with PGD, the frequency of the 69,XYY karyotype was 8.7% (36/413), compared with 0.74% (1/136) during the first trimester of clinical pregnancies (p = 0.002). In clinical pregnancies, 60% (36/60) of 69,XXY fetuses survived the first trimester of development compared with 69% (52/75) of 69,XXX fetuses (p = NS). No clinically important differences were observed between 69,XXX and 69,XXY karyotypes in terms of type, number, or severity of fetal or placental anomalies. Gestations with a 69,XYY karyotype are found less frequently compared with gestations with a 69,XXX or 69,XXY karyotype. The decline in fetal survival of the 69,XYY triploid karyotype needs further investigation. There are significant abnormalities detected during prenatal sonography in most all clinically recognized cases of triploidy. Sonography cannot reliably distinguish between the 69,XXY and 69,XXX karyotypes.

  18. The Application of Spectral Karyotyping in Leukemia

    Institute of Scientific and Technical Information of China (English)

    Bo Guo; Wanming Da; Xiaoping Han

    2006-01-01

    Spectral karyotyping (SKY) is a novel cytogenetic technique, which has been developed to unambiguously display and identify all 24 human chromosomes at one time without previous knowledge of any abnormalities involved. SKY can discern aberrations that fail to be easily detected by conventional banding techniques and by fluorescent in situ hybridization (FISH). Therefore SKY is highly accurate, highly sensitive, and highly prognostic. In this report the featurese and application of SKY in studies of leukemia are reviewed.

  19. Cardiac abnormalities in the acquired immunodeficiency syndrome. A prospective study with a clinical-pathological correlation in twenty-one adult patients

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    Herdy Gesmar Volga Haddad

    1999-01-01

    Full Text Available OBJECTIVE - To evaluate the cardiac abnormalities and their evolution during the course of the acquired immunodeficiency syndrome, as well as to correlate clinical and pathological data. METHODS - Twenty-one patients, admitted to the hospital with the diagnosis of acquired immunodeficiency syndrome, were prospectively studied and followed until their death. Age ranged from 19 to 42 years (17 males. ECG and echocardiogram were also obtained every six months. After death, macro- and microscopic examinations were also performed. RESULTS - The most frequent causes of referral to the hospital were: diarrhea or repeated pneumonias, tuberculosis, toxoplasmosis or Kaposi sarcoma. The most frequent findings were acute or chronic pericarditis (42% and dilated cardiomyopathy (19%. Four patients died of cardiac problems: infective endocarditis, pericarditis with pericardial effusion, bacterial myocarditis and infection by Toxoplasma gondii. CONCLUSION - Severe cardiac abnormalities were the cause of death in some patients. In the majority of the patients, a good correlation existed between clinical and anatomical-pathological data. Cardiac evaluation was important to detect early manifestations and treat them accordingly, even in asymptomatic patients.

  20. 广西地区15413例产前诊断中异常核型的分析性研究%Abnormal Karyotypes in 15 413 Cases with Prenatal Diagnosis in Guangxi Province, China:a Retrospective Study

    Institute of Scientific and Technical Information of China (English)

    黄红倩; 李萌; 费冬梅; 刘天盛; 张海燕; 陈秋莉; 欧阳鲁平; 刘孙荣

    2013-01-01

    Objective: To analyze retrospectively the abnormal karyotypes, and the indications of prenatal diagnosis, and to follow-up survey those fetuses with abnormal karyotypes, so as to provide references for genetic counseling. Methods: Chromosomal karyotype analysis was performed in 15 413 cases with the indications of prenatal diagnosis, using fetal samples by amniocentesis or umbilical cord puncture with the informed consent. Total 220 pairs with abnormal karyotype fetuses were surveyed follow-up by phone, and their child were checked chromosomal karyotypes using peripheral blood samples. Results: Total success rate of cell culture was 99.6%(15 349/15 413), including 99.76%(11 299/11 326) in amniotic fluid samples and 99.1%(4 050/4 087) in umbilical cord blood samples. The rate of chromosomal abnormalities was 11.20%(1 719/15 349), including 8.70% (1 335/15 349) normal polymorphism, 1.72% (264/15 349) abnormal number of chromosomes and 0.79% (121/15 349) structural abnormalities of chromosomes. Classified according to the indications of prenatal diagnosis, the rates of chromosomal abnormalities were as follows, 10.67% (879/8 236) Down′s syndrome, 9.76% (128/1 312) elderly pregnant women, 12.27%(138/1 125) history of adverse pregnancy, 11.40%(124/1 087) abnormality found by B-ultrasound, 23.91%(132/552) abortion due to fetal malformation. In those chromosomal abnormalities, 108 abnormal karyotypes were from mothers, 69 from fathers, 43 from spontaneous abnormalities. Conclusions: The prenatal diagnosis and chromosomal analysis in those high-risk pregnant women are helpful to reduce birth defects.%目的:分析产前诊断中异常核型与指征的关系及异常核型胎儿的调查随访,为遗传咨询提供可靠的依据。方法:对15413例具有产前诊断指征的妊娠妇女在知情同意的情况下,经B型超声引导行羊膜腔穿刺或脐带血穿刺,经培养处理后进行染色体核型分析。有220对胎儿核型异常的父母在知

  1. 单核苷酸多态性芯片与染色体核型分析在唐氏筛查高风险孕妇产前诊断中的比较研究%Comparison between single nucleotide polymorphism array and karyoty-ping in prenatal diagnosis in Down’ s screening abnormal pregnancy

    Institute of Scientific and Technical Information of China (English)

    白小艺; 章钧; 田琪; 林俊伟; 侯红瑛

    2015-01-01

    [ ABSTRACT] AIM:To evaluate the clinical application of single nucleotide polymorphism array ( SNP array) in prenatal diagnosis for screening the abnormality of women with Down’ s syndrome ( DS) .METHODS:The amniotic fluid samples ( n=312) collected by amniocentesis for the DS screening abnormality women were tested by karyotyping and SNP array analysis, respectively.The findings of karyotyping and SNP array analysis were compared.RESULTS:Two cases of trisomy 21 were identified by karyotyping and SNP array analysis, but SNP array analysis failed to identify 6 cases of chro-mosome balanced structural rearrangement.SNP detected 176 cases copy number variants ( CNVs) in 303 cases normal karyotype were detected by SNP, including 106 benign CNVs, 61 variants of unknown significance (VOUS), 9 de novo CNVs, and none of them was pathogenic.The distribution difference of CNVs in DS screening positive group and DS screening positive plus advanced maternal age group was not statistically significant ( P>0.05) .Furthermore, we reported 14 kinds of CNVs for the first time in population.CONCLUSION:SNP array can further assure chromosome microdupli-cation/microdeletion.In normal karyotype fetus of prenatal diagnosis, SNP can detect some clinical significant CNVs.%目的:探讨单核苷酸多态性芯片( SNP array)在唐氏筛查高风险孕妇胎儿染色体分析中的应用价值。方法:选取312例因唐氏筛查高风险的孕妇,行羊膜腔穿刺术后获得羊水,对羊水进行G显带核型分析和SNP array检测,比较核型分析与SNP array检测结果,并按年龄分组比较拷贝数变异( CNVs)的发生率差别。结果:核型分析和SNP array均准确发现2例21三体(0.64%),6例核型分析提示染色体平衡重组(1.92%)的样本经SNP array分析证实不存在重排片段重复或缺失。在303例核型正常的胎儿羊水细胞中, SNP array检测发现176例CNVs,其中良性CNVs 106例,

  2. Karyotyping analysis of 396 newborns with congenital malformations and chromosomal abnormalities and the associated phenotypes%新生儿先天畸形396例染色体异常核型及其表型临床特征分析

    Institute of Scientific and Technical Information of China (English)

    王红英; 李海波; 何亚香; 杨乃超; 邵雪君; 薛永权

    2014-01-01

    目的 研究新生儿畸形的主要染色体核型及其临床表型.方法 对2006年1月至2012年5月在苏州大学附属儿童医院就诊的396例先天畸形新生儿按常规方法制备外周血淋巴细胞染色体,G显带并进行核型分析;对各型核型异常患儿的临床表型进行统计分析.结果 1.新生儿396例中检出外周血染色体异常核型159例,异常率为40.2%,其中国内外首次报道3例.2.异常核型中以21-三体(唐氏综合征)最为常见,共130例,占81.8%,其中119例为标准型,10例合并涉及D组或G组的罗伯逊易位,1例伴有性染色体异常.3.其他常见异常核型依次为del(5) (p12-14)4例、18-三体4例、45,XO 4例、inv(9) (p11q12-21)4例、X-三体1例、Rob(13;14)1例、8-三体1例、del(18) (q22)1例等.4.染色体病的临床表型有特殊面容147例(92.5%)、先天性心脏病97例(61.0%)、低出生体质量72例(45.3%)、先天性肛门闭锁13例(8.1%)、多发性畸形11例(6.8%)、肠畸形10例(6.2%)、外生殖器异常9例(5.7%)、猫叫样哭声4例(2.5%)、四肢水肿4例(2.5%)、指趾异常6例(3.6%)、先天性脑发育不良6例(3.6%)、颈蹼5例(3.1%)和唇腭裂3例(1.8%)等.结论 染色体核型异常是导致新生儿先天性疾病的重要因素;特殊面容、先天性心脏病、低出生体质量、多发性畸形是新生儿染色体病的主要临床体征.%Objective To reveal the chromosome abnormalities and their relationship with the clinical phenotype of neonates with congenital malformation.Methods Karyotype analysis of peripheral blood lymphocytes was performed on 396 newborns with congenital malformation,who were recruited at the Children's Hospital Affiliated to Soochow University from Jan.2006 to May 2012,chromosome karyotypes were prepared with neonatal peripheral lymphocytes by conventional G-banding technique.Results 1.Of 396 newborns,159 (40.2%) cases were detected to have chromosomal abnormalities

  3. Karyotype Learning Center: A Software For Teaching And Learning Cytogenetics

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    Joelma Freire De Mesquita

    2004-05-01

    Full Text Available The in vitro cultivation of human cells is an essential part of the work of every diagnostic cytoge-netics laboratory. Almost all human cytogenetic studies involve the examination of dividing bloodcell population by blocking cell division at metaphase with subsequent processing and staining bybanding techniques. The chromosome constitution is described as Karyotype that states the totalnumber of chromosomes and the sex chromosome constitution. Karyotypes are prepared by cuttingup a photograph of the spread metaphase chromosomes, matching up homologous chromosomes andsticking them back down on a card or nowadays more often by getting an image analysis computerto do the job. Chromosomes are identied by their size, centromere position and banding pattern.Teaching a student how to detect and interpret even the most common chromosome abnormaliti-es is a major challenge: mainly, in a developing country where the laboratorial facilities are notalways available for a big number of students. Therefore, in this work we present an educationalsoftware for teaching undergraduate students of Medical and Life Sciences Courses how to arrangenormal and abnormal chromosomes in the form of karyotype. The user, using drag-and-drop, is da-red to match up homologous chromosome. For that, we have developed a free full access web site(http://www.biomol.net/cariotipo/ for hosting the software. The latter has proved to be light andfast even under slow dial-up connections. This web site also oers a theoretical introductory sectionwith basic concepts about karyotype. Up to now the software has been successfully applied to un-dergraduate courses at the University of Rio de Janeiro (UNIRIO. The students have approved thesoftware; to them the similarities with the well-known game solitaire turns the exercise more excitingand provides additional stimulus to learn and understand karyotype. Professors have also used thesoftware as complementary material in their regular classes

  4. 荧光原位杂交技术在自然流产绒毛染色体核型检测中的应用%Application of fluorescence in situ hybridization on detection of abnormal karyotypes from spontaneous abortion specimens

    Institute of Scientific and Technical Information of China (English)

    刘丛丛; 刘俊涛; 宋亦军; 郝娜; 周京

    2012-01-01

    Objective To investigate the effect of fluorescence in situ hybridization (FISH) in increasing the accuracy and detection rate of chromosome aneuploid from spontaneous abortion specimens.Methods Chromosome 13,21,16 and 22 single sequence probes and centromere probes of 18,X and Y chromosome probes were used to detect 100 cases of spontaneous abortion villi samples.The results were compared with conventional karyotype analysis.Results (1) Karyotype analysis:Among 89 successfully cultured villi samples,51 abnormal karyotypes (57.3%) were found,including 37 cases of autosomal aneuploidies,four sex chromosome aneuploidies,two triploids,one tetraploid,one 68,XX and six chromosome structural aberrations.(2) FISH:The detection rate of abnormal karyotype was 38.0% (38/100),among which 25 cases were autosomal aneuploidies,five sex chromosome aneuploidies,three triploids,four XX chimeras and one triploid in chromosome 13,16,18 and 21.(3) Comparison of the two methods:Among the 11 samples which failed by conventional method,FISH found two abnormal samples.In specimens of 46,XY,three cases showed mosaicism by FISH.In specimens of 46,XX,two cases showed chromosomal abnormalities by FISH.FISH detected overall 65.5% (38/58) of the chromosomal abnormalities.Conclusions FISH combined with conventional chromosome analysis could improve the accuracy and detection rate of abnormal karyotypes in spontaneous abortion specimens.%目的 探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在提高自然流产绒毛染色体核型分析准确性和异常核型检出率中的作用.方法 采用18、X、Y染色体着丝粒探针和13、21及16、22染色体单一序列探针,对100例自然流产绒毛标本同时进行FISH检测和常规染色体核型分析,比较并分析2种方法的一致性及差异.结果 (1)染色体核型分析:100例流产绒毛标本培养成功率为89.0%(89/100).检出异常核型51例,异常核型检出率为57.3%(51/89),

  5. Clinical utility of skin karyotype

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    Luiza E. Dorfman

    2015-08-01

    Full Text Available ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype examination in cases when it is no longer possible to obtain a blood sample, thus providing the correct diagnosis and genetic counseling for the family.

  6. Karyotypic analysis of intersexuality in Chinese from Taiyuan

    Institute of Scientific and Technical Information of China (English)

    Zhen-GuoMI; Xiao-FengYANG; TaoLAN

    2000-01-01

    Aim: To analyze the kayrotypic patterns of 33 cases of intersexuality in Chinese from Talyuan, China in order to further clarify its mechanism of development and the interrelationship between karyotype and phenotypic sex. Methods: High-resolution GTG-banding chromosome technique was used to analyze the karyotype patterns. Results: In these patients, 57.58% were male pseudohermaphrodites (46,XY), 18.18%, female pseudohermaphrodites (46, XX), 12.12%, true hemaphrodites, and 12.12%, other karyotypes. Although testes can be seen in 88.8% of karyotypes with Y chromosome, 73.68% of the patients were of female social sex. In 42.82% of patients the social sex is in conformity with their karyotypes. There were 2 cases of male pseudohermaphrodites, where the sex chromosome was normal, but abnormalities were found in chromosomes 9, 13, or 14. Conclusion: Sex chromosomes determine the direction of gonadal and sex differentiation, while the development of the normal gonad and external genitalia should have the participation of many autosomal chromosomes as well.

  7. KARYOTYPE STUDY IN PATIENTS WITH HEARING DISABILITY

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    Rajput H B

    2012-02-01

    Full Text Available Background: Hearing disability is the most common sensory disorder in humans. About 50% cases of congenital hearing loss are due to genetic causes. About 70% of genetic hearing loss is nonsyndromic and 30% is syndromic. Syndromic hearing loss is found as about 500 syndromes associated with chromosomal abnormalities. Genetic study of hearing loss include numerical chromosomal aberrations like trisomy 13, 18, 21 and structural chromosomal aberrations like deletion, translocation or invertion involving chromosome numbers 1, 2, 3, 5, 6, 7, 8,10,11, 12, 13, 15, 18, 21 and many more . Materials & Method: The aim of this study was to carry out a cytogenetic profile of 25 clinically diagnosed patients of hearing loss from school of deaf & dumb and from ENT clinics, Ahmedabad to find out the chromosomal abnormalities in these patients. Karyotypes of all the patients were prepared from peripheral venous blood & photographed at genetic laboratory at B.J.Medical College, Ahmedabad. Observations: Clinical & karyotype analysis revealed that out of 25 patients, 8 cases had positive family history of hearing loss. Positive history of consanguineous marriage was found in 6 patients. It was observed that 17(68% cases had isolated(non-syndromic hearing loss and 8(32% cases had syndromic deafness. Among 17(68% non-syndromic patients 13(52% cases showed normal chromosomal constitution and in 4(16% cases metaphase was not found and out of 8(32% patients with syndromic deafness, one female (4% & two males (8% had trisomy 21, one female (4% had monosomy of X chromosome and 4(16% cases showed normal chromosomal constitution. Conclusion: Cytogenetic pattern of hearing loss is variable among different studies.So, cytogenetic analysis of suspected hearing loss is of value to objectively confirm the diagnosis and to provide a basis for genetic counselling. [National J of Med Res 2012; 2(1.000: 89-92

  8. Esthesioneuroblastoma in a boy with 47, XYY karyotype

    Science.gov (United States)

    Jo, Hee Cheol; Lee, Seong Wook; Jung, Hyun Joo

    2016-01-01

    Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior. PMID:28018456

  9. Evolutionary dynamics of mammalian karyotypes

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    Carlo Alberto Redi

    2012-12-01

    Full Text Available This special volume of Cytogenetic and Genome Research (edited by Roscoe Stanyon, University of Florence and Alexander Graphodatsky, Siberian division of the Russian Academy of Sciences is dedicated to the fascinating long search of the forces behind the evolutionary dynamics of mammalian karyotypes, revealed after the hypotonic miracle of the 1950s....

  10. SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis.

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    Giuseppe Visani

    Full Text Available The molecular pathogenesis of primary mielofibrosis (PMF is still largely unknown. Recently, single-nucleotide polymorphism arrays (SNP-A allowed for genome-wide profiling of copy-number alterations and acquired uniparental disomy (aUPD at high-resolution. In this study we analyzed 20 PMF patients using the Genome-Wide Human SNP Array 6.0 in order to identify novel recurrent genomic abnormalities. We observed a complex karyotype in all cases, detecting all the previously reported lesions (del(5q, del(20q, del(13q, +8, aUPD at 9p24 and abnormalities on chromosome 1. In addition, we identified several novel cryptic lesions. In particular, we found a recurrent alteration involving cytoband 20p13 in 55% of patients. We defined a minimal affected region (MAR, an amplification of 9,911 base-pair (bp overlapping the SIRPB1 gene locus. Noteworthy, by extending the analysis to the adjacent areas, the cytoband was overall affected in 95% of cases. Remarkably, these results were confirmed by real-time PCR and validated in silico in a large independent series of myeloproliferative diseases. Finally, by immunohistochemistry we found that SIRPB1 was over-expressed in the bone marrow of PMF patients carrying 20p13 amplification. In conclusion, we identified a novel highly recurrent genomic lesion in PMF patients, which definitely warrant further functional and clinical characterization.

  11. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis.

    Science.gov (United States)

    Xiao, H; Yang, Y L; Zhang, C Y; Liao, E J; Zhao, H R; Liao, S X

    2016-01-01

    We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.

  12. Abnormalities of gonadal differentiation.

    Science.gov (United States)

    Berkovitz, G D; Seeherunvong, T

    1998-04-01

    Gonadal differentiation involves a complex interplay of developmental pathways. The sex determining region Y (SRY) gene plays a key role in testis determination, but its interaction with other genes is less well understood. Abnormalities of gonadal differentiation result in a range of clinical problems. 46,XY complete gonadal dysgenesis is defined by an absence of testis determination. Subjects have female external genitalia and come to clinical attention because of delayed puberty. Individuals with 46,XY partial gonadal dysgenesis usually present in the newborn period for the valuation of ambiguous genitalia. Gonadal histology always shows an abnormality of seminiferous tubule formation. A diagnosis of 46,XY true hermaphroditism is made if the gonads contain well-formed testicular and ovarian elements. Despite the pivotal role of the SRY gene in testis development, mutations of SRY are unusual in subjects with a 46,XY karyotype and abnormal gonadal development. 46,XX maleness is defined by testis determination in an individual with a 46,XX karyotype. Most affected individuals have a phenotype similar to that of Klinefelter syndrome. In contrast, subjects with 46,XX true hermaphroditism usually present with ambiguous genitalia. The majority of subjects with 46,XX maleness have Y sequences including SRY in genomic DNA. However, only rare subjects with 46,XX true hermaphroditism have translocated sequences encoding SRY. Mosaicism and chimaerism involving the Y chromosome can also be associated with abnormal gonadal development. However, the vast majority of subjects with 45,X/46,XY mosaicism have normal testes and normal male external genitalia.

  13. Phenotypes and karyotypes of human malignant mesothelioma cell lines.

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    Vandana Relan

    Full Text Available BACKGROUND: Malignant mesothelioma is an aggressive tumour of serosal surfaces most commonly pleura. Characterised cell lines represent a valuable tool to study the biology of mesothelioma. The aim of this study was to develop and biologically characterise six malignant mesothelioma cell lines to evaluate their potential as models of human malignant mesothelioma. METHODS: Five lines were initiated from pleural biopsies, and one from pleural effusion of patients with histologically proven malignant mesothelioma. Mesothelial origin was assessed by standard morphology, Transmission Electron Microscopy (TEM and immunocytochemistry. Growth characteristics were assayed using population doubling times. Spectral karyotyping was performed to assess chromosomal abnormalities. Authentication of donor specific derivation was undertaken by DNA fingerprinting using a panel of SNPs. RESULTS: Most of cell lines exhibited spindle cell shape, with some retaining stellate shapes. At passage 2 to 6 all lines stained positively for calretinin and cytokeratin 19, and demonstrated capacity for anchorage-independent growth. At passage 4 to 16, doubling times ranged from 30-72 hours, and on spectral karyotyping all lines exhibited numerical chromosomal abnormalities ranging from 41 to 113. Monosomy of chromosomes 8, 14, 22 or 17 was observed in three lines. One line displayed four different karyotypes at passage 8, but only one karyotype at passage 42, and another displayed polyploidy at passage 40 which was not present at early passages. At passages 5-17, TEM showed characteristic features of mesothelioma ultrastructure in all lines including microvilli and tight intercellular junctions. CONCLUSION: These six cell lines exhibit varying cell morphology, a range of doubling times, and show diverse passage-dependent structural chromosomal changes observed in malignant tumours. However they retain characteristic immunocytochemical protein expression profiles of

  14. Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

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    Kooper Angelique JA

    2012-01-01

    Full Text Available Abstract As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8% chorionic villus (CV and 46 (9.2% amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC and long-term culture (LTC cells. Overall, 19 (3.8% abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13, two with a sex chromosomal aneuploidy (Klinefelter syndrome, one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8% abnormal cases, including 12 cases (2.4% with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR.

  15. Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly.

    Science.gov (United States)

    Gezer, C; Ekin, A; Ozeren, M; Taner, C E; Ozer, O; Koc, A; Bilgin, M; Gezer, N S

    2014-07-01

    Ventriculomegaly (VM) is a marker of aneuploidy and warrants a detailed examination of fetal anatomy. Chromosomal abnormalities worsen the fetal and neonatal prognosis significantly and karyotyping of fetuses is critically important when accompanying anomalies are detected. Here, we report the genetic results of 140 fetuses with isolated and non-isolated VM detected during a second trimester ultrasound examination followed by invasive in utero diagnostic procedures for karyotyping. VM was diagnosed in seven (5%) fetuses with abnormal karyotype and the chromosomal abnormality incidence was higher in severe VM (6.8%) than mild (4.2%). Higher chromosomal abnormality rates were detected when VM was isolated (8.6%), rather than associated with any anomaly (3.8%). These results suggest that karyotype analysis should be offered to all patients with any degree of VM, regardless of its association with structural anomalies.

  16. Human glioblastoma cells persistently infected with simian virus 40 carry nondefective episomal viral DNA and acquire the transformed phenotype and numerous chromosomal abnormalities.

    Science.gov (United States)

    Norkin, L C; Steinberg, V I; Kosz-Vnenchak, M

    1985-02-01

    A stable, persistent infection of A172 human glioblastoma cells with simian virus 40 (SV40) was readily established after infection at an input of 450 PFU per cell. Only 11% of the cells were initially susceptible to SV40, as shown by indirect immunofluorescent staining for the SV40 T antigen at 48 h. However, all cells produced T antigen by week 11. In contrast, viral capsid proteins were made in only about 1% of the cells in the established carrier system. Weekly viral yields ranged between 10(4) and 10(6) PFU/ml. Most of the capsid protein-producing cells contained enormous aberrant (lobulated or multiple) nuclei. Persistent viral DNA appeared in an episomal or "free" state exclusively in Southern blots and was indistinguishable from standard SV40 DNA by restriction analysis. Viral autointerference activity was not detected, and yield reduction assays did not indicate defective interfering particle activity, further implying that variant viruses were not a factor in this carrier system. Interferon was also not a factor in the system, as shown by direct challenge with vesicular stomatitis virus. Persistent infection resulted in cellular growth changes (enhanced saturation density and plating efficiency) characteristic of SV40 transformation. Persistent infection also led to an increased frequency of cytogenetic effects. These included sister chromatid exchanges, a variety of chromosomal abnormalities (ring chromosomes, acentric fragments, breaks, and gaps), and an increase in the chromosome number. Nevertheless, the persistently infected cells continued to display a bipolar glial cell-like morphology with extensive process extension and intercellular contacts.

  17. Karyotypic findings in chronic myeloid leukemia cases undergoing treatment

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    Anupam Kaur

    2012-01-01

    Full Text Available Background: Chronic myeloid leukemia (CML is a clonal myeloproliferative expansion of primitive hematopoietic progenitor cells. Materials and Methods: In the present study, CML samples were collected from various hospitals in Amritsar, Jalandhar and Ludhiana. Results: Chromosomal alterations seen in peripheral blood lymphocytes of these treated and untreated cases of CML were satellite associations, double minutes, random loss, gain of C group chromosomes and presence of marker chromosome. No aberrations were observed in control samples. Karyotypic abnormalities have also been noted in the Ph-negative cells of some patients in disease remission. Conclusion: This is a novel phenomenon whose prognostic implications require thorough and systematic evaluation.

  18. Karyotyping

    Science.gov (United States)

    ... growing baby (placenta) To test amniotic fluid, an amniocentesis is done. A bone marrow biopsy is needed ... the sample procedure is having blood drawn ( venipuncture ), amniocentesis, or bone marrow biopsy.

  19. Guidelines for molecular karyotyping in constitutional genetic diagnosis.

    NARCIS (Netherlands)

    Vermeesch, J.R.; Fiegler, H.; Leeuw, N. de; Szuhai, K.; Schoumans, J.; Ciccone, R.; Speleman, F.; Rauch, A.; Clayton-Smith, J.; Ravenswaaij-Arts, C.M.A. van; Sanlaville, D.; Patsalis, P.C.; Firth, H.; Devriendt, K.; Zuffardi, O.

    2007-01-01

    Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments have demonstrated that molecular karyotyping outperforms conventional karyotyping with regard to detection of chromosomal imbalances. This ar

  20. Guidelines for molecular karyotyping in constitutional genetic diagnosis

    NARCIS (Netherlands)

    Vermeesch, Joris Robert; Fiegler, Heike; de Leeuw, Nicole; Szuhai, Karoly; Schoumans, Jacqueline; Ciccone, Roberto; Speleman, Frank; Rauch, Anita; Clayton-Smith, Jill; Van Ravenswaaij, Conny; Sanlaville, Damien; Patsalis, Philippos C.; Firth, Helen; Devriendt, Koen; Zuffardi, Orsetta

    2007-01-01

    Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments have demonstrated that molecular karyotyping outperforms conventional karyotyping with regard to detection of chromosomal imbalances. This ar

  1. Karyotype Analysis Activity: A Constructivist Learning Design

    Science.gov (United States)

    Ahmed, Noveera T.

    2015-01-01

    This classroom activity is based on a constructivist learning design and engages students in physically constructing a karyotype of three mock patients. Students then diagnose the chromosomal aneuploidy based on the karyotype, list the symptoms associated with the disorder, and discuss the implications of the diagnosis. This activity is targeted…

  2. A Rare Karyotype of Turner Syndrome: 45.X/47.XXX

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    Ayça Altıncık

    2014-04-01

    Full Text Available Turner syndrome (TS is a chromosomal disorder, which mostly results from a 45.XO karyotype and is characterized with short stature, gonadal dysgenesis, renal and cardiac abnormalities. The probability of spontaneous menarche in TS is 10%, while the probability of fertility is too low. The frequency of 45.X/47,XXX mosaicism in TS has been reported as 1%-4%. Cases with this karyotype were reported to have higher rates of spontaneous menarche and fertility with a lower incidence of short stature and renal abnormalities. A thirteen year-old girl was admitted to our clinic with the complaints of decreased height velocity for the last two years and short stature compared to peers. On physical examination, her height was 135 cm (SD score -3.3 and weight was 32 kg (SD score -2.3 with breast development and pubic hair consistent with Tanner stage III. She also had an increased carrying angle of the elbow and low nuchal hairline. Remaining systemic physical examination was normal. Laboratory evaluation revealed normal complete blood count, renal, hepatic, and thyroid function test results. Bone age was consistent with 11 years. FSH was 5.99 mIU/mL, LH 2.94 mIU/mL, and E2 <20 pg/mL. The result of karyotype analysis was reported to be 45.X/47.XXX. She had no renal abnormality and echocardiogram revealed no pathological finding except minimal mitral valve regurgitation. WISC-R intelligence test was performed due to poor school skills and her IQ score was reported as 68. Recombinant human growth hormone treatment was started and at follow up, she had spontaneous menarche at the age of 13.5 years. With this report, it was aimed to emphasize i the clinical features of this rare 45.X/47.XXX mosaicism and ii the necessity of considering mosaic Turner syndrome in differential diagnosis and determining karyotype in all girls with short stature despite normal pubertal development. (The Jo­ur­nal of Cur­rent Pe­di­at­rics 2014;1:43-7

  3. Electrophoretic karyotype of Cercospora kikuchii.

    Science.gov (United States)

    Hightower, R C; Callahan, T M; Upchurch, R G

    1995-02-01

    Classical genetic analyses are not possible with the phytopathogenic fungus Cercospora kikuchii since no sexual stage has been identified. To facilitate gene mapping and to develop an understanding of the genome organization of C. kikuchii, an electrophoretic karyotype has been obtained using contour-clamped homogeneous electric field gel electrophoresis (CHEF). Eight chromosomes, two of which migrate as a doublet, have been separated into seven bands ranging from 2.0 to 5.5 Mb. Using this determination of chromosome number and size, the total genome size of C. kikuchii is estimated to be 28.4 Mb. In addition, genes encoding tubulin, ribosomal DNA, and four previously isolated light-enhanced cDNAs from C. kikuchii were assigned to chromosomes by Southern-hybridization analysis of CHEF blots.

  4. Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.

    Science.gov (United States)

    Nishiyama, Miyuki; Yan, Jim; Yotsumoto, Junko; Sawai, Hideaki; Sekizawa, Akihiko; Kamei, Yoshimasa; Sago, Haruhiko

    2015-03-01

    To investigate the frequency and type of abnormal karyotype in Japan by amniocentesis before 22 weeks of gestation. We performed a retrospective analysis of 28 983 amniotic fluid specimens in a local population collected before 22 weeks gestations for fetal karyotyping. The incidence of abnormal karyotype was 6.0%. The main indication was advanced maternal age (AMA) of 35 years and older, which represented over half of the clinical indications. Abnormal karyotype was most frequently reported among the referrals for abnormal ultrasound findings (21.8%), followed by positive maternal serum screen results (5.3%). Three-fourths of abnormal karyotype was either autosomal aneuploidy (64.0%) or sex chromosome aneuploidy (11.6%). Abnormal karyotype was detected in 2.8% of pregnant women referred for AMA. Clinically significant abnormal karyotype increased with advancing maternal age. The frequency and type of abnormal karyotype detected by amniocentesis for various indications were determined. Amniocentesis was mainly performed among the referrals for AMA, which is a characteristic distribution of indications of Japan.

  5. Implementation of standardized international karyotype scoring practices is needed to provide uniform and systematic evaluation for patients with myelodysplastic syndrome using IPSS criteria: An International Working Group on MDS Cytogenetics Study.

    Science.gov (United States)

    Chun, Kathy; Hagemeijer, Anne; Iqbal, Anwar; Slovak, Marilyn L

    2010-02-01

    Karyotype status and complexity are key components of the IPSS; however, emerging data suggest the use of cytogenetics at disease presentation is not applied uniformly among MDS patients. To investigate the degree of consistency of scoring karyotypes, the International Working Group on MDS Cytogenetics (IWGMC) conducted a survey of 32 abnormal karyotype challenges carried out in two phases: (a) an initial survey without any specified karyotype counting guidelines and (b) a second survey conducted after the development of IWGMC consensus guidelines for scoring karyotype complexity. Results indicate that IWGMC guidelines were simple and clear for the cytogeneticists in scoring karyotype complexity, but not as clear for the hematologists. We propose an immediate need for standardized international karyotype counting practices and a corresponding IPSS cytogenetic risk that can be incorporated into the cytogenetics reports of all newly diagnosed MDS patients.

  6. Karyotype of cryopreserved bone marrow cells

    Directory of Open Access Journals (Sweden)

    M.L.L.F. Chauffaille

    2003-07-01

    Full Text Available The analysis of chromosomal abnormalities is important for the study of hematological neoplastic disorders since it facilitates classification of the disease. The ability to perform chromosome analysis of cryopreserved malignant marrow or peripheral blast cells is important for retrospective studies. In the present study, we compared the karyotype of fresh bone marrow cells (20 metaphases to that of cells stored with a simplified cryopreservation method, evaluated the effect of the use of granulocyte-macrophage colony-stimulating factor (GM-CSF as an in vitro mitotic index stimulator, and compared the cell viability and chromosome morphology of fresh and cryopreserved cells whenever possible (sufficient metaphases for analysis. Twenty-five bone marrow samples from 24 patients with hematological disorders such as acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndrome, chronic myeloid leukemia, megaloblastic anemia and lymphoma (8, 3, 3, 8, 1, and 1 patients, respectively were selected at diagnosis, at relapse or during routine follow-up and one sample was obtained from a bone marrow donor after informed consent. Average cell viability before and after freezing was 98.8 and 78.5%, respectively (P < 0.05. Cytogenetic analysis was successful in 76% of fresh cell cultures, as opposed to 52% of cryopreserved samples (P < 0.05. GM-CSF had no proliferative effect before or after freezing. The morphological aspects of the chromosomes in fresh and cryopreserved cells were subjectively the same. The present study shows that cytogenetic analysis of cryopreserved bone marrow cells can be a reliable alternative when fresh cell analysis cannot be done, notwithstanding the reduced viability and lower percent of successful analysis that are associated with freezing.

  7. Human ESCs predisposition to karyotypic instability: Is a matter of culture adaptation or differential vulnerability among hESC lines due to inherent properties?

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    Bueno Clara

    2008-10-01

    Full Text Available Abstract Background The use of human embryonic stem cells (hESCs in research is increasing and hESCs hold the promise for many biological, clinical and toxicological studies. Human ESCs are expected to be chromosomally stable since karyotypic changes represent a pitfall for potential future applications. Recently, several studies have analysed the genomic stability of several hESC lines maintained after prolonged in vitro culture but controversial data has been reported. Here, we prompted to compare the chromosomal stability of three hESC lines maintained in the same laboratory using identical culture conditions and passaging methods. Results Molecular cytogenetic analyses performed in three different hESC lines maintained in parallel in identical culture conditions revealed significant differences among them in regard to their chromosomal integrity. In feeders, the HS181, SHEF-1 and SHEF-3 hESC lines were chromosomally stable up to 185 passages using either mechanical or enzymatic dissection methods. Despite the three hESC lines were maintained under identical conditions, each hESC line behaved differently upon being transferred to a feeder-free culture system. The two younger hESC lines, HS181 (71 passages and SHEF-3 (51 passages became chromosomally unstable shortly after being cultured in feeder-free conditions. The HS181 line gained a chromosome 12 by passage 17 and a marker by passage 21, characterized as a gain of chromosome 20 by SKY. Importantly, the mosaicism for trisomy 12 gradually increased up to 89% by passage 30, suggesting that this karyotypic abnormality provides a selective advantage. Similarly, the SHEF-3 line also acquired a trisomy of chromosome 14 as early as passage 10. However, this karyotypic aberration did not confer selective advantage to the genetically abnormal cells within the bulk culture and the level of mosaicism for the trisomy 14 remained overtime between 15%–36%. Strikingly, however, a much older hESC line

  8. Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype.

    Science.gov (United States)

    Hashimoto, H; Maruyama, H; Koshida, R; Okuda, N; Murayama, K; Katsumi, T; Watanabe, K; Sato, T

    1997-03-01

    A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/ 46,X +mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.

  9. Karyotypic characterization of Capsicum sp. accessions

    OpenAIRE

    Willame Rodrigues do Nascimento Souza; Angela Celis de Almeida; Reginaldo de Carvalho; Regina Lúcia Ferreira; Ana Paula Peron

    2015-01-01

    This study aimed to determine the chromosome number and the karyotype of Capsicum annuum, Capsicum chinense, Capsicum frutencens and Capsicum baccatum accessions in the active Capsicum sp. genebank at the Federal University of Piauí (BGC-UFPI). These species have great economic importance throughout the world, and their cytogenetic characterization can inform taxonomy and lead to improvement in the genus. Karyotypes were obtained from the rootlet meristems of the studied accessions using...

  10. Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

    Institute of Scientific and Technical Information of China (English)

    Colombo; Sri Lanka

    2015-01-01

    Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.

  11. Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype.

    Science.gov (United States)

    Cazzaniga, Giovanni; Dell'Oro, Maria Grazia; Mecucci, Cristina; Giarin, Emanuela; Masetti, Riccardo; Rossi, Vincenzo; Locatelli, Franco; Martelli, Massimo F; Basso, Giuseppe; Pession, Andrea; Biondi, Andrea; Falini, Brunangelo

    2005-08-15

    Nucleophosmin (NPM) is a nucleocytoplasmic shuttling protein involved in leukemia-associated chromosomal translocations, and it regulates the alternate reading frame (ARF)-p53 tumor-suppressor pathway. Recently, it has been demonstrated that mutations of the NPM1 gene alter the protein at its C-terminal, causing its cytoplasmic localization. Cytoplasmic NPM was detected in 35% of adult patients with primary non-French-American-British (FAB) classification M3 acute myeloid leukemia (AML), associated mainly with normal karyotype. We evaluated the prevalence of the NPM1 gene mutation in non-M3 childhood AML patients enrolled in the ongoing Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP-AML02) protocol in Italy. NPM1 mutations were found in 7 (6.5%) of 107 successfully analyzed patients. NPM1-mutated patients carried a normal karyotype (7/26, 27.1%) and were older in age. Thus, the NPM1 mutation is a frequent abnormality in AML patients without known genetic marker; the mutation may represent a new target to monitor minimal residual disease in AML and a potential candidate for alternative and targeted treatments.

  12. Inflammatory Cytokines in Maternal Circulation and Placenta of Chromosomally Abnormal First Trimester Miscarriages

    Directory of Open Access Journals (Sweden)

    Jean Calleja-Agius

    2012-01-01

    Full Text Available The impact of abnormal placental karyotype on the inflammatory response within the villous tissue and peripheral circulation of women with miscarriage was evaluated. Villous (=38 and venous blood samples (=26 were obtained from women with missed miscarriage. Tissue chromosome analysis indicated 23 abnormal and 15 normal karyotypes. Concentration of tumour necrosis factor alpha (TNF, TNF-R1 and TNF-R2, and interleukin (IL-10 were measured using flowcytometric bead array in fresh villous homogenate, cultured villous extracts, culture medium, maternal whole blood, and plasma. Plasma TNF/IL-10 ratios were significantly (<0.05 lower in miscarriages with abnormal karyotype. In the abnormal karyotype group, there were significantly higher levels of TNF (<0.01, IL-10 (<0.01, TNF-R1 (<0.001, and TNF-R2 (<0.001 in the villous extracts and culture-conditioned medium compared to normal karyotype group. In miscarriage with abnormal karyotype, there is an exacerbated placental inflammatory response, in contrast to miscarriage of normal karyotype where maternal systemic response is increased.

  13. Acute myeloid leukemia in a patient with constitutional 47,XXY karyotype

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    Marla M. Jalbut

    2015-01-01

    Full Text Available Klinefelter syndrome (KS, a 47,XXY chromosomal abnormality, has been shown to be associated with a number of malignancies, but has not been linked to acute leukemias to date. We present a case of a 54-year-old male diagnosed with acute myeloid leukemia (AML with monocytic differentiation, whose cytogenetic and subsequent FISH analyses revealed a constitutional 47,XXY karyotype. We also review and discuss relevant prior literature.

  14. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

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    Srebniak Malgorzata I

    2012-03-01

    Full Text Available Abstract Background We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS (http://www.Illumina.com analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection. Pre-test genetic counselling was offered in all cases. In 24/207 (11,6% foetuses a clinically relevant genetic abnormality was detected. Only 8/24 abnormalities would have been detected if only routine karyotyping was performed. Submicroscopic abnormalities were found in 16/207 (7,7% cases. The array results were achieved within 1-2 weeks after amniocentesis. Conclusions Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (~0.15 Mb in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (~ > 5 Mb. Since karyotyping would have missed 66% (16/24 of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound abnormalities.

  15. Electrophoretic karyotypes of some related Mucor species.

    Science.gov (United States)

    Nagy, A; Palagyi, Z; Vastag, M; Ferenczy, L; Vágvölgyi, C

    2000-07-01

    Contour clamped homogeneous electric field (CHEF) gel electrophoresis was used to obtain electrophoretic karyotypes from nine Mucor strains representing five different species (M. bainieri, M. circinelloides, M. mucedo, M. plumbeus and M. racemosus). The chromosomal banding patterns revealed high variability among the isolates. The sizes of the DNA in the Mucor chromosomes were estimated to be between 2.5 and 8.7 Mb. The total genome sizes were calculated to be between 30.0 and 44.7 Mb. The applicability of these electrophoretic karyotypes for the investigation of genome structure, for strain identification and for species delimitation is considered.

  16. A new karyotype of Calomys (Rodentia, Sigmodontinae

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    Lima J. Fernando de S.

    2001-01-01

    Full Text Available The genus Calomys Waterhouse, 1837 is widely distributed within South America, being found in Venezuela, Colombia, Peru, Bolivia, Brazil, Paraguay, Uruguay and Argentina. Specimens of Calomys were collected in Formoso do Araguaia, Tocantins, Brazil. For chromosome characterization standard staining techniques and as G-banding and nucleolar organizer region were used. The karyotype was 2n=46 and AN=66. The X chromosome is a medium metacentric and the Y chromosome a small acrocentric chromosome. Chromosome homologies with other species were observed. Probably, karyotype differences were basically due to Robertsonian rearrangements.

  17. 47,XYY karyotype in acute myeloid leukemia.

    Science.gov (United States)

    Palanduz, S; Aktan, M; Ozturk, S; Tutkan, G; Cefle, K; Pekcelen, Y

    1998-10-01

    A case of acute myelomonocytic leukemia (AMMoL; M4) with a 47,XYY karyotype is reported. This chromosome aneuploidy was found in both bone marrow cells and mitogen-stimulated lymphocytes. The contribution of XYY chromosomal constitution in the pathogenesis of AMMoL is controversial.

  18. Acquired blepharoptosis

    NARCIS (Netherlands)

    Oosterhuis, HJGH

    1996-01-01

    A review is given of the aetiology and possible treatment of acquired (non-congenital) blepharoptosis, which is a common but not specific sign of neurological disease: The diagnostic categories of upper eyelid drooping are scheduled as (a) pseudo-ptosis due to a local process or overactivity of eye

  19. Flow karyotyping and sorting of human chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Lucas, J.; Peters, D.; Pinkel, D.; Trask, B.; van den Engh, G.; Van Dilla, M.A.

    1986-07-16

    Flow cytometry and sorting are becoming increasingly useful as tools for chromosome classfication and for the detection of numerical and structural chromosome aberrations. Chromosomes of a single type can be purified with these tools to facilitate gene mapping or production of chromosome specific recombinant DNA libraries. For analysis of chromosomes with flow cytometry, the chromosomes are extracted from mitotic cells, stained with one or more fluorescent dyes and classified one-by-one according to their dye content(s). Thus, the flow approach is fundamentally different than conventional karyotyping where chromosomes are classified within the context of a metaphase spread. Flow sorting allows purification of chromosomes that can be distinguished flow cytometrically. The authors describe the basic principles of flow cytometric chromosome classification i.e. flow karyotyping, and chromosome sorting and describe several applications. 30 refs., 8 figs.

  20. Identification of chromosomal abnormalities relevant to prognosis in chronic lymphocytic leukemia using multiplex ligation-dependent probe amplification.

    NARCIS (Netherlands)

    Stevens-Kroef, M.J.P.L.; Simons, A.; Gorissen, H.; Feuth, A.B.; Weghuis, D.O.; Buijs, A.J.; Raymakers, R.A.P.; Geurts van Kessel, A.H.M.

    2009-01-01

    B-cell chronic lymphocytic leukemia (CLL) is characterized by a highly variable clinical course. Characteristic genomic abnormalities provide clinically important prognostic information. Because karyotyping and fluorescence in situ hybridization (FISH) are laborious techniques, we investigated the d

  1. Noninvasive prenatal molecular karyotyping from maternal plasma.

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    Stephanie C Y Yu

    Full Text Available Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of selected parts of the genome. In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA. This method has been used to analyze the plasma obtained from 6 cases. In three cases, fetal microdeletions have been detected successfully from maternal plasma. In two cases, fetal microduplications have been detected successfully from maternal plasma. In the remaining case, the plasma DNA sequencing result was consistent with the pregnant mother being a carrier of a microduplication. Simulation analyses were performed for determining the number of plasma DNA molecules that would need to be sequenced and aligned for enhancing the diagnostic resolution of noninvasive prenatal karyotyping to 2 Mb and 1 Mb. In conclusion, noninvasive prenatal molecular karyotyping from maternal plasma by massively parallel sequencing is feasible and would enhance the diagnostic spectrum of noninvasive prenatal testing.

  2. Chromosome abnormalities in Indonesian patients with short stature

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    Paramayuda Chrysantine

    2012-08-01

    Full Text Available Abstract Background Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. Methods G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical features who were referred by clinicians all over Indonesia to our laboratory during the year 2003–2009. Results The results of chromosomal analysis of ninety seven patients (mean age: 10.7 years old were collected. The group of patients with other clinical features showed sex chromosome abnormalities in 45% (18/40 and autosomal abnormalities in 10% (4/40, whereas those with short stature only, 42.1% (24/57 had sex chromosome abnormalities and 1.75% (1/57 had autosomal abnormalities. The autosomal chromosomal abnormalities involved mostly subtelomeric regions. Results discrepancies between karyotype and FISH were found in 10 patients, including detection of low-level monosomy X mosaicism in 6 patients with normal karyotype, and detection of mosaic aneuploidy chromosome 18 in 1 patient with 45,XX,rob(13;14(q10;q10. Statistical analysis showed no significant association between the groups and the type of chromosomal abnormalities. Conclusion Chromosome abnormalities account for about 50% of the short stature patients. Wide variations of both sex and autosomal chromosomes abnormalities were detected in the study. Since three out of five patients had autosomal structural abnormalities involving the subtelomeric regions, thus in the future, subtelomeric FISH or even a more sensitive method such as genomic/SNP microarray is needed to confirm deletions of subtelomeric regions of chromosome 9, 11 and 18. Low-level mosaicism in normal karyotype patients indicates interphase FISH need to be routinely carried out in short stature patients as an adjunct to karyotyping.

  3. Acquired Methemoglobinaemia

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    Adil Al-Lawati

    2012-05-01

    Full Text Available Acquired methemoglobinaemia is a relatively rare condition and, therefore infrequently encountered in acute medical practice. Suspicion of the condition may be triggered when the measured PaO2 is ‘out of keeping’ with the oxygen saturations that are discovered with pulse oximetry. We describe two separate cases of acquired methemoglobinaemia secondary to the recreational use of alkyl nitrites (’poppers’. The patients presented at separate times to two different teaching hospitals in London, UK. The similarity of these cases has led the authors to conclude that a raised awareness of this potentially fatal condition, and its association with a widely-available recreational drug, is necessary to ensure a correct and timely diagnosis.

  4. Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion

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    Gao Jinsong

    2012-07-01

    Full Text Available Abstract Background Array-based comparative genomic hybridization (aCGH is a new technique for detecting submicroscopic deletions and duplications, and can overcome many of the limitations associated with classic cytogenetic analysis. However, its clinical use in spontaneous abortion needs comprehensive evaluation. We used aCGH to investigate chromosomal imbalances in 100 spontaneous abortions and compared the results with G-banding karyotyping and fluorescence in situ hybridization (FISH. Inconsistent results were verified by quantitative fluorescence PCR. Results Abnormalities were detected in 61 cases. aCGH achieved the highest detection rate (93.4%, 57/61 compared with traditional karyotyping (77%, 47/61 and FISH analysis (68.9%, 42/61. aCGH identified all chromosome abnormalities reported by traditional karyotyping and interphase FISH analysis, with the exception of four triploids. It also detected three additional aneuploidy cases in 37 specimens with ‘normal’ karyotypes, one mosaicism and 10 abnormalities in 14 specimens that failed to grow in vitro. Conclusions aCGH analysis circumvents many limitations in traditional karyotyping or FISH. The accuracy and efficiency of aCGH in spontaneous abortions highlights its clinical usefulness for the future. As aborted tissues have the potential to be contaminated with maternal cells, the threshold value of detection in aCGH should be lowered to avoid false negatives.

  5. [Will the new molecular karyotyping BACs-on-Beads technique replace the traditional cytogenetic prenatal diagnostics? Preliminary reports].

    Science.gov (United States)

    Piotrowski, Krzysztof; Henkelman, Małgorzata; Zajaczek, Stanisław

    2012-04-01

    Recently several attempts have been made to introduce molecular karyotyping techniques into prenatal diagnosis. These methods can be used not only for the diagnosis of classical aneuploidies, but first of all they should be employed in the diagnostics of microaberrations, which are not revealed by low resolution methods of classical cytogenetics. The new method BACs-on-Beads is designed for quick detection of broad panel of aneuploidies and microdeletions, by the specified detection of deletions and duplications in the examined fetal DNA acquired from amniocytes. Prenatal diagnostics was performed with the use of BACs-on-Beads and classical amniocyte karyotyping simultaneously in a group of 54 pregnancies. This new method proved to be fully compatible with typical karyotyping in cultures of amniocytes in 98.2%. It was confirmed that the main advantage of this method is the possibility of quick diagnosis, within 48 hours, with much wider spectrum of detected anomalies when compared to classical methods. Contrary to other molecular karyotyping methods, the BACs-on-Beads technique is more economical, less time consuming and less complex equipment is needed than in case of other methods. We suppose that this technique can replace classical karyotyping methods in the near future.

  6. Meiotic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  7. 286例男性不育患者细胞遗传学分析%Karyotype Analysis on 286 Cases with Male Infertility

    Institute of Scientific and Technical Information of China (English)

    张美华; 盖凌; 张爱东; 杨丹彤

    2013-01-01

    目的 研究男性不育与染色体核型异常的关系.方法 对286例男性不育患者,抽取外周血进行淋巴细胞培养、G显带、核型分析.结果 检出异常核型69例,异常检出率为24.13%.其中,52例为Klinefelter综合征,占异常核型的75.36%;9例为常染色体结构异常,占异常核型的13.04%;8例为Y染色体异常,占异常核型的11.59%.结论 染色体异常是造成男性不育的重要因素之一,对临床上男性不育患者进行染色体检查非常必要.%Objective To study the relationship between male infertility and the abnormal chromosome karyotype.Methods Blood lymphocyte isolated from 286 cases with male infertility were cultured, G banding stained and analysed.Results 69 cases of abnormal karyotype were detected in 286 cases with male infertility.The rate of anomaly detection was 24.13%.There were 52 cases of Klinefe lter syndrome,accounting for 75.36% in all abnormal karyotypes.And there were 9 cases of chromosome structure abnormality which was 13.04% in chromosome abnormalities.It also included 8 cases of Y chromosome, accounting for 11.59% in all abnormal karyotypes.Conclusion Chromosomal abnormality is the main reason for patients with male infertility.It is necessary to take the karyotype analysis of chromosome in male infertility patients.

  8. Acquired von Willebrand Syndrome

    Institute of Scientific and Technical Information of China (English)

    郭涛

    2005-01-01

    @@ Acquired von Willebrand syndrome (AvWS) is kind of bleeding disorder with laboratory findings similar to those in congenital yon Willebrand disease (vWD).AvWS doesn's have any personal or family history of bleeding, but is associated with certain diseases or abnormal conditions or drugs. Although AvWS is being stated as a rare disease, it has gained more and more attention during the past years. Not because of the severity of the disease, but it is more common than we thought and most patients don' t have a proper diagnosis.

  9. Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Xiong, H.; Yang, X.Y.; Han, J.; Wang, Q.; Zou, Z.L. [Department of Hematology, Shanghai Clinical Research Center, Chinese Academy of Sciences, Shanghai Xuhui District Central Hospital, Shanghai (China)

    2015-01-20

    The purpose of this study was to explore cytokine expression patterns and cytogenetic abnormalities of mesenchymal stem cells (MSCs) from the bone marrow microenvironment of Chinese patients with myelodysplastic syndromes (MDS). Bone marrow samples were obtained from 30 cases of MDS (MDS group) and 30 healthy donors (control group). The expression pattern of cytokines was detected by customized protein array. The karyotypes of MSCs were analyzed using fluorescence in situ hybridization. Compared with the control group, leukemia inhibitory factor, stem cell factor (SCF), stromal cell-derived factor (SDF-1), bone morphogenetic protein 4, hematopoietic stem cell (HSC) stimulating factor, and transforming growth factor-β in the MDS group were significantly downregulated (P<0.05), while interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), and programmed death ligand (B7-H1) were significantly upregulated (P<0.05). For chromosome abnormality analysis, the detection rate of abnormal karyotypes (+8, -8, -20, 20q-, -Y, -7, 5q-) was 30% in the MDS group and 0% in the control group. In conclusion, the up- and downregulated expression of these cytokines might play a key role in the pathogenesis of MDS. Among them, SCF and SDF-1 may play roles in the apoptosis of HSCs in MDS; and IFN-γ, TNF-α, and B7-H1 may be associated with apoptosis of bone marrow cells in MDS. In addition, the abnormal karyotypes might be actively involved in the pathogenesis of MDS. Further studies are required to determine the role of abnormal karyotypes in the occurrence and development of MDS.

  10. Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes

    DEFF Research Database (Denmark)

    Aksglaede, L.; Skakkebaek, N.E.; Juul, A.

    2008-01-01

    CONTEXT: Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles. AIM: The aim of the study was to evaluate the role of abnormal chromosome constitution for longitu...

  11. Acquired Techniques

    DEFF Research Database (Denmark)

    Lunde Nielsen, Espen; Halse, Karianne

    2013-01-01

    Acquired Techniques - a Leap into the Archive, at Aarhus School of Architecture. In collaboration with Karianne Halse, James Martin and Mika K. Friis. Following the footsteps of past travelers this is a journey into tools and techniques of the architectural process. The workshop will focus upon...... architectural production as a conglomerate of various analogue and digital methods, and provide the basics, the tips/tricks - and how the tool themselves becomes operational for spatial/thematic investigations. Eventually, this will become a city, exhibition and phamplet inhabited by the (by...

  12. Is infertility after surgery for cryptorchidism congenital or acquired?

    DEFF Research Database (Denmark)

    Cortes, Dina; Thorup, J M; Visfeldt, J

    1998-01-01

    We evaluated whether deletions of the DAZ (deleted in azoospermia) gene, abnormal karyotypes or hypogonadotropic hypogonadism (HH) were demonstrable in infertile men who had undergone surgery in childhood for cryptorchidism with a simultaneous testicular biopsy that demonstrated no or almost...... no germ cells. In six men with infertility after surgery for cryptorchidism, the adult karyotype and analyses for the DAZ gene, serum follicle-stimulating hormone, luteinizing hormone, and testosterone were performed from a peripheral blood sample. Testicular volume was also measured. All patients...... exhibited a 46,XY karyotype. There were no deletions of the DAZ-gene, no HH and no testicular atrophy. The infertility was thus not proved to be congenital, and consequently, surgical treatment is indicated before the germ cells disappear from undescended testes. This appears to be before 15 months of age....

  13. Chromosome karyotype analysis of 3 901 cases and its clinical significance%3901例外周血染色体分析及临床意义

    Institute of Scientific and Technical Information of China (English)

    王翔; 李旭; 陈葳; 杨文方; 赵明刚

    2012-01-01

    To study the abnormal detection of chromosome and the relationship between abnormal karyotype of chromosome and diseases. Methods A total of 3 901 peripheral blood samples were enrolled. Karyotype was analyzed by chromosome cultivation, G-banding in all cases and C -banding or FISH in some cases if necessary. Results There were 484 cases of abnormal karyotypes with the rate of 12.41% , among which 293 cases were males and 191 cases were females. Among cases of abnormal karyotypes, 179 cases were abnormal karyotypes of euchromosome ( 4. 59% ), 168 were abnormal karyptypes of sex chromosome ( 4. 31% ) and 137 with chromosome polymorphism ( 3.51% ). Eleven cases of balanced chromosomal translocation were identified as the first reported karyotypes in the world by State Key Laboratory of Medical Genetics. A significant association between the kinds of abnormal karyotype and clinical manifestations was found ( r = 0. 013 , P = 0. 000 ). Conclusion It is important and necessary to make chromosomal analysis for patients with abnormal pregnancy history, mental retardation and disorder of sex development.%目的 研究染色体异常检出的情况及其与疾病的关系.方法 对3 901例待检者抽取外周血,采用染色体培养、G显带、C显带,必要时行荧光原位杂交技术进行核心分析.结果 3 901例受检者中共检出染色体异常核型484例,异常检出率为12.41%,异常核型中男性293例,女性191例;异常核型中常染色体异常179例,占受检者的4.59%;性染色体异常168例,占4.31%,多态性137例,占3.51%.平衡易位核型中11例为世界首报.染色体异常检出类型与临床表现有显著性相关(r=0.013,P=0.000).结论 对不良孕产史、智力低下、性分化异常的患者进行染色体核型分析具有重要的临床意义.

  14. Clinical spectrum of neural tube defects with special reference to karyotyping study

    Directory of Open Access Journals (Sweden)

    Vijayendra Kumar

    2012-01-01

    Full Text Available Background: Neural tube defects are common congenital malformations of the central nervous system. Despite years of intensive epidemiological, clinical, and experimental research, the exact etiology of NTD remains rather complex and poorly understood. The present study attempted to look into the association of occurrence of NTD with reference to folic acid levels, along with karyotyping status. Materials and Methods: Detailed history was taken with emphasis on age of the baby and mother, parity, antenatal folic acid intake. Five milliliters of blood was drawn from all the babies and their mothers and divided equally in preheparinized vials (for karyotyping and plain vials (for folic acid estimation. The total duration was 2 years. Results: The total number (n in the study group was 75. The folic acid level was less in affected babies and their mother when compared to matched controls. Chromosomal defect was observed in nine of the 75 patients. Karyotyping defects were higher in children born to mothers of the age group 31-40 years and when their birth order was second. Conclusion: Folic acid supplementation needs to be continued to prevent the occurrence of NTD, and the perinatal identification of NTD should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling.

  15. Analysis of chromosomal karyotypes in 1950 cases of genetic counseling in Zaozhuang%枣庄地区1950例遗传咨询者细胞染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    孙尚军; 甘信辉

    2013-01-01

    Zaozhuang 1950 cases genetic counseling's peripheral blood cell culture, conventional preparation of chromosome and G banding karyotype were analysed. It was found 175 cases abnormalities, abnormalities frequency for 8. 97% (175/1950) , abnormal karyotype involves trisomy, haplotype, Robertsonian translocation, and unbalanced rearrangement. 1125 cases of adverse pregnancy history subjects, detected abnormal karyotype 89 cases, accounting for abnormal karyotype 51% (89/175) , and varying degrees of mental retardation 356 cases, detected abnormal karyotype 54 cases, accounting for abnormal karyotype 31% (54/175), infertility 469 cases, abnormal karyotype 32 cases, accounting for 18% of the abnormal karyotype (32/175). Karyotype analysis for adverse pregnancy history, mental retardation, infertility, disease diagnosis is important, and interrelate to D, G group of the short arm of variation, and the length of the Y chromosome variation, these should cause clinical attention.%本文对枣庄地区1950例遗传咨询者进行外周血细胞培养,常规染色体制备,G显带核型分析,共检出异常核型175例,异常率为8.97% (175/1950),异常核型涉及到三体型、单体型、罗伯逊易位、不平衡重排等.受检者中不良孕产史1125例,检出异常核型89例,占异常核型的51% (89/175);不同程度的智力低下356例,异常核型54例,占异常核型的31% (54/175);不孕不育469例,异常核型32例,占异常核型的18% (32/175).结果表明,染色体核型分析对不良孕产史、智力低下、不孕不育等疾病的诊断具有重要意义,并且与D、G组短臂变异和Y染色体长度变异也有一定的相关性,应引起临床上高度重视.

  16. Hematopoietic Cell Transplantation Outcomes in Monosomal Karyotype Myeloid Malignancies.

    Science.gov (United States)

    Pasquini, Marcelo C; Zhang, Mei-Jie; Medeiros, Bruno C; Armand, Philippe; Hu, Zhen-Huan; Nishihori, Taiga; Aljurf, Mahmoud D; Akpek, Görgün; Cahn, Jean-Yves; Cairo, Mitchell S; Cerny, Jan; Copelan, Edward A; Deol, Abhinav; Freytes, César O; Gale, Robert Peter; Ganguly, Siddhartha; George, Biju; Gupta, Vikas; Hale, Gregory A; Kamble, Rammurti T; Klumpp, Thomas R; Lazarus, Hillard M; Luger, Selina M; Liesveld, Jane L; Litzow, Mark R; Marks, David I; Martino, Rodrigo; Norkin, Maxim; Olsson, Richard F; Oran, Betul; Pawarode, Attaphol; Pulsipher, Michael A; Ramanathan, Muthalagu; Reshef, Ran; Saad, Ayman A; Saber, Wael; Savani, Bipin N; Schouten, Harry C; Ringdén, Olle; Tallman, Martin S; Uy, Geoffrey L; Wood, William A; Wirk, Baldeep; Pérez, Waleska S; Batiwalla, Minoo; Weisdorf, Daniel J

    2016-02-01

    The presence of monosomal karyotype (MK+) in acute myeloid leukemia (AML) is associated with dismal outcomes. We evaluated the impact of MK+ in AML (MK+AML, n = 240) and in myelodysplastic syndrome (MDS) (MK+MDS, n = 221) on hematopoietic cell transplantation outcomes compared with other cytogenetically defined groups (AML, n = 3360; MDS, n = 1373) as reported to the Center for International Blood and Marrow Transplant Research from 1998 to 2011. MK+ AML was associated with higher disease relapse (hazard ratio, 1.98; P < .01), similar transplantation-related mortality (TRM) (hazard ratio, 1.01; P = .90), and worse survival (hazard ratio, 1.67; P < .01) compared with those outcomes for other cytogenetically defined AML. Among patients with MDS, MK+ MDS was associated with higher disease relapse (hazard ratio, 2.39; P < .01), higher TRM (hazard ratio, 1.80; P < .01), and worse survival (HR, 2.02; P < .01). Subset analyses comparing chromosome 7 abnormalities (del7/7q) with or without MK+ demonstrated higher mortality for MK+ disease in for both AML (hazard ratio, 1.72; P < .01) and MDS (hazard ratio, 1.79; P < .01). The strong negative impact of MK+ in myeloid malignancies was observed in all age groups and using either myeloablative or reduced-intensity conditioning regimens. Alternative approaches to mitigate disease relapse in this population are needed.

  17. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

    Directory of Open Access Journals (Sweden)

    Bhola Shama L

    2008-05-01

    Full Text Available Abstract Background In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT has a high accuracy and reliability. However, it is labor intensive, the results take 14–21 days, the costs are high and unwanted findings such as abnormalities with unknown clinical relevance are not uncommon. These disadvantages challenged the practice of karyotyping. Multiplex ligation-dependent probe amplification (MLPA is a new molecular genetic technique in prenatal diagnosis. Previous preclinical evidence suggests equivalence of MLPA and traditional karyotyping (TKT regarding test performance. Methods/Design The proposed study is a multicentre diagnostic substitute study among pregnant women, who choose to have amniocentesis for the indication advanced maternal age and/or increased risk following prenatal screening test. In all subjects, both MLPA and karyotyping will be performed on the amniotic fluid sample. The primary outcome is diagnostic accuracy. Secondary outcomes will be maternal quality of life, women's preferences and costs. Analysis will be intention to treat and per protocol analysis. Quality of life analysis will be carried out within the study population. The study aims to include 4500 women. Discussion The study results are expected to help decide whether MLPA can replace traditional karyotyping for 'low-risk' pregnancies in terms of diagnostic accuracy, quality of life and women's preferences. This will be the first clinical study to report on all relevant aspects of the potential replacement. Trial Registration The protocol is registered in the clinical trial register number ISRCTN47252164

  18. TP53 mutations are early events in chronic lymphocytic leukemia disease progression and precede evolution to complex karyotypes.

    Science.gov (United States)

    Lazarian, Gregory; Tausch, Eugen; Eclache, Virginie; Sebaa, Amel; Bianchi, Vincent; Letestu, Remi; Collon, Jean-Francois; Lefebvre, Valerie; Gardano, Laura; Varin-Blank, Nadine; Soussi, Thierry; Stilgenbauer, Stephen; Cymbalista, Florence; Baran-Marszak, Fanny

    2016-10-15

    TP53 abnormalities lead to resistance to purine analogues and are found in over 40% of patients with refractory chronic lymphocytic leukemia (CLL). At diagnosis, no more than 5% of patients carry the 17p deletion, most cases harbour mutations within the other TP53 allele. The incidence of a TP53 mutation as the only alteration is approximately 5%, but this depends on the sensitivity of the technique. Recently, having a complex karyotype has been considered a strong adverse prognostic factor. However, there are no longitudinal studies simultaneously examining the presence of the 17p deletion, TP53 mutations and karyotype abnormalities. We conducted a retrospective longitudinal study of 31 relapsed/refractory CLL patients. Two to six blood samples per patient were analyzed, with a median follow-up of 8 years. In this report, we assessed the sequence of events of TP53 clonal evolution and correlated the presence of TP53 abnormalities to genetic instability during progression and treatment. Next-generation sequencing allowed the early detection of TP53 mutated clones and was able to be performed on a routine basis, demonstrating an excellent correlation between the Illumina and Ion Torrent technologies. We concluded that TP53 mutations are early events and precede clonal evolution to complex karyotypes. We strongly recommend the early and iterated detection of TP53 mutations in progressive cases.

  19. Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Manpreet Sidhu

    2012-01-01

    Full Text Available Background: Hereditary ectodermal dysplasia is a genetic recessive trait characterized by hypohydrosis, hypotrichosis, and hypodontia. The affected individual show characteristic physiognomy like protruded forehead, depressed nasal bridge, periorbital wrinkling, protruded lips, etc. There is marked decrease in sweat and salivary secretion. Due to skin involvement palm and sole ridge patterns are disrupted. Aim: In this study an attempt has been made to classify the affected members according to the degree of penetrance by pedigree analysis and also study karyotyping for cytogenetics, dermatoglyphic analysis for the various ridge patterns and variations in the number of sweat glands by sweat pore analysis in affected individuals. Materials and Methods: A total of five families who were affected with ectodermal dysplasia were considered. Pedigree analysis was drawn up to three generation by obtaining history. Dermatoglyphics and sweat pore analysis was done by obtaining palm and finger print impression using stamp pad ink. Karyotyping was done by collecting 3-5 ml peripheral blood. Karyotyping was prepared using lymphocyte culture. Chromosomes were examined at 20 spreads selected randomly under Χ100 magnification. Results were analyzed by calculating mean values and percentage was obtained. Results: Karyotyping did not show any abnormalities, dermatoglyphic analysis and sweat pore counts showed marked variations when compared with normal. Moreover, pedigree analysis confirmed the status of the disease as that of the recessive trait. Conclusion: Large number of affected patients needs to be evaluated for dermatoglypic analysis. Genetic aspect of the disease needs to be looked into the molecular level in an attempt to locate the gene locus responsible for ectodermal dysplasia and its manifestation.

  20. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  1. [Y chromosome structural abnormalities and Turner's syndrome].

    Science.gov (United States)

    Ravel, C; Siffroi, J-P

    2009-06-01

    Although specifically male, the human Y chromosome may be observed in female karyotypes, mostly in women with Turner syndrome stigmata. In women with isolated gonadal dysgenesis but otherwise normal stature, the testis determining factor or SRY gene may have been removed from the Y chromosome or may be mutated. In other women with Turner syndrome, the karyotype is usually abnormal and shows a frequent 45,X/46,XY mosaicism. In these cases, the phenotype depends on the ratio between Y positive and 45,X cell lines in the body. When in mosaicism, Y chromosomes are likely to carry structural abnormalities which explain mitotic instability, such as the existence of two centromeres. Dicentric Y isochromosomes for the short arm (idic[Yp]) or ring Y chromosomes (r[Y]) are the most frequent abnormal Y chromosomes found in infertile patients and in Turner syndrome in mosaic with 45,X cells. Although monocentric, deleted Y chromosomes for the long arm and those carrying microdeletions in the AZF region are also instable and are frequently associated with a 45,X cell line. Management of infertile patients carrying such abnormal Y chromosomes must take into account the risk and the consequences of a mosaicism in the offspring.

  2. Chromosomal abnormalities in patients with sperm disorders

    Directory of Open Access Journals (Sweden)

    L. Y. Pylyp

    2013-02-01

    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  3. Exploring Contemporary Issues in Genetics & Society: Karyotyping, Biological Sex, & Gender

    Science.gov (United States)

    Brown, Julie C.

    2013-01-01

    In this two-part activity, high school biology students examine human karyotyping, sex-chromosome-linked disorders, and the relationship between biological sex and gender. Through interactive simulations and a structured discussion lab, students create a human karyotype and diagnose chromosomal disorders in hypothetical patients, as well as…

  4. Parallel Patient Karyotype Information System using Multi-threads

    Directory of Open Access Journals (Sweden)

    Chantana CHANTRAPORNCHAI

    2015-09-01

    Full Text Available Human cytogenetic data are the typical laboratory results from hospitals. Karyogram is used to show the chromosome characteristics. The characteristics are written as karyotype strings. For a particular patient, there may be many records of karyotype strings due to several visits. These data for many patients are increasingly large and must be stored properly for further investigation and analysis. This research introduces the information system for the hospital for keeping the karyotypes of patients and applies the parallel method for searching required karyotypes, extracting related patient information. Particularly, we exploit the technology of Node.js with multithreads while splitting queries to search in parallel. The search method is integrated to the cytogenetic information system which is aimed to use for studying karyotypes of leukemia patients.

  5. Different chromosome Y abnormalities in a case with short stature.

    Science.gov (United States)

    Balkan, Mahmut; Fidanboy, Mehmet; Özbek, M Nuri; Alp, M Nail; Budak, Turgay

    2012-12-01

    We report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the case was carried out on peripheral blood lymphocyte culture. Classic cytogenetic analysis (G and C banding) was confirmed by using fluorescence in situ hybridization analysis (FISH) technique. Cytogenetic and FISH analysis showed a mosaic 46,X,i(Yq)/45,X/47,X,i(Yq)x2/47,XYY karyotype. Case, which was found interesting due to its rarity, is discussed with its clinical features and cytogenetic results, in the light of relevant source information. This case underlines the importance of karyotyping patients with unexplained short stature. This clinical report also will be helpful in defining the phenotypic range associated with these karyotypes.

  6. Leukocyte abnormalities.

    Science.gov (United States)

    Gabig, T G

    1980-07-01

    Certain qualitative abnormalities in neutrophils and blood monocytes are associated with frequent, severe, and recurrent bacterial infections leading to fatal sepsis, while other qualitative defects demonstrated in vitro may have few or no clinical sequelae. These qualitative defects are discussed in terms of the specific functions of locomotion, phagocytosis, degranulation, and bacterial killing.

  7. Meiotic abnormalities in infertile males.

    Science.gov (United States)

    Egozcue, J; Sarrate, Z; Codina-Pascual, M; Egozcue, S; Oliver-Bonet, M; Blanco, J; Navarro, J; Benet, J; Vidal, F

    2005-01-01

    Meiotic anomalies, as reviewed here, are synaptic chromosome abnormalities, limited to germ cells that cannot be detected through the study of the karyotype. Although the importance of synaptic errors has been underestimated for many years, their presence is related to many cases of human male infertility. Synaptic anomalies can be studied by immunostaining of synaptonemal complexes (SCs), but in this case their frequency is probably underestimated due to the phenomenon of synaptic adjustment. They can also be studied in classic meiotic preparations, which, from a clinical point of view, is still the best approach, especially if multiplex fluorescence in situ hybridization is at hand to solve difficult cases. Sperm chromosome FISH studies also provide indirect evidence of their presence. Synaptic anomalies can affect the rate of recombination of all bivalents, produce achiasmate small univalents, partially achiasmate medium-sized or large bivalents, or affect all bivalents in the cell. The frequency is variable, interindividually and intraindividually. The baseline incidence of synaptic anomalies is 6-8%, which may be increased to 17.6% in males with a severe oligozoospermia, and to 27% in normozoospermic males with one or more previous IVF failures. The clinical consequences are the production of abnormal spermatozoa that will produce a higher number of chromosomally abnormal embryos. The indications for a meiotic study in testicular biopsy are provided.

  8. FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling

    Institute of Scientific and Technical Information of China (English)

    Zaida Sarrate; Joan Blanco; Ester Anton; Susana Egozcue; Josep Egozcue; Francesca Vidal

    2005-01-01

    Chromosome abnormalities are one of the major causes of human infertility. In infertile males, abnormal karyotypes are more frequent than in the general population. Furthermore, meiotic disorders affecting the germ cell-line have been observed in men with normal somatic karyotypes consulting for infertility. In both cases, the production of unbalanced spermatozoa has been demonstrated. Basically addressed to establish reproductive risks, fluorescence in situ hybridization (FISH) on decondensed sperm heads has become the most frequently used method to evaluate the chromosomal constitution of spermatozoa in carriers of numerical sex chromosome abnormalities, carriers of structural chromosome reorganizations and infertile males with normal karyotype. The aim of this review is to present updated figures of the information obtained through sperm FISH studies with an emphasis on its clinical significance. Furthermore, the incorporation of novel FISH-based techniques (Multiplex-FISH; Multi-FISH) in male infertility studies is also discussed.

  9. Agnathia-holoprosencephaly associated with a 46,XY,-21,+t(21q;21q) karyotype

    Energy Technology Data Exchange (ETDEWEB)

    Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K. [Univ. of Illinois, Chicago, IL (United States)

    1994-09-01

    We report an unusual case of agnathia-holoprosencephaly associated with Down syndrome due to a 21/21 translocation. The patient presented prenatally at 21 wks gestation. A fetal ultrasound revealed multiple CNS anomalies including hydrocephalus, compressed cerebellum, absent septum pellucidum and possible cranial meningocele or encephalocele. High resolution ultrasound & fetal karyotype were recommended. The patient refused & elected to have a pregnancy termination. Chromosomal analysis performed on products of conception revealed a 46,XY,-21,+t(21q;21q) karyotype. Fluorescence in situ hybridization was performed and confirmed the 21/21 translocation chromosome. An autopsy revealed agnathia and multiple CNS anomalies including absence of the septum pellucidum, absence of the corpus callosum, arhinencephaly, an occiptal meningoencephalocele, dilation of the lateral ventricles, and extensive dysgenesis & heterotopias of the central cerebrum & mid-brain. Additional abnormalities included a persistent left superior vena cava, atrial & ventricular septal defects, irregular length of the fingers with absence of the middle phalanges of the right 2nd and 5th & left 5th digits and bilateral simian creases. Agnathia can be an isolated abnormality but often is associated with holoprosencephaly and/or situs inversus. The majority of familial case of agnathis-holoprosencephaly was caused by an inherited unbalanced translocation resulting in duplication of 6p and monosomy of 18p. Our patient had a translocation form of trisomy 21 but did not have a phenotype consistent with Down syndrome. Trisomy 21 has not been previously reported in other cases of agnathia-holoprosencephaly. Whether the chromosomal abnormality caused the phenotypic abnormalities or if it is a coincidental finding cannot be determined.

  10. The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype.

    Science.gov (United States)

    Aversa, Tommaso; Messina, Maria Francesca; Mazzanti, Laura; Salerno, Mariacarolina; Mussa, Alessandro; Faienza, Maria Felicia; Scarano, Emanuela; De Luca, Filippo; Wasniewska, Malgorzata

    2015-12-01

    Only few studies have investigated to now whether the association with Turner syndrome (TS) may affect the course of Hashimoto's thyroiditis (HT) in children. Aim of this study was to ascertain whether the presentation and long-term course of HT in TS children may be characterized by a peculiar and atypical pattern. The clinical and biochemical findings at HT diagnosis in 90 TS children (group A) were compared with those recorded in 449 girls with HT but without TS (group B); in group A patients, thyroid function tests were re-evaluated after a median time interval of 4.9 years. At HT diagnosis median TSH levels and the rate of cases presenting with a thyroid dysfunction picture were significantly lower in group A, irrespective of karyotype abnormalities. In group A only 34.8 % of the girls who had initially presented with euthyroidism remained euthyroid even at re-evaluation, whilst 67.7 % of those who had presented with subclinical hypothyroidism became overtly hypothyroid over time; also such evolutive pattern was irrespective of karyotype abnormalities. (1) In TS girls, HT presents with a milder hormonal pattern, which often deteriorates over time; (2) these biochemical features are not necessarily linked with a specific karyotype.

  11. Evidence for Karyotype Polymorphism in the Free-Living Flatworm, Macrostomum lignano, a Model Organism for Evolutionary and Developmental Biology

    Science.gov (United States)

    Schlatter, Aline; Konopatskaia, Irina D.

    2016-01-01

    Over the past decade, the free-living flatworm Macrostomum lignano has been successfully used in many areas of biology, including embryology, stem cells, sexual selection, bioadhesion and aging. The increased use of this powerful laboratory model, including the establishment of genomic resources and tools, makes it essential to have a detailed description of the chromosome organization of this species, previously suggested to have a karyotype with 2n = 8 and one pair of large and three pairs of small metacentric chromosomes. We performed cytogenetic analyses for chromosomes of one commonly used inbred line of M. lignano (called DV1) and uncovered unexpected chromosome number variation in the form of aneuploidies of the largest chromosomes. These results prompted us to perform karyotypic studies in individual specimens of this and other lines of M. lignano reared under laboratory conditions, as well as in freshly field-collected specimens from different natural populations. Our analyses revealed a high frequency of aneuploids and in some cases other numerical and structural chromosome abnormalities in laboratory-reared lines of M. lignano, and some cases of aneuploidy were also found in freshly field-collected specimens. Moreover, karyological analyses were performed in specimens of three further species: Macrostomum sp. 8 (a close relative of M. lignano), M. spirale and M. hystrix. Macrostomum sp. 8 showed a karyotype that was similar to that of M. lignano, with tetrasomy for its largest chromosome being the most common karyotype, while the other two species showed a simpler karyotype that is more typical of the genus Macrostomum. These findings suggest that M. lignano and Macrostomum sp. 8 can be used as new models for studying processes of partial genome duplication in genome evolution. PMID:27755577

  12. A CHROMOSOMAL KARYOTYPING STUDY IN MALE WITH PRIMARY INFERTILITY IN A WESTERN WEST BENGAL POPULATION

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    Abhijit

    2016-03-01

    Full Text Available CONTEXT It is interesting that the primary infertility is a major problem in a society like ours where the population is going to be exploded. It is because that infertility severely affects the family or couples psychological harmony, sexual life & social status. Of the many factors responsible for primary male infertility which may be manifested as azoospermia or oligozoospermia, one of the important etiological factors is genetic abnormality affecting the Y chromosome. Among the different parameters known to be responsible for normal spermatogenesis, a small region in the long arm of Y chromosome, containing genes or gene cluster, defined as ‘Azoospermia Factor’ (AZF is definitely maintains the normal spermatogenesis to occur. Any abnormality in that part of the Y chromosome in the form of deletion or deviation of normal gene arrangement produces azoospermia or oligozoospermia and subsequently produces primary male infertility. SETTINGS Bankura Sammilani Medical College and Hospitals, Bankura, West Bengal. DESIGN Simple random sampling method. DURATION OF STUDY November 2013 to march 2015 (One and a half year. METHOD 80 males suffering from primary infertility with azoospermia or oligozoospermia were selected attending the antenatal outpatient department. STATISTICAL ANALYSIS 2.5% patients showed numerical chromosomal abnormality i.e. Klinefelter syndrome (47XXY. Structural abnormalities were detected in 3.75% patients in the form of deletion in the long arm of Y chromosome and ring chromosome. RESULT Out of 80 patients 5 patients showed chromosomal abnormalities in the form of both numerical as Klinefelter syndrome (2 patients & qualitative as deletions (2 patients & ring chromosome (1 patient. CONCLUSION Y chromosomal abnormalities either numerical or structural, is an important factor of male infertility as oligospermia or azoospermia. These abnormalities can be easily detected by simple aids like karyotyping and does not require high

  13. 凝血功能异常对社区获得性肺炎预后的影响%The influence of abnormal clotting to prognosis of community-acquired pneumonia patients

    Institute of Scientific and Technical Information of China (English)

    张棉球

    2015-01-01

    Objective To explore the different severity community acquired pneumonia (CAP) the prognosis of patients with survival situation and the correlation of blood coagulation function. Methods A retrospective analysis of hospital respiratory between September 2011 and December 2011 treated 89 cases of adult patients with CAP as the research object, according to the skills criteria into low-risk group and high-risk groups. There are 47 people in the low-risk group and 42 people in the high-risk group. Comparison of two groups of patients with general information and the platelet count (PLT), prothrombin time (PT), activated part of clotting enzyme live time (APTT), thrombin time (TT), fibrinogen (Fib), and D-dimer (DD) and so on blood coagulation function index, analysis of survival in patients with different prognosis group differences. Results In high risk patients with CAP of PT, TT and the DD values were (16.2± 1.5) s,(16.9±1.9) s,(8.1±7.4) mg/L, and were significantly higher than that of low risk patients(11.5±1.4) s,(9.5± 1.7) s,(1.6±3.2) mg/L, and the differences were statistically significant(P0.05). Conclusion CAP can lead to blood coagulation dysfunction, in patients with blood plasma D-dimer obviously increased with the illness severity, and can be used as a predictor of survival prognosis in patients with CAP.%目的:探讨不同严重程度社区获得性肺炎(CAP)患者预后与凝血功能的相关性。方法收集我院呼吸科2011年9月至2012年12月间收治的89例CAP患者,其中低危组47例、中高危组42例。比较2组的临床资料及血小板、凝血酶时间(TT)、凝血酶原时间(PT)、活化的部分凝血活酶时间(APTT)、纤维蛋白原(Fib)及D-二聚体(DD)等凝血指标,分析不同预后组患者的差异。结果中高危组PT、TT、DD数值分别是(16.2±1.5) s、(16.9±1.9) s及(8.1±7.4) mg/L,均显著高于低危组(11.5±1.4) s、(9.5±1.7) s及(1.6±3

  14. Chromosomal abnormalities in a psychiatric population

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W. [Univ. of Pittsburgh Medical Center, PA (United States)

    1995-02-27

    Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.

  15. Deoxyribonucleic acid damage study in primary amenorrhea by comet assay and karyotyping

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    Sarah Ramamurthy

    2013-01-01

    Full Text Available Aim: This study aims at evaluating the chromosomal abnormalities and deoxyribonucleic acid (DNA damage in cases with primary amenorrhea by karyotyping and comet assay. Study Design: A total of 30 cases of primary amenorrhea were recruited. Secondary sexual characters were assessed by Tanner staging. Chromosomal analysis was performed by conventional phytohemagglutinin stimulated lymphocyte cell culture technique. Alkaline version of comet assay was used to evaluate DNA damage. Results: The chromosomal pattern of 20 subjects (66.7% was found to be normal (46,XX. Two subjects had 46,XY pattern and eight subjects had Turner syndrome (45,X or 45,X/46,XX. The comet parameters were found to be increased among subjects with 45,X monosomy, when compared to the rest of the study group and also in subjects with Tanner stage 1 when compared to stage 2. Conclusion: Comet assay revealed increased DNA damage in cases with 45,X monosomy, compared with subjects with 46,XX and 46,XY karyotype, which correlated with clinical features.

  16. A review of metaphase chromosome image selection techniques for automatic karyotype generation.

    Science.gov (United States)

    Arora, Tanvi; Dhir, Renu

    2016-08-01

    The karyotype is analyzed to detect the genetic abnormalities. It is generated by arranging the chromosomes after extracting them from the metaphase chromosome images. The chromosomes are non-rigid bodies that contain the genetic information of an individual. The metaphase chromosome image spread contains the chromosomes, but these chromosomes are not distinct bodies; they can either be individual chromosomes or be touching one another; they may be bent or even may be overlapping and thus forming a cluster of chromosomes. The extraction of chromosomes from these touching and overlapping chromosomes is a very tedious process. The segmentation of a random metaphase chromosome image may not give us correct and accurate results. Therefore, before taking up a metaphase chromosome image for analysis, it must be analyzed for the orientation of the chromosomes it contains. The various reported methods for metaphase chromosome image selection for automatic karyotype generation are compared in this paper. After analysis, it has been concluded that each metaphase chromosome image selection method has its advantages and disadvantages.

  17. Abnormalities of chromosome 17 in myelodysplastic syndromes: Incidence and biological significance

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    Marisavljević Dragomir

    2004-01-01

    Full Text Available Cytogenetic analysis has proven to be a mandatory part of the diagnosis of myelodysplastic syndromes (MDS as well as a major indicator for predicting clinical course and outcome. Aside from the 5q-syndrome, no specific clinico-cytogenetic entity has been reported. To determine the incidence and clinical significance of acquired abnormalities of chromosome 17 in adult primary MDS, we reviewed the cytogenetic features of 271 patients detected at our institution during a 10-year period. Clonal cytogenetic abnormalities were identified in 109 cases. Among them, abnormalities of chromosome 17 were identified in 13 patients (11.9%. Five patients had „single" defects, while in eight patients abnormalities of chromosome 17 were associated with other chromosomal rearrangements („complex" defects. After chromosomes 5,7,8 and 1, abnormalities of chromosome 17 were the most frequent chromosomal rearrangements in our patients with MDS. Following „single" defects of chromosome 17 were identified: del(17(pl2 in two cases, and i(17(q10, del(17(q21;q23 and del(17(ql2;q22 in one case each. Two patients with del(17p, one with RAEB-t and the other one with CMML, had an aggressive course of the disease with accelerated leukemic transformation and short survival. Patient with i(17q had RARS subtype and died soon after diagnosis, while other two cases with interstitial deletions of the long arm of chromosome 17 had RAEB subtype and stable, no progressive course of the disease. Among „complex" karyotypes with abnormalities of chromosome 17 we identified der(l 7 in four, monosomy 17 in two, and del(17p and i(17q in one case each. Most of these patients transformed to acute leukemia and had very short survival. The results of this study suggest that abnormalities of chromosome 17 are frequent finding in MDS. Loss of genetic material in 17p, both in „single" and „complex" defects, seems to be closely related to poor prognosis of MDS patients.

  18. Acquired platelet function defect

    Science.gov (United States)

    Acquired qualitative platelet disorders; Acquired disorders of platelet function ... blood clotting. Disorders that can cause problems in platelet function include: Idiopathic thrombocytopenic purpura Chronic myelogenous leukemia Multiple ...

  19. An analysis on karyotype of amniotic fluid cells from 1262 fetus%1262例孕中期羊水细胞染色体检查结果分析

    Institute of Scientific and Technical Information of China (English)

    李小燕; 卢守莲; 王珏; 黄欢; 孙丽洲

    2013-01-01

    Objective To understand the relationship between the abnormal karyotype and amniocentesis indication for providing a basis for genetic counseling.Methods The amniotic fluid samples were taken from 1262 outpatients with the indications of prenatal diagnosis.After the cells in amniotic fluid were cultured,the karyotyping was performed with G-banding stain and grouped according to different indications.The incidence of abnormal karyotype was analyzed and the parents of fetal structural abnormalities chromosomes were checked to search for the origin of abnormal karyotype.Results A total of 65 patients with abnormal karyotype was detected in 1262 fetuses karyotype with an abnormal rate of 5.3 %,of which aneuploidy rate was 44.6 % (29/65),chromosome structural abnormality rate was 41.5 % (27/65),and marker chromosome rate was 10.8 % (7/65).Conclusion Abnormal karyotype composition is different according to different maternal amniocentesis indications,indicating the importance of mastering the indications for amniocentesis.%目的 了解异常核型与产前诊断指征的关系,为临床遗传咨询提供依据.方法 抽取1262例有产前诊断指征的孕妇孕中期羊水,细胞培养后G显带染色,分析胎儿染色体核型,并根据不同产前诊断指征进行分组.分析不同指征的发病率,并对染色体结构异常胎儿的父母染色体进行检查,以确定结构异常来源.结果 1262例羊水细胞染色体检查者,共检出65例异常核型,异常核型发生率为5.3%.其中,以非整倍体最多见,共检出29例(44.6%);其次为染色体结构异常,共检出27例(41.5%);检出染色体多态性改变7例(10.8%).结论 不同产前诊断指征染色体异常的检出比例有所不同,说明严格把握产前诊断指征的重要性.

  20. Strategies of karyotype differentiation in Elateridae (Coleoptera, Polyphaga).

    Science.gov (United States)

    Schneider, Marielle Cristina; Rosa, Simone Policena; Almeida, Mara Cristina; Costa, Cleide; Cella, Doralice Maria

    2007-01-01

    The chromosome study of five species of the family Elateridae, belonging to the subfamilies Agrypninae and Elaterinae, and the analysis of the cytogenetic data previously recorded for this family permitted the establishment of the main strategies of karyotypic differentiation that has occurred in the elaterids. In Agrypninae, the three species studied (Conoderus fuscofasciatus, Conoderus rufidens, and Conoderus sp.) showed the male karyotype 2n=16+X0. This karyotypic uniformity detected in these Conoderus species has also been shared with other species of the same genus, differing considerably from chromosomal heterogeneity verified in the subfamily Agrypninae. The use of the C-banding technique in C. fuscofasciatus and Conoderus sp. revealed constitutive heterochromatin in the pericentromeric region of the majority of the chromosomes. In C. fuscofasciatus, additional constitutive heterochromatin were also observed in the long arm terminal region of almost all chromosomes. Among the representatives of Elaterinae, the karyotype 2n=18+Xy(p) of Pomachilius sp.2 was similar to that verified in the majority of the Coleoptera species, contrasting with the chromosomal formula 2n=18+X0 detected in Cardiorhinus rufilateris, which is most common in the species of Elaterinae. In the majority of the elaterids, the chromosomal differentiation has frequently been driven by reduction of the diploid number; but, among the four cytogenetically examined subfamilies, there are some differences in relation to the trends of karyotypic evolution.

  1. Meiotic behaviour and sperm aneuploidy in an infertile man with a mosaic 45,X/46,XY karyotype.

    Science.gov (United States)

    Ren, He; Chow, Victor; Ma, Sai

    2015-12-01

    The meiotic behaviour of the germ cells in 45,X/46,XY men has not been extensively studied. This study investigated the meiotic events and sperm aneuploidy in an azoospermic man with a 45,X/46,XY (50/50) mosaic karyotype to better understand the fate of the 45,X cells and the production of chromosomally abnormal spermatozoa. Combining immunofluorescence techniques and fluorescence in-situ hybridization, meiotic recombination, synapsis, meiotic sex chromosome inactivation (MSCI) and configuration were analysed, as well as sperm aneuploidy in the patient and 10 normal, fertile men. Despite the 50:50 somatic mosaicism in the patient, 25% of pachytene cells analysed were 45,X. Furthermore, 63% of pachytene cells were 46,XY with paired sex chromosomes, and 12% were 46,XY with unpaired sex chromosomes, which displayed abnormal MCSI patterns. Although the patient's testicular spermatozoa showed increased aneuploidy, the majority were of normal constitution. The X:Y sperm ratio was significantly increased compared with the controls (P < 0.001), which may indicate that some 45,X cells gave rise to X-bearing spermatozoa. The findings provide insight into the fate of 45,X/46,XY cells in meiosis, supporting the hypothesis that stringent checkpoints ensure the favourable production of spermatozoa with normal chromosomal constitution despite an individual's abnormal karyotype.

  2. Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt

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    Faeza El-Dahtory

    2012-01-01

    Conclusion: The present study showed that karyotype and FISH are necessary to detect the causes of primary amenorrhea. This study also revealed the incidence of chromosomal abnormalities in women with primary amenorrhea in Egypt is similar to that reported in previous literatures.

  3. Karyotype of three Lonchophylla species (Chiroptera, Phyllostomidae) from Southeastern Brazil

    Science.gov (United States)

    Almeida, Brunna; Novaes, Roberto Leonan Morim; Aguieiras, Marcia; Souza, Renan de França; Esbérard, Carlos Eduardo Lustosa; Geise, Lena

    2016-01-01

    Abstract Lonchophylla Thomas, 1903 is a Neotropical bat genus that comprises 12 species, with little cytogenetic information available. Here we present the description of the karyotype of three species collected in Southeastern Brazil. Lonchophylla bokermanni Sazima, Vizotto & Taddei, 1978, Lonchophylla dekeyseri Taddei, Vizotto & Sazima, 1983, and Lonchophylla peracchii Dias, Moratelli & Esberard, 2013 showed the same diploid number 2n = 28 and the same autosomal fundamental number FNa = 50, in both Lonchophylla bokermanni and Lonchophylla peracchii. We observed that the karyotypes were also cytogenetically similar when we compared the studied species with other species within the same genus. It is therefore not possible to differentiate the species using only karyotypes with conventional staining. However, this information increases the knowledge of the genus and can be one more important character for a better phylogenetic comprehension of this taxon. PMID:27186341

  4. Abnormalities of chromosome 1p/q are highly associated with chromosome 13/13q deletions and are an adverse prognostic factor for the outcome of high-dose chemotherapy in patients with multiple myeloma.

    Science.gov (United States)

    Wu, Ka Lung; Beverloo, Berna; Lokhorst, Henk M; Segeren, Christine M; van der Holt, Bronno; Steijaert, Monique M; Westveer, Petra H; Poddighe, Pino J; Verhoef, Gregor E; Sonneveld, Pieter

    2007-02-01

    The prognostic value of chromosomal abnormalities was studied in untreated multiple myeloma patients who were registered into a prospective randomised multicentre phase 3 study for intensified treatment (HOVON24). A total of 453 patients aged less than 66 years with stage II and III A/B disease were registered in the clinical study. Cytogenetic analysis was introduced as a standard diagnostic assay in 1998. It was performed at diagnosis in 160 patients and was successful in 137/160 patients (86%). An abnormal karyotype was observed in 53/137 (39%) of the patients. Abnormalities of chromosome 1p and 1q were found in 19 (36% of patients with an abnormal karyotype) and 21 patients (40%). There was a strong association between chromosome 1p and/or 1q abnormalities and deletion of chromosome 13 or 13q (n = 27, P < 0.001). Patients with karyotypic abnormalities had a significantly shorter overall survival (OS) than patients with normal karyotypes. Complex abnormalities, hypodiploidy, chromosome 1p abnormalities, chromosome 1q abnormalities, and chromosome 13 abnormalities were associated with inferior OS on univariate analysis, as well as after adjustment for other prognostic factors. In conclusion, chromosome 13 abnormalities and chromosome 1p and/or 1q abnormalities were highly associated, and are risk factors for poor outcome after intensive therapy in multiple myeloma.

  5. Chromosomal karyotype analysis of 33 cases of myelodysplastic syndrome%33例骨髓增生异常综合征的染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    何涛

    2012-01-01

    目的 分析染色体核型异常在骨髓增生异常综合征(MDS)诊断、预后评估中的价值.方法 对33例MDS患者按常规行骨髓穿刺,进行形态学检查,同时对患者骨髓细胞进行染色体培养,采用直接法、短期培养法和RHG显带技术制备染色体,进行核型分析.结果 33例MDS患者中,染色体核型异常者15例,异常核型检出率45.4%,其中MDS - RA 1例占3%,MDS-RARS 1例占3%,MDS - RCMD 4例占12.1%,MDS - RAEB1 6例占18.2%,MDS - RAEB2 3例占9.1%.MDS - RAEB1、2较RA、RARS、RCMD检测到更高的异常核型比例.结论 MDS的染色体核型异常,各型之间差异较大,染色体核型分析对MDS的诊断、分型及预后评估有重要价值.%Objective To analyze the value of chromosome abnormal karyotype in diagnosis and prognosis of myelodysplastic syndrome (MDS). Methods 33 cases of MDS patients were carried out routine bone marrow aspiration and to be morphologically checked, while the bone marrow cells of the patients were chromosomally cultured, using direct method ,brief culture of cells and R - banding techniques, then karyotype analysis was performed. Results Among 33 cases of MDS patients, 15 cases were found with chromosomal abnormal karyotype, the abnormal karyotype detection rate was 45.4% , in which there were 1 case (3% ) of MDS - RA, 1 case (3% ) of MDS -RARS, 4 cases (12. 1% ) of MDS - RCMD, 6 cases (18. 2% ) of MDS - RAEB1, and 3 cases (9. 1% ) of MDS - RAEB2. The abnormal karyotype detection rate in MDS - RAEB1 and MDS - RAEB2 was much higher than that in RA, RARS, RCMD. Conclusion Karyotype abnormalities are the larger differences between various types of karyotype analysis of MDS, so karyotype analysis is very useful for diagnosis, typing and prognosis evaluation in MDS.

  6. Down syndrome child with 48,XXY,+21 karyotype

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    Cyrus Cyril

    2005-01-01

    Full Text Available Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carried out using conventional Giemsa-trypsin-banding technique. Fifty-five individuals (91% exhibited a free trisomy 21. Robertsonian translocations were seen in three cases and two cases exhibited a normal karyotype. A four-month-old child, the second-born of non-consanguineous parents, possessed an extra X chromosome in addition to trisomy 21. The proband′s parents and his brother showed a normal karyotype. The phenotypic characteristics of this child have been discussed in the light of the published reports on double aneuploidies of XXY and trisomy 21.

  7. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

    Science.gov (United States)

    Vermeesch, Joris R; Melotte, Cindy; Froyen, Guy; Van Vooren, Steven; Dutta, Binita; Maas, Nicole; Vermeulen, Stefan; Menten, Björn; Speleman, Frank; De Moor, Bart; Van Hummelen, Paul; Marynen, Peter; Fryns, Jean-Pierre; Devriendt, Koen

    2005-03-01

    Array CGH (comparative genomic hybridization) enables the identification of chromosomal copy number changes. The availability of clone sets covering the human genome opens the possibility for the widespread use of array CGH for both research and diagnostic purposes. In this manuscript we report on the parameters that were critical for successful implementation of the technology, assess quality criteria, and discuss the potential benefits and pitfalls of the technology for improved pre- and postnatal constitutional genetic diagnosis. We propose to name the genome-wide array CGH "molecular karyotyping," in analogy with conventional karyotyping that uses staining methods to visualize chromosomes.

  8. First karyotype data on the family Myerslopiidae (Hemiptera, Auchenorrhyncha, Cicadomorpha

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    Natalia Golub

    2014-11-01

    Full Text Available In the first cytogenetic study of the recently proposed family Myerslopiidae the male karyotype of Mapuchea chilensis (Nielson, 1996 was analyzed using conventional chromosome staining, AgNOR- and C-bandings, and fluorescence in situ hybridization (FISH with 18S rDNA and (TTAGGn telomeric probes. A karyotype of 2n = 16 + XY, NOR on a medium-sized pair of autosomes, subterminal location of C-heterochromatin, and presence of (TTAGGn telomeric sequence were determined. Additionally, the male internal reproductive system was studied.

  9. Fetal calcifications are associated with chromosomal abnormalities.

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    Ellika Sahlin

    Full Text Available The biological importance of calcifications occasionally noted in fetal tissues (mainly liver at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal abnormalities. To identify factors associated with calcifications, we have performed a case-control study on the largest cohort of fetuses with calcifications described thus far.One-hundred and fifty-one fetuses with calcifications and 302 matched controls were selected from the archives of the Department of Pathology, Karolinska University Hospital. Chromosome analysis by karyotyping or quantitative fluorescence-polymerase chain reaction was performed. Autopsy and placenta reports were scrutinized for presence of malformations and signs of infection.Calcifications were mainly located in the liver, but also in heart, bowel, and other tissues. Fetuses with calcifications showed a significantly higher proportion of chromosomal abnormalities than controls; 50% vs. 20% (p<0.001. The most frequent aberrations among cases included trisomy 21 (33%, trisomy 18 (22%, and monosomy X (18%. A similar distribution was seen among controls. When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004. Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001.The presence of fetal calcifications is associated with high risk of chromosomal abnormality in combination with malformations. Identification of a calcification together with a malformation at autopsy more than doubles the probability of detecting a chromosomal abnormality, compared with identification of a malformation only. We propose that identification of a fetal tissue calcification at autopsy, and potentially also at ultrasound examination, should infer

  10. Meiotic chromosome abnormalities in human spermatogenesis.

    Science.gov (United States)

    Martin, Renée H

    2006-08-01

    The last few years have witnessed an explosion in the information about chromosome abnormalities in human sperm and the meiotic events that predispose to these abnormalities. We have determined that all chromosomes are susceptible to nondisjunction, but chromosomes 21 and 22 and, especially, the sex chromosomes have an increased frequency of aneuploidy. Studies are just beginning on the effects of potential mutagens on the chromosomal constitution of human sperm. The effects of pesticides and cancer therapeutic agents have been reviewed. In the last decade, there has been a great impetus to study chromosome abnormalities in sperm from infertile men because the advent of intracytoplasmic sperm injection (ICSI) made it possible for these men to father pregnancies. A large number of studies have demonstrated that infertile men have an increased frequency of chromosomally abnormal sperm and children, even when they have a normal somatic karyotype. Meiotic studies on the pachytene stage of spermatogenesis have demonstrated that infertile men have impaired chromosome synapsis, a significantly decreased frequency of recombination, and an increased frequency of chromosomes completely lacking a recombination site. Such errors make these cells susceptible to meiotic arrest and the production of aneuploid gametes.

  11. Karyotypic evolution during neoplastic progression in nude mice

    Energy Technology Data Exchange (ETDEWEB)

    Kraemer, P.M.; Campbell, E.W.; Cooper, J.L.; Stallings, R.; Wharton, W.

    1985-01-01

    When tumorigenic cultured cell populations are inoculated into nude mice, the tumorigenic process generally requires further progression and selection in vivo. This in vivo progression should be reflected in the altered properties of the tumor cells, as compared to the cells implanted. Karyotypic instability was studied during this process. 6 refs., 5 figs.

  12. Karyotypes of parasitic Hymenoptera: Diversity, evolution and taxonomic significance

    Institute of Scientific and Technical Information of China (English)

    VLADIMIR E. GOKHMAN

    2006-01-01

    Haploid chromosome numbers (n) of parasitic Hymenoptera (= traditional Parasitica + Chrysidoidea) vary from 2 to 23. However, this range can be subdivided into three intervals with n = 14-23 (less derived parasitic wasps, e.g., some Ichneumonidae and Braconidae as well as Gasteruptiidae), 8-13 (many other parasitic Hymenoptera) and 2-7(Dryinidae, the majority of Chalcidoidea and some advanced Braconidae, e.g. Aphidiinae).The symmetric karyotype with a relatively high chromosome number (n = 14-17) and the prevalence of biarmed chromosomes must be considered as a groundplan feature of parasitic Hymenoptera. Independent reductions of chromosome numbers (n ≤ 10-11) occurred in some groups of the superfamily Ichneumonoidea as well as in the common ancestor of the Proctotrupoidea sensu lato, Ceraphronoidea, Cynipoidea and Chalcidoidea. Further multiple decreases in chromosome numbers (n ≤ 4-6) took place in some Braconidae, various lineages of the superfamily Chalcidoidea as well as in the family Dryinidae. Two main trends prevailed in the karyotype evolution of parasitic wasps: the reduction of chromosome numbers (mainly due to tandem fusions and less frequently due to centric ones) and karyotypic dissymmetrization (through an increase in size differentiation of chromosomes and/or in the share of acrocentrics in a chromosome set). Although karyotypic features of parasitic Hymenoptera can be used for solving taxonomic problems at various levels, this method is the most effective at the species level.

  13. Karyotype instability in the ponerine ant genus Diacamma

    Indian Academy of Sciences (India)

    Nutan Karnik; H. Channaveerappa; H. A. Ranganath; Raghavendra Gadagkar

    2010-08-01

    The queenless ponerine ant Diacamma ceylonense and a population of Diacamma from the Nilgiri hills which we refer to as ‘nilgiri’, exhibit interesting similarities as well as dissimilarities. Molecular phylogenetic study of these morphologically almost similar taxa has shown that D. ceylonense is closely related to ‘nilgiri’ and indicates that ‘nilgiri’ is a recent diversion in the Diacamma phylogenetic tree. However, there is a striking behavioural difference in the way reproductive monopoly is maintained by the respective gamergates (mated egg laying workers), and there is evidence that they are genetically differentiated, suggesting a lack of gene flow. To develop a better understanding of the mechanism involved in speciation of Diacamma, we have analysed karyotypes of D. ceylonense and ‘nilgiri’. In both, we found surprising inter-individual and intra-individual karyotypic mosaicism. The observed numerical variability, both at intra-individual and inter-individual levels, does not appear to have hampered the sustainability of the chromosomal diversity in each population under study. Since the related D. indicum displays no such intra-individual or inter-individual variability whatsoever under identical experimental conditions, these results are unlikely to be artifacts. Although no known mechanisms can account for the observed karyotypic variability of this nature, we believe that the present findings on the ants under study would provide opportunities for exciting new discoveries concerning the origin, maintenance and significance of intra-individual and inter-individual karyotypic mosaicism.

  14. Karyotypes of six previously unstudied European mealybugs (Homoptera: Pseudococcidae

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    Ilya Gavrilov-Zimin

    2010-12-01

    Full Text Available Phenacoccus peruvianus Granada de Willink, 2007, Ph. prope avenae Borchsenius, 1949, Ph. hordei (Lindeman, 1886, Вalanococcus boratynskii Williams, 1962, Trionymus  radicum (Newstead, 1895, Rhizoecus halophilus (Hardy, 1868 were studied karyologically for the first time. All species demonstrate 2n=10 and a Lecanoid genetic system. Photos of karyotypes of all studied species are given.

  15. Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception

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    D Saxena

    2016-01-01

    Full Text Available Background and Introduction: Chromosomal abnormality is found in about half of first-trimester abortions. Karyotype is the gold standard to detect chromosomal abnormalities. Multiplex ligation-dependent probe amplification (MLPA offers advantage over karyotype in terms of lower failure rate, faster turnaround time, and much higher resolution than conventional karyotyping and found to be 98% concordant with conventional karyotype. Aim: We performed this study to look for the utility of MLPA in diagnosing chromosomal abnormalities in first-trimester abortions. Materials and Methods: MLPA using subtelomeric SALSA probe sets (P036 and P070 was used to detect cytogenetic abnormalities in products of conception in missed/spontaneous abortions. Results: A total of ninety abortus samples were analyzed by MLPA. Successful results were provided in (67 74.4% of the cases while no conclusion could be drawn in 25.6% (23 of the cases. Fifty-five (82.1% cases were cytogenetically normal and 17.9% (12 had some abnormality. Aneuploidy was detected in 8 (66.7% cases, 3 (25% had double-segment imbalance, and one (8.3% had partial aneuploidy. Conclusion: We suggest that MLPA is a good substitute to traditional karyotype.

  16. Study of karyotypes in Case of Recurrent Abortions in Gujarat

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    N. Parikh

    2015-06-01

    Full Text Available Introduction: - The biological definition of miscarriage is the expulsion of the conceptus before viability has been achieved. The definition of recurrent miscarriage is three or more consecutive spontaneous abortions. The risk factors for recurrent miscarriage are epidemiological, genetic, anatomical disorders, endocrinal, reproductive tract infections, thrombophilic disorders, disorders of materno-fetal alloimmune relationships, environmental effects and psychological causes. About 50% to 60% of all first trimester abortions are associated with derangement of one or more chromosomal complements. Aim: - The aim of this study was to assess frequency and increasing the awareness of physician about the nature of chromosomal aberration that contribute to the occurrence of repeated abortions. Material & Methods: - Patient of recurrent abortion was investigated by history taking, examination and investigations. For present study 20 women having two or more consecutive spontaneous abortions, who attended outdoor & indoor patient department, were selected and karyotyping was done. In 10 of the above cases karyotype study of both partners was done. So in total 30 individuals (20 females & 10 males were selected for Cytogenetic study. In all cases relevant history and clinical findings and other investigations were noted. Blood samples were obtained and karyotype study was performed at Genetic Laboratory, B. J. Medical College, Ahmedabad. Results and Conclusions: - Cytogenetic evaluation by karyotypes revealed robertsonian translocation in one (5% female; this patient had a history of 2 spontaneous abortions and two times IVF failure, she had history of chocolate cyst of ovary and family history of infertility. No numerical anomaly; mosaicism or inversions were found in this study; 23 cases had normal karyotype and remaining 6 cases came out inconclusive.

  17. Is the Karyotype of Neotropical Boid Snakes Really Conserved? Cytotaxonomy, Chromosomal Rearrangements and Karyotype Organization in the Boidae Family

    Science.gov (United States)

    Viana, Patrik F.; Ribeiro, Leila B.; Souza, George Myller; Chalkidis, Hipócrates de Menezes; Gross, Maria Claudia; Feldberg, Eliana

    2016-01-01

    Boids are primitive snakes from a basal lineage that is widely distributed in Neotropical region. Many of these species are both morphologically and biogeographically divergent, and the relationship among some species remains uncertain even with evolutionary and phylogenetic studies being proposed for the group. For a better understanding of the evolutionary relationship between these snakes, we cytogenetically analysed 7 species and 3 subspecies of Neotropical snakes from the Boidae family using different chromosomal markers. The karyotypes of Boa constrictor occidentalis, Corallus hortulanus, Eunectes notaeus, Epicrates cenchria and Epicrates assisi are presented here for the first time with the redescriptions of the karyotypes of Boa constrictor constrictor, B. c. amarali, Eunectes murinus and Epicrates crassus. The three subspecies of Boa, two species of Eunectes and three species of Epicrates exhibit 2n = 36 chromosomes. In contrast, C. hortulanus presented a totally different karyotype composition for the Boidae family, showing 2n = 40 chromosomes with a greater number of macrochromosomes. Furthermore, chromosomal mapping of telomeric sequences revealed the presence of interstitial telomeric sites (ITSs) on many chromosomes in addition to the terminal markings on all chromosomes of all taxa analysed, with the exception of E. notaeus. Thus, we demonstrate that the karyotypes of these snakes are not as highly conserved as previously thought. Moreover, we provide an overview of the current cytotaxonomy of the group. PMID:27494409

  18. Nail abnormalities in patients with vitiligo

    OpenAIRE

    Topal, Ilteris Oguz; Gungor, Sule; Kocaturk, Ozgur Emek; Duman, Hatice; Durmuscan, Mustafa

    2016-01-01

    Abstract: Background: Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. Objective: We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the corre...

  19. The human autonomous karyotype and the origins of prenatal testing: children, pregnant women and early Down's syndrome cytogenetics, Madrid 1962-1975.

    Science.gov (United States)

    Santesmases, María Jesús

    2014-09-01

    Through their ability to reveal and record abnormal chromosomes, whether inherited or accidentally altered, chromosomal studies, known as karyotyping, became the basis upon which medical genetics was constructed. The techniques involved became the visual evidence that confirmed a medical examination and were configured as a material culture for redefining health and disease, or the normal and the abnormal, in cytological terms. I will show that the study of foetal cells obtained by amniocentesis led to the stabilisation of karyotyping in its own right, while also keeping pregnant women under the vigilant medical eye. In the absence of any other examination, prenatal diagnosis by foetal karyotyping became autonomous from the foetal body. Although medical cytogenetics was practiced on an individual basis, data collected about patients over time contributed to the construction of population figures regarding birth defects. I study this complex trajectory by focussing on a Unit for Cytogenetics created in 1962 at the Clínica de la Concepción in Madrid. I incorporate the work and training of the clinicians who created the unit, and worked there as well as at other units in the large new hospitals of the national health care system built in Madrid during the mid-1960s and early 1970s.

  20. Ultrasound screening program for chromosomal abnormalities: The first 2000 women

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    Novakov-Mikić Aleksandra

    2007-01-01

    Full Text Available Introduction Screening for chromosomal abnormalities identifies the group of women at higher risk for having a fetus with chromosomal abnormalities and the need for fetal karyotyping. In order to provide high quality screening, strict criteria for certification of operators are introduced, issued by the Fetal Medicine Foundation (FMF, which enables annual external control of results. The aim of this study was to review the results of five-year prenatal screening for chromosomal abnormalities in Novi Sad, Serbia. Material and methods Ultrasound screening at 11-15 weeks gestation was performed, assessing fetal morphology, crowner-rump length and nuchal translucency (NT according to the FMF guidelines. Risk for chromosomal abnormalities included the initial risk, based on maternal age, gestational age and anamnestic data, and corrected risk, which took into account the initial risk and the value of the nuchal translucency. The corrected risk was issued by the computer program issued by the FMF. Results During the period 1999 - 2004, 4580 pregnant women were scanned. The risk for chromosomal abnormality was calculated using the FMF program in 2245 cases and the outcome was known in 1406 cases. The majority of women were between 25 and 29 years of age (37%, and 12% were older than 35 years. NT was below the median in 43% of cases and above in 57%, 3.7% of cases were above the 95th centile. 89% of women were younger than 35, and the risk was reduced in 97% of cases. There were three false negative cases. In 3% of women from this group the risk was increased, out of which there were five cases of trisomy 21 and two terminations were done due to major anomalies. In the group of women over 35 years, the risk was reduced in 95% of cases and in all of them but two the karyotype was normal. In one of the two cases there was a large omphalocele and the karyotype was trisomy 18, and in the other fetus appeared normal, but after amniocentesis due to maternal

  1. Chromosomal Abnormalities in Iranian Infertile Males who are Candidates for Assisted Reproductive Techniques

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    Iman Salahshourifar

    2007-01-01

    Full Text Available Background: The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs.Materials and Methods: Cytogenetic analysis was performed according to standard methods on cultured cells obtained from the patient peripheral blood. In all, 874 files belonging to male partner of each couple were classified as follows: azoospermic, oligozoospermic and patients with low sperm quality in respect of morphology and motility.Results: Chromosomal abnormalities were observed in 136(15.5% individuals of the whole population studied including 12.0 %, 1.2 % and 2.0% of azoospermic, oligozoospermic and patients with low sperm quality, respectively. Of those, 116 (13.2% had sex chromosome abnormalities and 20(2.3% had autosomal chromosome abnormalities.Conclusion: We observed high frequency of aneuploidy and sex chromosomal mosaicism in azoospermic men and high structural aberrations in males with low sperm quality. We suggested that type of chromosomal abnormalities had an inverse relation to sperm count. So that, high chromosomal aneuploidy was detected in males with lower sperm count and high structural aberration was detected in males with low sperm quality. Chromosomal abnormalities are a major cause of male infertility. Consequently, Genetic testing and counselling is indicated for infertile men with abnormal semen parameters with either abnormal karyotype or normal karyotype before applying assisted reproductive techniques.

  2. Karyotype and nuclear DNA content of Trichomycterus areolatus (Siluriformes, Trichomycteridae

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    Nelson Colihueque

    2006-01-01

    Full Text Available Cytogenetic analysis of Trichomycterus areolatus, collected from the Tijeral and Huilma Rivers in southern Chile has shown a diploid chromosome number of 2n = 54, a fundamental number of FN = 106, and a karyotypic formula of 44m + 8sm + 2st. Intra-individual polymorphism of chromosome number (2n = 54, 55 and 56 in specimens from the Huilma River has also been documented, providing further evidence of the occurrence of this phenomenon in Trichomycterus. The karyotype exhibited large chromosome pairs: metacentric pairs 1 (relative length 7.54%, 2 (5.75% and 3 (5.09%, submetacentric pair 23 (5.25%, and subtelocentic pair 27 (5.28%. Nuclear DNA content analysis showed an average value of 5.04 ± 1.09 pg/nucleus. This DNA content is higher than the mean value described for other species in this genus.

  3. Electrophoretic molecular karyotype of the dermatophyte Trichophyton rubrum

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    Cervelatti Eliane P.

    2004-01-01

    Full Text Available The electrophoretic karyotype of the dermatophyte Trichophyton rubrum was established using contour-clamped homogeneous electric field (CHEF gel electrophoresis. Five chromosomal bands of approximately 3.0 to 5.8 megabase pairs (Mbp each were observed and together indicated that 22.05 Mbp of the total genome are organized as chromosomal macromolecules. In addition to establishing the number and size of T. rubrum chromosomes, these results open perspectives for the construction of chromosome-specific libraries and for the physical mapping of genes of interest, thus permitting future gene linkage studies in this pathogen. A detailed understanding of the karyotype and genomic organization of T. rubrum should contribute to further genetic, taxonomic and epidemiological studies of this dermatophyte.

  4. Clinical disease characteristics according to karyotype in Turner syndrome

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    Chae Young Yeo

    2010-02-01

    Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

  5. The ancestral eutherian karyotype is present in Xenarthra.

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    Marta Svartman

    2006-07-01

    Full Text Available Molecular studies have led recently to the proposal of a new super-ordinal arrangement of the 18 extant Eutherian orders. From the four proposed super-orders, Afrotheria and Xenarthra were considered the most basal. Chromosome-painting studies with human probes in these two mammalian groups are thus key in the quest to establish the ancestral Eutherian karyotype. Although a reasonable amount of chromosome-painting data with human probes have already been obtained for Afrotheria, no Xenarthra species has been thoroughly analyzed with this approach. We hybridized human chromosome probes to metaphases of species (Dasypus novemcinctus, Tamandua tetradactyla, and Choloepus hoffmanii representing three of the four Xenarthra families. Our data allowed us to review the current hypotheses for the ancestral Eutherian karyotype, which range from 2n = 44 to 2n = 48. One of the species studied, the two-toed sloth C. hoffmanii (2n = 50, showed a chromosome complement strikingly similar to the proposed 2n = 48 ancestral Eutherian karyotype, strongly reinforcing it.

  6. Sex Determination, Sex Chromosomes, and Karyotype Evolution in Insects.

    Science.gov (United States)

    Blackmon, Heath; Ross, Laura; Bachtrog, Doris

    2017-01-01

    Insects harbor a tremendous diversity of sex determining mechanisms both within and between groups. For example, in some orders such as Hymenoptera, all members are haplodiploid, whereas Diptera contain species with homomorphic as well as male and female heterogametic sex chromosome systems or paternal genome elimination. We have established a large database on karyotypes and sex chromosomes in insects, containing information on over 13000 species covering 29 orders of insects. This database constitutes a unique starting point to report phylogenetic patterns on the distribution of sex determination mechanisms, sex chromosomes, and karyotypes among insects and allows us to test general theories on the evolutionary dynamics of karyotypes, sex chromosomes, and sex determination systems in a comparative framework. Phylogenetic analysis reveals that male heterogamety is the ancestral mode of sex determination in insects, and transitions to female heterogamety are extremely rare. Many insect orders harbor species with complex sex chromosomes, and gains and losses of the sex-limited chromosome are frequent in some groups. Haplodiploidy originated several times within insects, and parthenogenesis is rare but evolves frequently. Providing a single source to electronically access data previously distributed among more than 500 articles and books will not only accelerate analyses of the assembled data, but also provide a unique resource to guide research on which taxa are likely to be informative to address specific questions, for example, for genome sequencing projects or large-scale comparative studies.

  7. The ancestral eutherian karyotype is present in Xenarthra.

    Science.gov (United States)

    Svartman, Marta; Stone, Gary; Stanyon, Roscoe

    2006-07-01

    Molecular studies have led recently to the proposal of a new super-ordinal arrangement of the 18 extant Eutherian orders. From the four proposed super-orders, Afrotheria and Xenarthra were considered the most basal. Chromosome-painting studies with human probes in these two mammalian groups are thus key in the quest to establish the ancestral Eutherian karyotype. Although a reasonable amount of chromosome-painting data with human probes have already been obtained for Afrotheria, no Xenarthra species has been thoroughly analyzed with this approach. We hybridized human chromosome probes to metaphases of species (Dasypus novemcinctus, Tamandua tetradactyla, and Choloepus hoffmanii) representing three of the four Xenarthra families. Our data allowed us to review the current hypotheses for the ancestral Eutherian karyotype, which range from 2n = 44 to 2n = 48. One of the species studied, the two-toed sloth C. hoffmanii (2n = 50), showed a chromosome complement strikingly similar to the proposed 2n = 48 ancestral Eutherian karyotype, strongly reinforcing it.

  8. The Karyotype of Alstroemeria diluta Ehr. Bayer subsp. chrysantha (Alstroemeriaceae Karyotype of Alstroemeria diluta Ehr. Bayer subsp. chrysantha (Alstroemeriaceae

    Directory of Open Access Journals (Sweden)

    Carlos M Baeza

    2010-12-01

    Full Text Available The karyotype of Alstroemeria diluta subsp. chrysantha Ehr. Bayer from Chile was examined. The species has 2n = 2x = 16 chromosomes, with 4m + 4sm + 2st-sat + 4t + 2t-sat. The reported karyotype is very asymmetrical (AsK % = 71.4 and Syi = 40.0%. This karyotype is similar to that published previously for Alstroemeria graminea Phil.Alstroemeria diluta subsp. chrysantha Ehr. Bayer (Alstroemeriaceae fue examinada citológicamente. Esta especie presenta un número cromosómico somático de 2n = 2x = 16 cromosomas, con una fórmula haploide constituida por 4m + 4sm + 2st-sat + 4t + 2t-sat cromosomas. El cariotipo es muy asimétrico, con valores de AsK % = 71,4 y Syi = 40,0%. Estos resultados se compararon con los de Alstroemeria graminea Phil., especie que presenta un cariotipo muy similar.

  9. Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

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    Akiko Takashima

    2016-08-01

    Full Text Available A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9(p24. Chromosomal microarray analysis (CMA is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing.

  10. Cord Blood Karyotyping: A Safe and Non-Invasive Method for Postnatal Testing of Assisted Reproductive Technology Children

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    Shabnam Zarei Moradi

    2016-09-01

    Full Text Available Background: To verify the hypothesis that the incidence of chromosomal abnormalities increases in babies conceived by different assisted reproduction procedures. The availability of the umbilical cord blood encouraged us to study this hypothesis via this method. Materials and Methods: This is a descriptive study, umbilical cord blood samples of assisted reproductive technology (ART children were analyzed with standard cytogenetic techniques (G banding. Karyotyping was possible in 109 cases. Results: The number of abnormal cases was four (3.7%, among which, three cases (2.8% were inherited and only 1 case (0.9% was a de novo translocation. In total, the incidence of de novo chromosomal abnormalities was in the range observed in all live births in the general population (0.7-1%. Conclusion: No significant difference in the incidence of chromosomal abnormality was found between ART and naturally conceived babies. To date, several studies have examined the medical and developmental outcome of ART children and still have not reached a definite conclusion. Genetic counseling is recommended as an integral part of planning of treatment strategies for couples wishing to undergo ART.

  11. Urine - abnormal color

    Science.gov (United States)

    ... medlineplus.gov/ency/article/003139.htm Urine - abnormal color To use the sharing features on this page, please enable JavaScript. The usual color of urine is straw-yellow. Abnormally colored urine ...

  12. A time stamp comparative analysis of frequent chromosomal abnormalities in Romanian patients.

    Science.gov (United States)

    Suciu, Nicolae; Plaiasu, Vasilica

    2014-01-01

    Chromosome abnormalities represent the leading cause in many human genetic disorders. Gain or loss of genetic material can disrupt the normal expression of genes important in fetal development and result in abnormal phenotypes. Approximately 60% of first-trimester spontaneous abortions exhibit karyotype abnormalities. The majority of these abnormalities consist of numerical chromosomal changes, such as autosomal trisomy, monosomy X and polyploidy. In our current study, 411 cases were analyzed over a period of 5 years, which reflected the incidence of cytogenetic abnormalities in Romania. Down syndrome showed the highest frequency at 79%. At 2.6% structural chromosome abnormality syndromes and Turner syndrome followed suit. Next were the Edwards and Patau syndromes with an incidence of 1.2%. Klinefelter, Cri du chat and Wolf-Hirschhorn syndromes all had an incidence of 0.7%. Finally, the lowest frequencies were shown by Williams at 0.4% and only one case of Beckwith-Wiedemann syndrome with abnormal karyotype. The average maternal age at childbirth was 31.15 years (SD = 6.96) and the average paternal age was 33.41 years (SD = 7.17).

  13. Nail abnormalities in patients with vitiligo*

    Science.gov (United States)

    Topal, Ilteris Oguz; Gungor, Sule; Kocaturk, Ozgur Emek; Duman, Hatice; Durmuscan, Mustafa

    2016-01-01

    Background Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. Objective We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters. Methods This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed. Results Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (p<0.001). Conclusions Nail abnormalities were more prevalent in vitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study. PMID:27579738

  14. Standard karyotype and nucleolus organizer region of Neotropical blindsnake Typhlops brongersmianus (Serpentes: Typhlopidae

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    José Augusto Ruiz García

    2007-11-01

    Full Text Available The karyotype of Typhlops brongersmianus is reported on the basis of specimens from north-eastern Argentina. The conventional Giemsa staining showed that the species has 2n = 34 chromosomes, including 8 pairs of macrochromosomes and 9 pairs of microchromosomes. Ag-NOR staining revealed the NORs location on a pair of macrochromosomes. The chromosome number and karyotypic morphology are similar to those of Neotropical typhlopid previously karyotyped.

  15. Acquired inflammatory demyelinating neuropathies.

    Science.gov (United States)

    Ensrud, E R; Krivickas, L S

    2001-05-01

    The acquired demyelinating neuropathies can be divided into those with an acute onset and course and those with a more chronic course. The acute neuropathies present as Guillain-Barré syndrome and include acute inflammatory demyelinating polyradiculoneuropathy (AIDP), Miller Fisher syndrome, acute motor axonal neuropathy (AMAN), acute motor and sensory axonal neuropathy (AMSAN), and acute pandysautonomia. The chronic neuropathies are collectively known as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and include MADSAM (multifocal acquired demyelinating sensory and motor neuropathy, also know as Lewis-Sumner syndrome) and DADS (distal acquired demyelinating symmetric neuropathy) as variants. The clinical features, pathology, pathogenesis, diagnosis, treatment, rehabilitation, and prognosis of these neuropathies are discussed.

  16. Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

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    Ros-Pérez Purificación

    2012-06-01

    Full Text Available Abstract Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY. Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1. Conclusion Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.

  17. Hospital-acquired pneumonia

    Science.gov (United States)

    ... tends to be more serious than other lung infections because: People in the hospital are often very sick and cannot fight off ... prevent pneumonia. Most hospitals have programs to prevent hospital-acquired infections.

  18. Acquired color vision deficiency.

    Science.gov (United States)

    Simunovic, Matthew P

    2016-01-01

    Acquired color vision deficiency occurs as the result of ocular, neurologic, or systemic disease. A wide array of conditions may affect color vision, ranging from diseases of the ocular media through to pathology of the visual cortex. Traditionally, acquired color vision deficiency is considered a separate entity from congenital color vision deficiency, although emerging clinical and molecular genetic data would suggest a degree of overlap. We review the pathophysiology of acquired color vision deficiency, the data on its prevalence, theories for the preponderance of acquired S-mechanism (or tritan) deficiency, and discuss tests of color vision. We also briefly review the types of color vision deficiencies encountered in ocular disease, with an emphasis placed on larger or more detailed clinical investigations.

  19. Laboratory-acquired brucellosis

    DEFF Research Database (Denmark)

    Fabiansen, C.; Knudsen, J.D.; Lebech, A.M.

    2008-01-01

    Brucellosis is a rare disease in Denmark. We describe one case of laboratory-acquired brucellosis from an index patient to a laboratory technician following exposure to an infected blood culture in a clinical microbiology laboratory Udgivelsesdato: 2008/6/9......Brucellosis is a rare disease in Denmark. We describe one case of laboratory-acquired brucellosis from an index patient to a laboratory technician following exposure to an infected blood culture in a clinical microbiology laboratory Udgivelsesdato: 2008/6/9...

  20. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    Science.gov (United States)

    Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis. PMID:27672470

  1. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

    Science.gov (United States)

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X),+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  2. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    Directory of Open Access Journals (Sweden)

    Gioconda Manassero-Morales

    2016-01-01

    Full Text Available Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X,+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  3. Chromosomal evolution in tortricid moths: conserved karyotypes with diverged features.

    Directory of Open Access Journals (Sweden)

    Jindra Síchová

    Full Text Available Moths of the family Tortricidae constitute one of the major microlepidopteran groups in terms of species richness and economic importance. Yet, despite their overall significance, our knowledge of their genome organization is very limited. In order to understand karyotype evolution in the family Tortricidae, we performed detailed cytogenetic analysis of Grapholita molesta, G. funebrana, Lobesia botrana, and Eupoecilia ambiguella, representatives of two main tortricid subfamilies, Olethreutinae and Tortricinae. Besides standard cytogenetic methods, we used fluorescence in situ hybridization for mapping of major rRNA and histone gene clusters and comparative genomic hybridization to determine the level of molecular differentiation of the W and Z sex chromosomes. Our results in combination with available data in the codling moth, Cydia pomonella, and other tortricids allow us a comprehensive reconstruction of chromosomal evolution across the family Tortricidae. The emerging picture is that the karyotype of a common ancestor of Tortricinae and Olethreutinae differentiated from the ancestral lepidopteran chromosome print of n = 31 by a sex chromosome-autosome fusion. This rearrangement resulted in a large neo-sex chromosome pair and a karyotype with n = 30 conserved in most Tortricinae species, which was further reduced to n = 28 observed in Olethreutinae. Comparison of the tortricid neo-W chromosomes showed differences in their structure and composition presumably reflecting stochasticity of molecular degeneration of the autosomal part of the neo-W chromosome. Our analysis also revealed conservative pattern of the histone distribution, which is in contrast with high rDNA mobility. Despite the dynamic evolution of rDNA, we can infer a single NOR-chromosome pair as an ancestral state not only in tortricids but probably in all Lepidoptera. The results greatly expand our knowledge of the genome architecture in tortricids, but also contribute

  4. Chromosomal evolution in tortricid moths: conserved karyotypes with diverged features.

    Science.gov (United States)

    Síchová, Jindra; Nguyen, Petr; Dalíková, Martina; Marec, František

    2013-01-01

    Moths of the family Tortricidae constitute one of the major microlepidopteran groups in terms of species richness and economic importance. Yet, despite their overall significance, our knowledge of their genome organization is very limited. In order to understand karyotype evolution in the family Tortricidae, we performed detailed cytogenetic analysis of Grapholita molesta, G. funebrana, Lobesia botrana, and Eupoecilia ambiguella, representatives of two main tortricid subfamilies, Olethreutinae and Tortricinae. Besides standard cytogenetic methods, we used fluorescence in situ hybridization for mapping of major rRNA and histone gene clusters and comparative genomic hybridization to determine the level of molecular differentiation of the W and Z sex chromosomes. Our results in combination with available data in the codling moth, Cydia pomonella, and other tortricids allow us a comprehensive reconstruction of chromosomal evolution across the family Tortricidae. The emerging picture is that the karyotype of a common ancestor of Tortricinae and Olethreutinae differentiated from the ancestral lepidopteran chromosome print of n = 31 by a sex chromosome-autosome fusion. This rearrangement resulted in a large neo-sex chromosome pair and a karyotype with n = 30 conserved in most Tortricinae species, which was further reduced to n = 28 observed in Olethreutinae. Comparison of the tortricid neo-W chromosomes showed differences in their structure and composition presumably reflecting stochasticity of molecular degeneration of the autosomal part of the neo-W chromosome. Our analysis also revealed conservative pattern of the histone distribution, which is in contrast with high rDNA mobility. Despite the dynamic evolution of rDNA, we can infer a single NOR-chromosome pair as an ancestral state not only in tortricids but probably in all Lepidoptera. The results greatly expand our knowledge of the genome architecture in tortricids, but also contribute to the

  5. [Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations].

    Science.gov (United States)

    Vorsanova, S G; Iurov, I Iu; Voinova, V Iu; Kurinnaia, O S; Zelenova, M A; Demidova, I A; Ulas, E V; Iurov, Iu B

    2013-01-01

    Molecular karyotyping using DNA microarrays (array CGH) was applied for identification of subchromosomal microdeletions in a cohort of 12 girls with clinical features of RETT syndrome, but negative for MECP2 gene mutations. Recurrent microdeletions of MECP2 gene in chromosome X (locus Xq28) were identified in 5 girls of 12 studied. Probably RTT girls with subchromosomic microdeletions in Xq28 could represent a special subtype of the disease, which appears as clinically milder than the classic form of disease. In one case, an atypical form of RTT was associated with genomic abnormalities affecting CDKL5 gene and region critical for microdeletion Prader-Willi and Angelman syndromes (15q11.2). In addition, data are presented for the first time that genetic variation in regions 3p13, 3q27.1, and 1q21.1-1q21.2 could associate with RTT-like clinical manifestations. Without application of molecular karyotyping technology and bioinformatic method of assessing the pathogenic significance of genomic rearrangements these RTT-like girls negative for MECP2 gene mutations were considered as cases of idiopathic mental retardation associated with autism. It should be noted that absence of intragenic mutations in MECP2 gene is not sufficient criteria to reject the clinical diagnosis of RTT. To avoid errors in the genetic diagnosis of this genetically heterogeneous brain disease molecular cytogenetic studies using high resolution oligonucleotide array CGH (molecular karyotyping) are needed.

  6. Arsenic trioxide in front-line therapy of acute promyelocytic leukemia (C9710): prognostic significance of FLT3 mutations and complex karyotype.

    Science.gov (United States)

    Poiré, Xavier; Moser, Barry K; Gallagher, Robert E; Laumann, Kristina; Bloomfield, Clara D; Powell, Bayard L; Koval, Gregory; Gulati, Kabir; Holowka, Nicholas; Larson, Richard A; Tallman, Martin S; Appelbaum, Frederick R; Sher, Dorie; Willman, Cheryl; Paietta, Elisabeth; Stock, Wendy

    2014-07-01

    The addition of arsenic trioxide (ATO) to frontline therapy of acute promyelocytic leukemia (APL) has been shown to result in significant improvements in disease-free survival (DFS). FLT3 mutations are frequently observed in APL, but its prognostic significance remains unclear. We analyzed 245 newly diagnosed adult patients with APL treated on intergroup trial C9710 and evaluated previously defined biological and prognostic factors and their relationship to FLT3 mutations and to additional karyotypic abnormalities. FLT3 mutations were found in 48% of patients, including 31% with an internal tandem duplication (FLT3-ITD), 14% with a point mutation (FLT3-D835) and 2% with both mutations. The FLT3-ITD mutant level was uniformly low, < 0.5. Neither FLT3 mutation had an impact on remission rate, induction death rate, DFS or overall survival (OS). The addition of ATO consolidation improved outcomes regardless of FLT3 mutation type or level, initial white blood cell count, PML-RARA isoform type or transcript level. The presence of a complex karyotype was strongly associated with an inferior OS independently of post-remission treatment. In conclusion, the addition of ATO to frontline therapy overcomes the impact of previously described adverse prognostic factors including FLT3 mutations. However, complex karyotype is strongly associated with an inferior OS despite ATO therapy.

  7. Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome

    Directory of Open Access Journals (Sweden)

    Anthony M. Vandersteen

    2009-03-01

    Full Text Available Background and Objectives: A recent report highlighted the importance of considering a chromosomal abnormality in the differential diagnosis of adult clinical psychiatry. This case report illustrates the importance of considering Fragile X syndrome, an X-linked genetic disorder associated with psychiatric morbidities. Methods: A 45 years old woman was referred to the clinical genetics department by her psychiatrist for investigation of her gross obesity, hyperphagia, learning difficulties and affective disorder. Results: Cytogenetic analysis revealed a 47,XXX karyotype. Molecular testing identified an expansion of approximately 580 repeats in the FRAXA gene carried on two of her three copies of the X chromosome. Clinical evaluation revealed features consistent with the Prader-Willi like phenotype of Fragile X syndrome. Conclusions: It is important to consider molecular and cytogenetic testing in patients with dysmorphic features, complex neuro-behavioural profile and/or psychotic disorders in order to establish a causative diagnosis, provide adequate counselling and initiate cascade screening where applicable.

  8. Female genital mutilation of a karyotypic male presenting as a female with delayed puberty

    Directory of Open Access Journals (Sweden)

    Gisselsson D

    2006-03-01

    Full Text Available Abstract Background Female genital mutilation (FGM is commonly practiced mainly in a belt reaching from East to West Africa north of the equator. The practice is known across socio-economic classes and among different ethnic, religious, and cultural groups. Few studies have been appropriately designed to measure the health effects of FGM. However, the outcome of FGM on intersex individuals has never been discussed before. Case presentation The patient first presented as a female with delayed puberty. Hormonal analysis revealed a normal serum prolactin level of 215 Mu/L, a low FSH of 0.5 Mu/L, and a low LH of 1.1 Mu/L. Type IV FGM (Pharaonic circumcision had been performed during childhood. Chromosomal analysis showed a 46, XY karyotype and ultrasonography verified a soft tissue structure in the position of the prostate. Conclusion FGM pose a threat to the diagnosis and management of children with abnormal genital development in the Sudan and similar societies.

  9. Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype.

    Science.gov (United States)

    Al-Achkar, Walid; Wafa, Abdulsamad; Liehr, Thomas; Klein, Elisabeth; Moassass, Faten

    2012-08-01

    Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The phenotypes of individuals with mosaic cell lines that exhibit structural aberrations of the X and Y chromosomes are variable and difficult to predict. Phenotypes associated with sex chromosome mosaicism vary from females with Turner syndrome to males with infertility, and include individuals with ambiguous genitalia. In this study, we report a 17-year-old male with phenotypic features of Klinefelter syndrome with an isodicentric Y chromosome and a final karyotype of 45,X[4]/46,X,idic(Y)(q11.21)[95]/47,XX,+idic(Y)(q11.21)[1]. Application of high resolution molecular cytogenetic techniques as well as molecular studies revealed two copies of the sex-determining region of Y chromosome (SRY) gene and two centromers. Additionally, the breakpoint in Yq11.21 was narrowed down between positions 13.4 and 14.3 MB (hg18). We present a patient with partial disomy of Ypter to Yq11.21 in the majority of the patient cells, showing phenotypic features of Klinefelter syndrome. The syndrome may have occurred due to a more prominent presence of the cell line 47,XX,+idic(Y)(q11.21) detected only once in 1% of the peripheral blood cells. This finding may prove helpful in similar cases with symptoms of Klinefelter syndrome, but which exhibit an absence of the cell line 47,XXY in peripheral blood.

  10. Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes.

    Science.gov (United States)

    Patwardhan, Anil J; Brown, Wendy E; Bender, Bruce G; Linden, Mary G; Eliez, Stephan; Reiss, Allan L

    2002-01-01

    The excess of 47,XXX and 47,XXY karyotypes found in cytogenetic screening studies of individuals with schizophrenia has given support for an increased risk of psychiatric illness among men and women with sex chromosomal aneuploidy (SCA). Mesial temporal lobe structures, including the amygdala and hippocampus, are thought to be associated with abnormalities of mood and behavior in humans and in the neurobiology of schizophrenia. This study focuses on variations in volumes of mesial temporal lobe structures in men and women with SCA. Utilizing an unselected birth cohort of subjects with SCA and high-resolution magnetic resonance imaging (MRI), we investigated the neuroanatomical consequences of a supernumerary X chromosome on the morphology of the amygdala and hippocampus. Regional and total brain volumes were measured in 10 subjects with 47,XXY, 10 subjects with 47,XXX, and 20 euploid controls. Amygdala volumes were significantly reduced in men with 47,XXY, compared to control men, while the decrease in women with 47,XXX was not as pronounced. Hippocampus volumes were preserved in both groups, compared to same-gender controls. Longitudinal studies of SCA individuals have shown an increased incidence of mild psychopathology and behavioral dysfunction in men with 47,XXY and more overt psychiatric illness in women with 47,XXX, compared to control populations. The alteration in amygdala volumes in individuals with a supernumerary X chromosome may provide a neuroanatomic basis for these findings.

  11. Detection of chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia

    Institute of Scientific and Technical Information of China (English)

    Shi Yun-fang; Shao Min-jie; Zhang Ying; Zhang Xiu-ling; Li Yan

    2008-01-01

    Objective:To investigate the chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia.Methods:Cytogenetic karyotype analysis and multiplex PCR were used to detect chromosomal abnormality and Y chromosome microdeletion in 99 azoospermic and 57 oligospermic patients(total 156).45 fertile men were includ-ed as controls.Results:31 patients were found with chromosomal abnormalities in 156 cases(31/156,19.9 %),20 cases showed 47,XXY,2 cases showed 46,XY/47,XXY,7 cases had Y chromosome structural abnormalities and 2 had autosomal chromosome abnormalities.There were significant differences between the frequency of AZF microde-letion in 125 cases with normal karyotype and 45 controls(P0.05).AZFa,AZFb,AZFa+b,AZFb+c,AZFa+b+d and AZFb+c+d mierodeletions were found in azoospermic patients.AZFb,AZFc,AZFd,AZFb+c+d and AZFc+d microdeletions were found in oligo-spermic patients.Conxlusion:The frequency of chromosomal abnormality was 19.9% and the frequency of Y chromosome mi-crodeletion was 15.2% in patient with azoospermia and oligozoospermia.We should pay close attention to this prob-lem.

  12. Karyotypic analysis of Skimmia japonica (Rutaceae) and related species.

    Science.gov (United States)

    Fukuda, Tomoko; Naiki, Akiyo; Nagamasu, Hidetoshi

    2007-01-01

    A karyotypic analysis of three species of Skimmia (Rutaceae) in East Asia was performed that examined 88 individuals from 53 localities. Chromosome numbers of S. japonica, S. reevesiana and S. arisanensis were 2n=30, 31, 32 (=30+0-2B), 2n=60 and 2n=60, respectively. The chromosome number of S. arisanensis was reported for the first time. All species had a large chromosome pair or quartet (the first pair or quartet) with a median-submedian centromere in the karyotype. In S. japonica the arm ratio of this first pair was considerably variable and showed a geographical pattern. In the northern half of the distribution range, Sakhalin, Hokkaido, Honshu, Shikoku and part of Kyushu, the arm ratio was 1-1.2, while in the southern half, part of Kyushu, Ryukyu and Taiwan, the arm ratio was very variable and ranged from 1.2 to 2.4. In S. japonica the first pair was sometimes rather heteromorphic; however, the heteromorphism was not related to sex of the plant.

  13. An Improved Method for Karyotype Analyses of Marine Algae

    Institute of Scientific and Technical Information of China (English)

    WANG Juan; DAI Jixun

    2008-01-01

    Modified carbol fuchsin staining method was successfully introduced into the karyotype analyses of marine algae, in-cluding Porphyra, Undaria pinnatifida and Laminaria japonica. Haploid chromosomes were numbered clearly in the vegetative, spermatangial and conchosporangial cells of P. haitanensis and P. yezoensis. Diploid chromosomes were observed and numbered in immature conchosporangial cells of P. haitanensis and P. yezoensis. Pit-connections of Porphyra were also clearly demonstrated. Prophase chromosomes of conchocelis cells were also clearly stained with modified carbol fuchsin. One molar per liter hydrochloric hydrolysis at 60℃ for 7-8min is necessary for getting transparent cytoplasm for conchosporangial karyotype analysis of Porphyra. Staining effects of the three methods using iron alum acetocarmine, aceto-iron-haematoxylin-chloral hydrate and modified carbol fuchsin were compared on the vegetative, sperrnatangial and conchosporangial cells of Porphyra and the gametophytes of U. pinnati-fida and L. japonica. Among the three methods, the modified carbol fuchsin method gave the best result of deep staining and good contrast between nucleus and cytoplasm.

  14. Geometric correction of deformed chromosomes for automatic Karyotyping.

    Science.gov (United States)

    Khan, Shadab; DSouza, Alisha; Sanches, João; Ventura, Rodrigo

    2012-01-01

    Automatic Karyotyping is the process of classifying chromosomes from an unordered karyogram into their respective classes to create an ordered karyogram. Automatic karyotyping algorithms typically perform geometrical correction of deformed chromosomes for feature extraction; these features are used by classifier algorithms for classifying the chromosomes. Karyograms of bone marrow cells are known to have poor image quality. An example of such karyograms is the Lisbon-K(1) (LK(1)) dataset that is used in our work. Thus, to correct the geometrical deformation of chromosomes from LK(1), a robust method to obtain the medial axis of the chromosome was necessary. To address this problem, we developed an algorithm that uses the seed points to make a primary prediction. Subsequently, the algorithm computes the distance of boundary from the predicted point, and the gradients at algorithm-specified points on the boundary to compute two auxiliary predictions. Primary prediction is then corrected using auxiliary predictions, and a final prediction is obtained to be included in the seed region. A medial axis is obtained this way, which is further used for geometrical correction of the chromosomes. This algorithm was found capable of correcting geometrical deformations in even highly distorted chromosomes with forked ends.

  15. 胎儿脐血染色体产前诊断临床分析336例%Clinical Analysis of 336 Cases of Prenatal Diagnosis of Fetal Chromosomal Karyotypes of Cording Blood

    Institute of Scientific and Technical Information of China (English)

    何德钦; 徐两蒲; 李英; 林娜; 刘合焜; 林元

    2011-01-01

    目的 探讨妊娠中晚期产前诊断的指征、染色体异常的常见类型及脐血管穿刺术在产前诊断中的应用.方法 收集有产前诊断指征的妊娠中晚期孕妇336例,抽取脐血,检查胎儿染色体核型,分析异常核型类别及其与产前诊断指征的关系.结果 发现异常核型48例(14.3%),其中染色体三体30例(62.5%),包括21三体8例,18三体12例,13三体8例,22三体2例.多发性畸形组染色体三体检出率26.7%(24/90).结论 胎儿发育异常为妊娠中晚期脐血产前诊断的主要指征;染色体三体是该时期的主要异常核型;脐血管穿刺术是妊娠中晚期胎儿染色体产前诊断的主要方法.%Objective To investigate the indications of prenatal diagnosis, common types of the abnormal karyotypes during the second and third trimesters, and to assess the effectiveness of cordocente-sis in the prenatal diagnosis. Methods Cordocentesis -were performed on 336 pregnant women -with different indications of prenatal diagnosis during their 18 to 36 gestational weeks. Fetal chromosomal karyotypes were also examined, and analysed relations between abnormal karyotype and the indications of prenatal diagnosis. Results 48 chromosomal abnormalities (14. 3%) -were detected. Trisomy, the main abnormality, accounted for 62. 5% (30/48) of all abnormalities; there -were 12 -with trisomy 18,8 -with trisomy 21 , 8 with trisomy 13, and 2 with trisomy 22. The highest trisomy chromosomal aberration rate (26. 7%) was detected in the fetuses with multiple abnormalities and minor fetus anatomical abnormalities significantly increase the detectable rate of trisomy 21. Conclusion Fetal abnormalities -were the main indications for prenatal diagnosis. Trisomy is the main type of chromosomal karyotype malformation during the second and third trimesters of pregnancy, and cordocentesis is an important technique for prenatal diagnosis during this period. Ultrasonographic prenatal screening offers access to find

  16. Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

    Directory of Open Access Journals (Sweden)

    Docherty Zoe

    2010-04-01

    Full Text Available Abstract Background Several studies have demonstrated that array comparative genomic hybridisation (CGH for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyotyping by G-banded chromosome analysis. The purpose of this study was to demonstrate the feasibility of and strategies for, the use of array CGH in place of karyotyping for genome imbalance, and to report on the results of the implementation of this approach. Results Following a validation period, an oligoarray platform was chosen. In order to minimise costs and increase efficiency, a patient/patient hybridisation strategy was used, and analysis criteria were set to optimise detection of pathogenic imbalance. A customised database application with direct links to a number of online resources was developed to allow efficient management and tracking of patient samples and facilitate interpretation of results. Following introduction into our routine diagnostic service for patients with suspected genome imbalance, array CGH as a follow-on test for patients with normal karyotypes (n = 1245 and as a first-line test (n = 1169 gave imbalance detection rates of 26% and 22% respectively (excluding common, benign variants. At least 89% of the abnormalities detected by first line testing would not have been detected by standard karyotype analysis. The average reporting time for first-line tests was 25 days from receipt of sample. Conclusions Array CGH can be used in a diagnostic service setting in place of G-banded chromosome analysis, providing a more comprehensive and objective test for patients with suspected genome imbalance. The increase in consumable costs can be minimised by employing appropriate hybridisation strategies; the use of robotics and a customised database application to process multiple samples reduces staffing costs and streamlines analysis, interpretation and reporting of results. Array CGH provides a

  17. Chromosome karyotype analysis of 1341 amniotic fluid samples%1341例羊水细胞染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    黄郁晶; 王岳平

    2013-01-01

    目的 探讨羊水细胞培养染色体核型分析技术在细胞遗传学产前诊断中的应用及意义.方法 1341例妊娠17~28周的孕妇在超声引导下行羊膜腔穿刺术,进行细胞培养及染色体核型分析.结果 1341例标本一次培养成功1330例,培养成功率为99.2%.共检出异常核型90例,异常率为6.8%,其中21-三体24例,18-三体7例,其他异常核型59例.结论 羊水细胞学检查作为一项产前诊断技术对于指导优生优育,降低缺陷儿的出生具有重要意义.%Objective:To investigate the significance of chromosome karyotype analysis of amniotic fluid cells in prenatal diagnosis.Methods:Amniocentesis by guided B-ultrasound was performed on 1341 cases of pregnant women.Chromosome karyotypes from amniotic fluid samples were then analyzed.Results:1330 cells were cultured successfully,and the success rate of primary culture was 99.2%.90 abnormal karyotypes were detected,including 24 21-trisomes,7 18-trisomes.Conclusion:Chromosome karyotype analysis of amniotic fluid cells has great significance in prenatal diagnosis.

  18. Electrophoretic karyotype polymorphism of sibling species of the Paramecium aurelia complex.

    Science.gov (United States)

    Nekrasova, Irina V; Przyboś, Ewa; Rautian, Maria S; Potekhin, Alexey A

    2010-01-01

    Variability of karyotypes is one of the main mechanisms of speciation in organisms. Electrophoretic karyotypes of the macronucleus (MAC) obtained by pulsed-field gel electrophoresis were compared for 86 strains of all 15 sibling species of the Paramecium aurelia complex in order to determine if karyotype differences corresponded to biological species boundaries. Because the electrophoretic karyotype of the MAC reflects indirectly the frequency and distribution of fragmentation sites in the micronuclear (MIC) chromosomes, any change in MAC electrophoretic karyotype may be a marker of certain chromosomal mutations in the MIC. Thirteen main variants of electrophoretic MAC karyotypes were observed in this species complex. Ten of them appeared to correspond to biological species, while the three other variants characterized several species each. Intraspecific polymorphism was observed for several species: in some cases a certain variant of MAC karyotype was specific for all strains from the same part of the world. Distribution of the MAC karyotype variants along molecular phylogenetic trees of the P. aurelia complex shows that isolation of each species or group of species of this complex was accompanied by divergence in the molecular organization of the genome.

  19. Nuchal translucency: an ultrasound marker for fetal chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Gregório Lorenzo Acácio

    2001-01-01

    Full Text Available CONTEXT: The literature shows an association between several ultrasound markers and chromosome abnormality. Among these, measurement of nuchal translucency has been indicated as a screening method for aneuploidy. The trisomy of chromosome 21 has been most evaluated. OBJECTIVE: To define the best fixed cutoff point for nuchal translucency, with the assistance of the ROC curve, and its accuracy in screening all fetal aneuploidy and trisomy 21 in a South American population. TYPE OF STUDY: Validation of a diagnostic test. SETTING: This study was carried out at the State University of Campinas, Campinas, Brazil. PARTICIPANTS: 230 patients examined by ultrasound at two tertiary-level private centers, at 10 to 14 weeks of gestation. DIAGNOSTIC TEST: The participants consisted of all those patients who had undergone ultrasound imaging at 10 to 14 weeks of gestation to measure nuchal translucency and who had had the fetal or neonatal karyotype identified. MAIN MEASUREMENTS: Maternal age, gestational age, nuchal translucency measurement, fetal or neonatal karyotype. RESULTS: Prevalence of chromosomal defects -- 10%; mean age -- 35.8 years; mean gestational age -- 12 weeks and 2 days; nuchal translucency (NT thickness -- 2.18 mm. The best balance between sensitivity and specificity were values that were equal to or higher than 2.5 mm for overall chromosomal abnormalities as well as for the isolated trisomy 21. The sensitivity for overall chromosomal abnormalities and trisomy 21 were 69.5% and 75%, respectively, and the positive likelihood ratios were 5.5 and 5.0, respectively. CONCLUSION: The measurement of nuchal translucency was found to be fairly accurate as an ultrasound marker for fetal abnormalities and measurements equal to or higher than 2.5 mm were the best fixed cutoff points.

  20. Normal karyotype mosaicism in adult AML patients with adverse-risk and undefined karyotype: preliminary report of treatment outcomes after hematopoietic stem cell transplantation.

    Science.gov (United States)

    Yoon, Jae-Ho; Kim, Hee-Je; Shin, Seung-Hwan; Yahng, Seung-Ah; Cho, Byung-Sik; Eom, Ki-Seong; Kim, Yoo-Jin; Lee, Seok; Min, Chang-Ki; Cho, Seok-Goo; Kim, Dong-Wook; Lee, Jong-Wook; Min, Woo-Sung; Park, Chong-Won

    2013-06-01

    Karyotype analysis in acute myeloid leukemia (AML) is one of the powerful prognostic factors for complete remission (CR), relapse, and overall survival (OS). Cytogenetic mosaicism is considered to be one of the important characteristics in expression of phenotypic manifestations. However, it has not come into focus due to emerging molecular biological approaches and the results of a number of mutation studies. Clinical correlates and prognostic relevance of mosaicism were evaluated in 163 AML patients [adverse-risk karyotypes (n = 72) and undefined karyotypes (n = 91)]. All patients were treated by induction and consolidation chemotherapies and finally went on hematopoietic stem cell transplantations (HSCT). Patients were divided into two subgroups, either with or without normal karyotype (NK) mosaicism. Seventy patients exhibited NK mosaicism and 93 did not. There were no significant differences in age, gender, chemotherapy cycles to achieve CR, HSCT donor type, source or intensity properties between the two subgroups. We found that NK mosaicism remaining in adverse-risk and undefined karyotype at diagnosis significantly correlates with better OS (p = 0.001) and lower CIR (p = 0.021) rate after HSCT. Our data show that the poor prognostic properties of unfavorable risk karyotype can be overcome to a great extent by allogeneic HSCT and chronic GVHD, especially in the subgroup with NK mosaicism. Cytogenetic mosaicism at initial diagnosis can be an influential factor for survival outcomes, even after HSCT.

  1. Karyotyping human and mouse cells using probes from single-sorted chromosomes and open source software.

    Science.gov (United States)

    Potapova, Tamara A; Unruh, Jay R; Box, Andrew C; Bradford, William D; Seidel, Christopher W; Slaughter, Brian D; Sivagnanam, Shamilene; Wu, Yuping; Li, Rong

    2015-12-01

    Multispectral karyotyping analyzes all chromosomes in a single cell by labeling them with chromosome-specific probes conjugated to unique combinations of fluorophores. Currently available multispectral karyotyping systems require the purchase of specialized equipment and reagents. However, conventional laser scanning confocal microscopes that are capable of separating multiple overlapping emission spectra through spectral imaging and linear unmixing can be utilized for classifying chromosomes painted with multicolor probes. Here, we generated multicolor chromosome paints from single-sorted human and mouse chromosomes and developed the Karyotype Identification via Spectral Separation (KISS) analysis package, a set of freely available open source ImageJ tools for spectral unmixing and karyotyping. Chromosome spreads painted with our multispectral probe sets can be imaged on widely available spectral laser scanning confocal microscopes and analyzed using our ImageJ tools. Together, our probes and software enable academic labs with access to a laser-scanning spectral microscope to perform multicolor karyotyping in a cost-effective manner.

  2. Acquired cutis laxa

    Directory of Open Access Journals (Sweden)

    Musaliar S

    2003-03-01

    Full Text Available A 13-yeat-old male patient born of non consanguineous marriage with history of recurrent urticaria and angioedema for the past 2 years presented with wrinkling and laxity of the skin over the face, axilla and abdomen. Histopathology was consistent with cutis laxa. We are reporting a rare case of acquired cutis laxa due to recurrent urticaria.

  3. Acquired cutis laxa

    Directory of Open Access Journals (Sweden)

    Musaliar S

    2003-01-01

    Full Text Available A 13-yeat-old male patient born of non consanguineous marriage with history of recurrent urticaria and angioedema for the past 2 years presented with wrinkling and laxity of the skin over the face, axilla and abdomen. Histopathology was consistent with cutis laxa. We are reporting a rare case of acquired cutis laxa due to recurrent urticaria.

  4. Hereditary urea cycle abnormality

    Science.gov (United States)

    ... vitro so the specific genetic cause is known. Teamwork between parents, the affected child, and doctors can help prevent severe illness. Alternative Names Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality Images Male urinary system Urea cycle References Lichter-Konecki ...

  5. Inherited or acquired metabolic disorders.

    Science.gov (United States)

    Eichler, Florian; Ratai, Eva; Carroll, Jason J; Masdeu, Joseph C

    2016-01-01

    This chapter starts with a description of imaging of inherited metabolic disorders, followed by a discussion on imaging of acquired toxic-metabolic disorders of the adult brain. Neuroimaging is crucial for the diagnosis and management of a number of inherited metabolic disorders. Among these, inherited white-matter disorders commonly affect both the nervous system and endocrine organs. Magnetic resonance imaging (MRI) has enabled new classifications of these disorders that have greatly enhanced both our diagnostic ability and our understanding of these complex disorders. Beyond the classic leukodystrophies, we are increasingly recognizing new hereditary leukoencephalopathies such as the hypomyelinating disorders. Conventional imaging can be unrevealing in some metabolic disorders, but proton magnetic resonance spectroscopy (MRS) may be able to directly visualize the metabolic abnormality in certain disorders. Hence, neuroimaging can enhance our understanding of pathogenesis, even in the absence of a pathologic specimen. This review aims to present pathognomonic brain MRI lesion patterns, the diagnostic capacity of proton MRS, and information from clinical and laboratory testing that can aid diagnosis. We demonstrate that applying an advanced neuroimaging approach enhances current diagnostics and management. Additional information on inherited and metabolic disorders of the brain can be found in Chapter 63 in the second volume of this series.

  6. Mouse Karyotype Obtained by Combining DAPI Staining with Image Analysis

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    In this study, mitotic metaphase chromosomes in mouse were identified by a new chromosome fluorescence banding technique combining DAPI staining with image analysis. Clear 4', 6-diamidino-2-phenylindole (DAPI) multiple bands like G-bands could be produced in mouse. The MetaMorph software was then used to generate linescans of pixel intensity for the banded chromosomes from short arm to long arm. These linescans were sufficient not only to identify each individual chromosome but also analyze the physical sites of bands in chromosome. Based on the results, the clear and accurate karyotype of mouse metaphase chromosomes was established. The technique is therefore considered to be a new method for cytological studies of mouse.

  7. The karyotype of Cathorops sp, a marine catfish from Brazil

    Directory of Open Access Journals (Sweden)

    Vicente Gomes

    1992-01-01

    Full Text Available Cathorops sp has the diploid number of 54 chromosomes. The karyotype comprises lm + sm, 6m, 6sm and 14st pairs. This result is compared with those of other species of Ariidae, mainly Ariopsis felis and Arius dussumieri, found in literature.Foram realizados estudos cromossômicos em 25 espécimens de Cathorops sp pelo método de air-drying. O número modal diplóide encontrado foi de 54 cromossomos sendo 1 par m + sm, 6 pares m, 6 pares sm e 14 pares st. Os resultados são comparados com dados da literatura referentes a cromossomos de outros ariídeos, principalmente de Ariopsis felis e Arius dussumieri.

  8. Genomic and karyotypic variation in Drosophila parasitoids (Hymenoptera, Cynipoidea, Figitidae

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    Vladimir Gokhman

    2011-08-01

    Full Text Available Drosophila melanogaster Meigen, 1830 has served as a model insect for over a century. Sequencing of the 11 additional Drosophila Fallen, 1823 species marks substantial progress in comparative genomics of this genus. By comparison, practically nothing is known about the genome size or genome sequences of parasitic wasps of Drosophila. Here, we present the first comparative analysis of genome size and karyotype structures of Drosophila parasitoids of the Leptopilina Förster, 1869 and Ganaspis Förster, 1869 species. The gametic genome size of Ganaspis xanthopoda (Ashmead, 1896 is larger than those of the three Leptopilina species studied. The genome sizes of all parasitic wasps studied here are also larger than those known for all Drosophila species. Surprisingly, genome sizes of these Drosophila parasitoids exceed the average value known for all previously studied Hymenoptera. The haploid chromosome number of both Leptopilina heterotoma (Thomson, 1862 and L. victoriae Nordlander, 1980 is ten. A chromosomal fusion appears to have produced a distinct karyotype for L. boulardi (Barbotin, Carton et Keiner-Pillault, 1979 (n = 9, whose genome size is smaller than that of wasps of the L. heterotoma clade. Like L. boulardi, the haploid chromosome number for G. xanthopoda is also nine. Our studies reveal a positive, but non linear, correlation between the genome size and total chromosome length in Drosophila parasitoids. These Drosophila parasitoids differ widely in their host range, and utilize different infection strategies to overcome host defense. Their comparative genomics, in relation to their exceptionally well-characterized hosts, will prove to be valuable for understanding the molecular basis of the host-parasite arms race and how such mechanisms shape the genetic structures of insect communities.

  9. Effectiveness of Increased Nuchal Translucency in Detecting Pregnancies at Risk for Chromosomal Abnormalities

    Directory of Open Access Journals (Sweden)

    Lorna González Herrera

    2014-02-01

    Full Text Available Background: assessment of embryonic anatomy by ultrasound since early ages leads to the detection of pregnancies at risk for chromosomal abnormalities. Advanced maternal age alone is not enough. Objective: to assess the results of the nuchal translucency measurement at the first trimester ultrasound as a sonographic marker of chromosomal abnormalities.Methods: a sample of 29 334 pregnant women was studied from September 2006 to December 2010. General performance of the sonographic marker was assessed taking into account the years and maternal age. Effectiveness of increased nuchal translucency in the indirect detection of chromosomal abnormalities was determined using the common parameters. Results: the net number of increased nuchal translucencies diminished over the years, as well as the absolute amount of prenatal karyotypes performed; but its proportion increased along with the positive prenatal karyotypes among women with increased nuchal translucency. Among the 71 fetuses with increased translucency, seven cases of chromosomal abnormalities were confirmed by other elements of the prenatal program. The sensitivity of the isolated nuchal translucency was 14.6%; specificity was high (99.8%; positive and negative predictive values were 18.4% and 99.9%, respectively. Rates of false positives were very low. Conclusions: high specificity reaffirms nuchal translucency as a good early marker of risk for chromosomal abnormalities, particularly Down syndrome and Trisomy 18, with a minimum rate of indications for invasive testing and an extra increase in the detection of fetal defects.

  10. Acquired methemoglobinemia in infants

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    Mehmet Mutlu

    2011-06-01

    Full Text Available Objective: This study aimed to determine the etiologic factors of acquired methemoglobinemia in infants younger than three months in our region. Material and Methods: This study was carried out retrospectively in infants with methemoglobinemia admitted to Karadeniz Technical University, Pediatric Clinic, during the period 2000-2009. Infants with methemoglobinemia were identified according to the medical records or ICD-10 code. Results: Nine infants with acquired methemoglobinemia (8 male, 1 female were included in the study. Seven cases were associated with the use of prilocaine for circumcision, one case with the use of prilocaine-lidocaine for local pain therapy, and one case with neonatal sepsis caused by Staphylococcus aureus.Conclusion: Prilocaine should not be used in infants less than three months of age because of the risk of methemoglobinemia. Ascorbic acid is an effective therapy if methylene blue is not obtained. It should not be forgotten that sepsis caused by S. aureus may cause methemoglobinemia in infants.

  11. Acquired hypertrichosis lanuginosa

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    Kumar Pramod

    1993-01-01

    Full Text Available Acquired hypertirichosis lanuginose developed rapidly in a patient with no detectable malignancy. Soft, fine, downy hair growth was noticed on the face, ears, limbs and trunk. Bilaterally symmetrical vitiliginous macules were present on the ear and preauricular region. This case is reported because of its rarity, absence of any detectable malignancy and development of vitiligo, which to our knowledge has not been reported earlier.

  12. Pathology of thyroid in acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    Dhaneshwar Namdeorao Lanjewar

    2016-01-01

    Full Text Available Background: The course of human immunodeficiency virus infection and the acquired immunodeficiency syndrome can be complicated by a variety of endocrine abnormalities, including abnormalities of thyroid gland. Materials and Methods: This study was designed to understand the spectrum of pathology of thyroid in Indian patients with AIDS. The present study describes the findings of retrospective autopsy findings of 158 patients with AIDS which revealed infectious diseases from a time period before the use of highly active antiretroviral regimen. Results: A wide range of bacterial, fungal, and viral infections were observed. Tuberculosis was recorded in 14 (09% patients, Cryptococcus neoformans in 11 (7% patients and cytomegalovirus in 3 (2% patients. Hashimoto's thyroiditis and lymphocytic thyroiditis were seen in 02 (01% patients each. One patient had dual infection comprising of tuberculosis and cytomegalovirus infection. The other microscopic findings observed were goiter (2 patients, interstitial fibrosis in thyroid (7 patients, and calcification in thyroid (8 patients. Conclusions: Abnormalities of thyroid are uncommon findings in patients with HIV infection however several case reports of thyroid involvement by infectious agents and neoplasm are described in these patients; hence patients with HIV infection should be closely followed up for development of goiter or abnormalities of thyroid functions.

  13. Multiple myeloma associated with acquired cutis laxa.

    Science.gov (United States)

    Cho, S Y; Maguire, R F

    1980-08-01

    Acquired cutis laxa is a rare disorder characterized by diffuse laxity of the skin and loss of connective tissue support with involvement of the lungs, gastrointestinal tract, pelvic organs, and aorta. The case report presented herein describes a forty-six year old woman with multiple myeloma and cutis laxa. Her history included several severe allergic reactions and the gradual development of lax skin, loss of connective tissue support throughout the body, and emphysema. At autopsy, multiple myeloma, diffuse laxity of the skin, and panacinar emphysema were found. The amount of elastic fiber in the skin, lungs, and aorta was decreased and showed abnormal fragmentation. Results of direct immunofluorescence study demonstrated IgG bound to dermal elastic fibers. Speculation regarding an immunologic etiology of the elastic tissue abnormality is presented herein.

  14. Single-nucleotide polymorphism array-based karyotyping of acute promyelocytic leukemia.

    Directory of Open Access Journals (Sweden)

    Inés Gómez-Seguí

    Full Text Available Acute promyelocytic leukemia (APL is characterized by the t(15;17(q22;q21, but additional chromosomal abnormalities (ACA and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A 6.0 (Affymetrix in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%: 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH, being a duplication of 8(q24 (23% and a deletion of 7(q33-qter (6% the most frequent copy-number abnormalities (CNA. Four patients (8% showed CNAs adjacent to the breakpoints of the translocation. We compared our results with other APL series and found that, except for dup(8q24 and del(7q33-qter, ACA were infrequent (≤3% but most of them recurrent (70%. Interestingly, having CNA or FLT3 mutation were mutually exclusive events. Neither the number of CNA, nor any specific CNA was associated significantly with prognosis. This study has delineated recurrent abnormalities in addition to t(15;17 that may act as secondary events and could explain leukemogenesis in up to 40% of APL cases with no ACA by conventional cytogenetics.

  15. Genome downsizing and karyotype constancy in diploid and polyploid congeners: a model of genome size variation.

    Science.gov (United States)

    Poggio, Lidia; Realini, María Florencia; Fourastié, María Florencia; García, Ana María; González, Graciela Esther

    2014-06-26

    Evolutionary chromosome change involves significant variation in DNA amount in diploids and genome downsizing in polyploids. Genome size and karyotype parameters of Hippeastrum species with different ploidy level were analysed. In Hippeastrum, polyploid species show less DNA content per basic genome than diploid species. The rate of variation is lower at higher ploidy levels. All the species have a basic number x = 11 and bimodal karyotypes. The basic karyotypes consist of four short metacentric chromosomes and seven large chromosomes (submetacentric and subtelocentric). The bimodal karyotype is preserved maintaining the relative proportions of members of the haploid chromosome set, even in the presence of genome downsizing. The constancy of the karyotype is maintained because changes in DNA amount are proportional to the length of the whole-chromosome complement and vary independently in the long and short sets of chromosomes. This karyotype constancy in taxa of Hippeastrum with different genome size and ploidy level indicates that the distribution of extra DNA within the complement is not at random and suggests the presence of mechanisms selecting for constancy, or against changes, in karyotype morphology.

  16. Karyotype similarity between two sympatric Schizodon fish species (Anostomidae, Characiformes from the Paraguay River basin

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    Martins Cesar

    1998-01-01

    Full Text Available Fish of the neotropical family Anostomidae generally show low karyotype variability. Nevertheless, karyotype variants have been identified within some genera, providing information about their evolutionary history. Species of the genus Schizodon show a high degree of morphological and ecological similarity compared to other anostomids. In the present study, karyotype characteristics of Schizodon borelli (40 individuals and S. isognathum (one individual, two sympatric species found in the Paraguay River basin, were studied. C-banding, GC-specific fluorochrome Mitramycin (MM and Ag staining as well as in situ hybridization (FISH with rDNA probes were used. The karyotypes of these species were found to be very similar. Only two NORs were detected in a common chromosome pair of both species under Ag, MM and FISH treatments. Similar heterochromatin distribution patterns were also observed. A parallelism between the small karyotype variation and low morphological and ecological divergence observed for this genus is discussed. Their karyotype homogeneity might be related to populational features or, alternatively, might indicate that the maintenance of a symmetric and conserved karyotype structure represents optimal genomic organization among these fish.

  17. Acquired plate-like osteoma cutis.

    Science.gov (United States)

    Vashi, Neelam; Chu, Julie; Patel, Rishi

    2011-10-15

    Plate-like osteoma cutis is a rare disorder that has been historically classified as a congenital syndrome. It has a possible relationship to a mutation in the gene (GNAS1) that encodes the α-subunit of the stimulatory G protein, which regulates adenyl cyclase activity. We report a case of extensive plaque-like masses on the scalp and face with no abnormalities in calcium or phosphate metabolism and no preceding inflammatory cutaneous conditions. With less than ten reported cases, to our knowledge, this is one the few cases of acquired plate-like osteoma cutis described in the literature.

  18. Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency.

    Science.gov (United States)

    Geckinli, B B; Toksoy, G; Sayar, C; Soylemez, M A; Yesil, G; Aydın, H; Karaman, A; Devranoglu, B

    2014-11-01

    Our objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian insufficiency (POI). A retrospective study was performed using medical records of 94 patients with PA and 81 patients with POI at the Genetics Department, Zeynep Kamil Women's and Children's Research and Training Hospital, Istanbul, Turkey. G-banded metaphase karyotype analysis were prepared and analyzed. Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 10 were full blown or mosaic X-chromosome structural anomalies (5.7%), one was X-autosome translocation (0.5%), 3 were autosomal anomalies (1.7%), 12 were XY karyotype (6.8%), one was 45,X/46,XY mosaic and 2 were full blown or mosaic structural anomalies of Y chromosome (1.7%). The prevalence of chromosomal abnormalities was 25% in this large series of Turkish women with primary amenorrhea or premature ovarian insufficiency, most cases involving X-aneuploidy or X-structural abnormalities or 46,XY karyotype. High prevalence of chromosomal abnormalities is associated with POI starting at an early age (average age: 26 years).

  19. "Jeopardy" in Abnormal Psychology.

    Science.gov (United States)

    Keutzer, Carolin S.

    1993-01-01

    Describes the use of the board game, Jeopardy, in a college level abnormal psychology course. Finds increased student interaction and improved application of information. Reports generally favorable student evaluation of the technique. (CFR)

  20. Chromosomal Abnormalities in ADHD

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    J Gordon Millichap

    2002-07-01

    Full Text Available The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS, and other cytogenetic abnormalities among 100 children (64 boys with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.

  1. Abnormal menstrual periods (image)

    Science.gov (United States)

    ... may have a variety of causes, such as endometrial hyperplasia, endometrial polyps, uterine fibroids, and abnormal thyroid or ... the endometrium becomes unusually thick it is called endometrial ... Hyperplasia may cause profuse or extended menstrual bleeding.

  2. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  3. Abnormal protein aggregationand neurodegenerativediseases

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Abnormal protein aggregation or amyloid is the major cause ofmany neurodegenerative disorders. The present review focuses on the correlation between sequence and structure features of proteins related to the diseases and abnormal protein aggregation. Recent progress has improved our knowledge on understand-ing the mechanism of amyloid formation. We suggest a nucleation model for ordered protein aggregation, which can also explain pathogenesis mechanisms of these neurodegenerative diseases in vivo.

  4. Acquired hyperostosis syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Dihlmann, W.; Hering, L.; Bargon, G.W.

    1988-10-01

    Sterno-costo-clavicular hyperostosis (SCCH) is the most common manifestation of a syndrome, consisting of increased bone metabolism, mostly new bone formation and heterotopic ossification of fibrous tissue, which we have characterised as the acquired hyperostosis syndrome. In part I we discuss the terminology, radiological appearances, scintigraphy, clinical and laboratory findings, bacteriology, histology, nosology, complications, treatment and differential diagnosis of SCCH. Chronic recurrent multifocal osteomyelitis (CRMO) is regarded as a phaenotype of SCCH, depending on the age. CRMO occurs in children, adolescents and young adults, SCCH predominantly in middleaged and elderly adults.

  5. "Ready to Acquire"

    DEFF Research Database (Denmark)

    Yetton, Philip; Henningsson, Stefan; Bjørn-Andersen, Niels

    2013-01-01

    This article describes the experiences of Danisco (a global food ingredients company) as it followed a growth-by-acquisition business strategy, focusing on how a new CIO built the IT resources to ensure the IT organization was "ready to acquire." We illustrate how these IT capabilities expedited...... the IT integration following two acquisitions, one of which involved Danisco expanding the scale of its business and the other extending the scope. Based on insights gained from Danisco, we provide lessons for CIOs to realize business benefits when managing post-acquisition IT integration....

  6. Salivary abnormalities in Prader-Willi Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hart, S.; Poshva, C. [Bowman Gray School of Medicine, Winston-Salem, NC (United States)

    1994-09-01

    Although abnormal saliva is a well documented finding in PWS, little is known about the saliva in these individuals. We have recently undertaken a study to characterize the salivary composition from PW patients and to see if there is any correlation with their underlying molecular diagnosis (deletion vs. disomy). We have collected whole saliva on 3 patients; 2 had normal high-resolution karyotype analysis (Cases 1 & 3) and 1 had a deletion of 15q11q13 (Case 3). For all parameters, Case 3`s values were notably different from those of his unaffected sibling. The salivary flow rates and concentrations for all 3 PW patients are similar and are significantly different from normal controls (mean {plus_minus} SE) (p<0.05). Although this data is from only 3 PW patients, it provides valuable information. First, decreased flow appears to be due to an effect of PWS and not medications since Cases 2 & 3 are not on any medications. Second, decreased flow appears to be present in younger as well as older individuals. Third, deviations from normal in the salivary composition are evident. It is possible that these alterations are concentration effects relative to a decrease in flow rate. We are currently obtaining saliva from more PW individuals to see if these alterations are present in all PW patients and whether they can be applied as a screening test.

  7. Association of MTHFR Polymorphisms and Chromosomal Abnormalities in Leukemia

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    Thivaratana Sinthuwiwat

    2012-01-01

    Full Text Available Genetic variation in MTHFR gene might explain the interindividual differences in the reduction of DNA repaired and the increase of chromosome breakage and damage. Nowadays, chromosomal rearrangement is recognized as a major cause of lymphoid malignancies. In addition, the association of MTHFR polymorphisms with aneuploidy was found in several studies, making the MTHFR gene as a good candidate for leukemia etiology. Therefore, in this study, we investigated the common sequence variation, 677C>T and 1298A>C in the MTHFR gene of 350 fixed cell specimens archived after chromosome analysis. The distribution of the MTHFR polymorphisms frequency was compared in leukemic patients with structural chromosome abnormality and chromosome aneuploidy, as well as in those with no evidence of chromosome abnormalities. We observed a significant decrease in the distribution of T allele in 677C>T polymorphisms among patients with chromosomal abnormalities including both structural aberration and aneuploidy. The same significance result also found in patients with structural aberration when compare with the normal karyotype patients. Suggesting that polymorphism in the MTHFR gene was involved in chromosome abnormalities of leukemia. However, further investigation on the correlation with the specific types of chromosomal aberrations is needed.

  8. Analysis of 1500 cases of children with intellectual disability karyotype%1500例智力障碍儿童染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    李瑞; 赵鼎; 许哲

    2014-01-01

    目的 探讨1 500例智力障碍儿童染色体的核型分析.方法 常规外周血淋巴细胞培养,制备染色体,采用G显带技术对染色体进行核型分析.结果 1 500例中共发现染色体正常(320条~550条带阶段未见染色体异常)534例,染色体异常966例,占全部受检病例的64.4% (966/1 500),其中各种类型的21三体综合征(Down综合征)884例,占染 色体异常核型的91.5% (884/966).其余异常核型分别涉及到X、Y、1、2、3、5、6、7、8、9、10、12、13、14、15、16、17、18、20、21、22号染色体共82例.结论 染色体异常是引起儿童智力障碍的重要原因,而Down综合征又是染色体异常中最主要的原因,达91.5%.因此,做好产前筛查很有必要,可提高异常染色体的检出率,能够有效降低智力低下儿童的出生率,对于提高优生优育具有重要意义.%Objective To study the karyotype analysis of 1 500 cases chromosome of children with mental retardation intellectual disability.Methods The lymphocyte of periphery blood were cultured,chromosome were prepared and the karyotype of it was analyzed by the G-band technique.Results In 534 cases out of 1 500 cases chromosome was found normal(no abnormal chromosome in 320-550 band stage),966 cases of chromosomal abnormalities,accounted for 64.4% (966/1 500),in which various types of trisomy 21 syndrome (Down's syndrome) were 884 cases,accounting for 91.5% in the abnormal karyotype of chromosome(884/966).Other abnormal karyotype were related to the X,Y,2,3,5,6,7,8,9,10,12,13,14,15,16,17,18,20,21,22,a total of 82 cases of chromosome.Conclusion Chromosome abnormality is an important cause of mental retardation children,while Down's syndrome is the most common cause of abnormal chromosome,91.5%.Prenatal screening is very necessary,because it can improve the detection rate of chromosomal abnormalities effectively and reduce the birth rate of children with mental retardation and will be significant

  9. 64例Turner综合征的染色体核型与临床分析%Karyotype and clinical analysis in sixty-four cases of Turner syndrome

    Institute of Scientific and Technical Information of China (English)

    李远眺; 李勇

    2013-01-01

    Objective To analyze karyotype and clinical characteristic features of Turner syndrome.Methods Prospective genetic counseling and cytogenetic analysis was performed.Results In sixty-four patients with Turner syndrome,karyotype could be divided into five major categories,namely simple type,chimeric,X chromosome structural abnormalities,X-trisomy and containing the Y chromosome.Abnormal karyotype was present in 27 of 64 patients with Turner syndrome(42%).Simple type was more prevalent among patients with Turner syndrome(36%).Conclusion The clinical characteristic features could include short stature, webbed neck,primary amenorrhea,gonadal dysgenesis and so on.The clinical manifestations of chimeras might depend on the proportion of abnormal karyotype with normal karyotype cell lines.Cases containing the Y chromosome could have sex abnormality mostly.%目的 分析Turner综合征的染色体核型与临床特征.方法 应用遗传咨询及染色体核型分析法.结果 64例资料中Turner综合征的异常染色体核型大约可分为5大类,分别是单体型、嵌合型、X染色体结构异常、X三体及含Y染色体核型,共检出27种异常核型,其中单体型比例最高约占36%.结论 Turner综合征以蹼颈、身材矮小、原发性闭经、性腺发育不全、第二性征不发育和婴幼儿手足背水肿为主要特征.嵌合体的临床表现取决于异常核型与正常核型细胞系的比例,含Y染色体的病例多有两性畸形,应及早施行预防性性腺切除术,以防恶变.

  10. Leuciscus (Pisces, Cyprinidae karyotypes: Transect of Portuguese populations

    Directory of Open Access Journals (Sweden)

    Maria João Collares-Pereira

    1998-03-01

    Full Text Available The presently described Iberian chubs - Leuciscus carolitertii and L. pyrenaicus - sampled throughout their distribution ranges in Portugal were cytogenetically analyzed. Their chromosome numbers were consistently 2n = 50, except for two specimens of L. carolitertii, which exhibited a supernumerary chromosome in some of the metaphases. The karyotypes were found to be highly typical for other Leuciscus taxa, as well as for European leuciscine cyprinids: the chromosome sets are dominated by metacentric and submetacentric elements with a reduced number of acrocentric pairs (three to four; the largest pair of the complements belongs typically to this latter category. The chubs from northern drainages, assignable to L. carolitertii, have apparently a more stable karyotype structure (12M:30S:8A than the chubs from L. pyrenaicus, which have 12M:32S:6A, but may exhibit in the most southern river basins (Guadiana, Mira, Aljezur, Bordeira and Arade more variable karyotypes. Besides, these data support the very recent discovery of two genetically distinct Leuciscus taxa in this region of the Iberian Peninsula, suggesting the stochastic fixation of structural chromosome rearrangements in these small and isolated drainages, which may be affected by bottlenecks due to significant variations in hydrological regimes. The NORs were apparently located in one small submetacentric pair of chromosomes and the presence of a heteromorphic sex chromosome system of the ZW/ZZ type was also evidenced for the Iberian endemic chubs.A análise citogenética dos dois endemismos de Leuciscus atualmente descritos na Península Ibérica foi efetuada em amostras obtidas ao longo da sua área de distribuição. Apresentaram um valor diplóide de 2n = 50, com exceção de dois exemplares de L. carolitertii, os quais exibiam um cromossomo supranumerário em algumas metáfases. Caracterizaram-se por um padrão cariológico idêntico ao dos restantes táxons do mesmo g

  11. Pathology of the thoracic wall: congenital and acquired

    Energy Technology Data Exchange (ETDEWEB)

    Garcia-Pena, Pilar; Barber, Ignasi [Hospital Materno-Infantil, Pediatric Radiology, Barcelona (Spain)

    2010-06-15

    This review aims to cover the main congenital and acquired lesions that arise in the thoracic wall of infants and children. Imaging often plays an essential role in the evaluation of symptomatic and asymptomatic thoracic wall abnormalities. The use of appropriate imaging modalities for each condition will be addressed, as well as the range of benign and malignant conditions that can occur. (orig.)

  12. Abnormal skull shape

    Energy Technology Data Exchange (ETDEWEB)

    Blaser, Susan I. [Hospital for Sick Children and University of Toronto, Department of Diagnostic Imaging, Division of Paediatric Neuroradiology, Toronto, ON (Canada)

    2008-06-15

    MRI may be required in cases at risk of acquired tonsillar herniation or central nervous system anomalies. Additional CT or MR venography or catheter angiography may be necessary to map anomalous or vigorous collateral venous drainage preoperatively. (orig.)

  13. Learning-by-Being-Acquired

    DEFF Research Database (Denmark)

    Colombo, Massimo Gaetano; Moreira, Solon; Rabbiosi, Larissa

    2016-01-01

    of new teams with both inventors of the acquiring and acquired firms-and assess the impact of this integration action in the period that immediately follows the acquisition. Drawing on social identity and self-categorization theories, we argue that R&D team reorganization increases the acquired inventors......’ use of the prior stock of technological knowledge of the acquiring firm after the acquisition. Furthermore, this effect is enhanced if the focal acquired inventor has high relative innovation ability but is weakened for acquired inventors with high ingroup collaborative strength. We construct a sample...

  14. Learning-By-Being-Acquired

    DEFF Research Database (Denmark)

    Colombo, Massimo G.; Moreira, Solon; Rabbiosi, Larissa

    In this paper we study post-acquisition integration in terms of R&D team reorganization—i.e., the creation of new teams with both inventors of the acquiring and acquired firms—and assess its impact on knowledge transfer in the period that follows the acquisition. Drawing on social identity and self......-categorization theories, we argue that R&D team reorganization increases the acquired inventors’ use of the prior stock of technological knowledge of the acquiring firm after the acquisition. Furthermore, this effect is enhanced if acquired inventors have higher innovation ability relative to their acquiring peers...

  15. Complex karyotype newly defined: The strongest prognostic factor in advanced childhood myelodysplastic syndrome

    NARCIS (Netherlands)

    G. Göhring (Gudrun); K. Michalova (Kyra); H.B. Beverloo (Berna); D. Betts (David); J. Harbott (Jochen); O.A. Haas (Oskar); G. Kerndrup (Gitte); L. Sainati (Laura); E. Bergstraesser (Eva); H. Hasle (Henrik); J. Stary (Jan); M. Trebo (Monica); M.M. van den Heuvel-Eibrink (Marry); M. Zecca (Marco); E.R. van Wering (Elisabeth); A. Fischer (Alexandra); P. Noellke (Peter); B. Strahm (Brigitte); F. Locatelli (Franco); C.M. Niemeyer (Charlotte); B. Schlegelberger (Brigitte)

    2010-01-01

    textabstractTo identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of 192 children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexit

  16. Karyotypes of two rare rodents, Hapalomys delacouri and Typhlomys cinereus (Mammalia, Rodentia), from Vietnam.

    Science.gov (United States)

    Abramov, Alexei V; Aniskin, Vladimir M; Rozhnov, Viatcheslav V

    2012-01-01

    Karyotypes of Hapalomys delacouri (Rodentia, Muridae) and Typhlomys cinereus (Rodentia, Platacanthomyidae) from Vietnam are described for the first time. The diploid karyotype of Hapalomys delacouri is 38 (NFa=48), consisting of six pairs of bi-armed and 12 pairs of acrocentric autosomes decreasing in size; plus a large metacentric X chromosome and Y chromosome, also metacentric, that is equal in size to the largest pair of acrocentric autosomes. The newly described karyotype differs significantly from that reported for Hapalomys delacouri from northern Thailand. The latter record very likely represents a different species of Hapalomys, possibly the taxon Hapalomys pasquieri described from north-central Laos.The diploid karyotype of Typhlomys cinereus is 38 (NF=48), consisting of five pairs of meta- to submetacentric and 14 pairs of acrocentric chromosomes varying in size from large to small; sex chromosomes were not defined.

  17. Karyotypes of two rare rodents, Hapalomys delacouri and Typhlomys cinereus (Mammalia, Rodentia, from Vietnam

    Directory of Open Access Journals (Sweden)

    Alexei Abramov

    2012-01-01

    Full Text Available Karyotypes of Hapalomys delacouri (Rodentia, Muridae and Typhlomys cinereus (Rodentia, Platacanthomyidae from Vietnam are described for the first time. The diploid karyotype of H. delacouri is 38 (NFa=48, consisting of six pairs of bi-armed and 12 pairs of acrocentric autosomes decreasing in size; plus a large metacentric X chromosome and Y chromosome, also metacentric, that is equal in size to the largest pair of acrocentric autosomes. The newly described karyotype differs significantly from that reported for H. delacouri from northern Thailand. The latter record very likely represents a different species of Hapalomys, possibly the taxon H. pasquieri described from north-central Laos. The diploid karyotype of Typhlomys cinereus is 38 (NF=48, consisting of five pairs of meta- to submetacentric and 14 pairs of acrocentric chromosomes varying in size from large to small; sex chromosomes were not defined.

  18. Chromosome Structural Alteration an Unusual Abnormality Characterizing Human Neoplasia

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    Abolfazl Movafagh

    2016-04-01

    Full Text Available Background and Aim: Ring chromosomes are rare cytogenetic abnormalities that occur in less than 10% of hematopoietic malignancies. They are rare in blood disorder. The present review has focused on the ring chromosome associated with oncology malignancies. Materials and Methods: By reviewing the web-based search for all English scientific peer review articles published, was initiated using Medline/PubMed, Mitelman database (http://cgap.nci.nih.gov/Chromosomes/Mitelman, and other pertinent references on websites about ring chromosomes in Oncology. The software program as End Note was used to handle the proper references for instruction to author. Karyotype descriptions were cited according to ISCN.Conclusion: Ring chromosomes are rare chromosomal aberrations, almost many times are of de novo origin, presenting a different phenotype regarding the loss of genetic material. The karyotype represents the main analysis for detection of ring chromosomes, but other molecular technics are necessary for complete characterization. The information of this review article adds to the spectrum of both morphology and genetic rearrangements in the field of oncology malignancies.

  19. Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan.

    Science.gov (United States)

    Liao, Hsiao-Mei; Gau, Susan Shur-Fen; Tsai, Wen-Che; Fang, Jye-Siung; Su, Ying-Cheng; Chou, Miao-Chun; Liu, Shih-Kai; Chou, Wen-Jiun; Wu, Yu-Yu; Chen, Chia-Hsiang

    2013-10-01

    Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA.

  20. The ancestral karyotype of Carnivora: comparison with that of platyrrhine monkeys.

    Science.gov (United States)

    Dutrillaux, B; Couturier, J

    1983-01-01

    The karyotypes of six species of Carnivora (Mungos mungo, Paradoxurus hermaphroditus, Potos flavus, Mustela furo, Felis serval, and Halichoerus grypus), representative of five different families, were studied and compared. Correspondence between almost all chromosome segments was found, and a presumed ancestral karyotype of Carnivora is proposed. Analogies to human chromosomes are also given, and the results obtained are in excellent agreement with previously published gene mapping data on man and the domestic cat.

  1. Karyotype description of five species of Trichomycterus (Teleostei: Siluriformes: Trichomycteridae

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    Sato Luciana Ramos

    2004-01-01

    Full Text Available Trichomycteridae is a family of small catfish which are widely distributed throughout Southern Central America and South America. The present study showed that the cis-Andean species Trichomycterus florensis, Trichomycterus sp. aff. Trichomycterus itatiyae, Trichomycterus reinhardti, Trichomycterus davisi and Trichomycterus auroguttatus had 2n = 54 chromosomes (42 metacentric, 10 submetacentric and 2 subtelocentric, with T. reinhardti, T. auroguttatus and T. sp. aff. T. itatiyae exhibiting only one chromosome pair with silver-stained nucleolus organizer regions (NORs. The cytogenetic data suggest the existence of at least two groups of species in the cis-Andean representatives of the genus Trichomycterus. In the first group the first metacentric pair is considerably larger than the second metacentric pair and the NORs occur in the pericentromeric position of the short arm of a large submetacentric pair while in the second group the first and second metacentric pairs are about the same size and larger than the other metacentric pairs and the NORs are located in the pericentromeric position of the long arm of a large metacentric pair. The relative conservatism of the karyotype of the cis-Andean Trichomycterus species contrasts with the wide diversification observed in the trans-Andean species, reinforcing the hypothesis that the genus is not monophyletic.

  2. Karyotypes of three species of marine catfishes from Brazil

    Directory of Open Access Journals (Sweden)

    Vicente Gomes

    1994-12-01

    Full Text Available The chromosomes of three species of fishes belonging to the family Ariidae -Netuma barba, Genidens genidens and Amis parkeri - were studied after conventional Giemsa staining. All three species have a diploid chromosome number of 2n = 56. The karyotype comprises 18 metacentric (m, 18 submetacentric (sm, 18 subtelocentric (st and 2 telocentric (t pairs for N. barba; 12 m, 20 sm, 20 st and 41 pairs for G. genidens; 16 m, 16 sm, 22 st and 21 pairs for A. parkeri. The results obtained from these three species are compared with each other and with those found in literature.Os cromossomos de 3 espécies de peixes da família Ariidae - Netuma barba, Genidens genidens e Arius parkeri - foram estudados após coloração convencional com Giemsa. As três espécies apresentaram número modal diplóide de 2n = 56. O cariótipo de N. barba compreende 18 pares de cromossomos metacentricos (m, 18 submetacêntricos (sm, 18 subtelocêntricos (st e 2 telocêntricos (t; o de G. genidens compreende 12 pares m, 20 sm, 20 st e 41; o de A.parkeri compreende 16 m, 16 sm, 22 st e 2 t. Os resultados obtidos são comparados entre si e com os de outros ariídeos encontrados na literatura.

  3. Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome.

    Science.gov (United States)

    Göhring, Gudrun; Michalova, Kyra; Beverloo, H Berna; Betts, David; Harbott, Jochen; Haas, Oskar A; Kerndrup, Gitte; Sainati, Laura; Bergstraesser, Eva; Hasle, Henrik; Stary, Jan; Trebo, Monika; van den Heuvel-Eibrink, Marry M; Zecca, Marco; van Wering, Elisabeth R; Fischer, Alexandra; Noellke, Peter; Strahm, Brigitte; Locatelli, Franco; Niemeyer, Charlotte M; Schlegelberger, Brigitte

    2010-11-11

    To identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of 192 children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexity. Structurally complex constitutes a new definition of complex karyotype characterized by more than or equal to 3 chromosomal aberrations, including at least one structural aberration. Five-year overall survival in patients with more than or equal to 3 clonal aberrations, which were not structurally complex, did not differ from that observed in patients with normal karyotype. Cox regression analysis revealed the presence of a monosomal and structurally complex karyotype to be strongly associated with poor prognosis (hazard ratio = 4.6, P < .01). Notably, a structurally complex karyotype without a monosomy was associated with a very short 2-year overall survival probability of only 14% (hazard ratio = 14.5; P < .01). The presence of a structurally complex karyotype was the strongest independent prognostic marker predicting poor outcome in children with advanced myelodysplastic syndrome.

  4. chromosome karyotype analysis of pregnant amniotic fluid in Qingdao area 1206 cases%青岛地区1206例孕妇羊水染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    姜楠; 俞冬熠; 韩美艳

    2012-01-01

    Objective: Evaluation of amniotic fluid cells karyotype analysis on second trimester of pregnant women at risk for prenatal diagnosis. Method: From 19 to 23 weeks of pregnancy in pregnant women at risk of amniocentesis and cell culture karyotype analysis. Result: Amniotic fluid cell culture success rate of 99. 9% , detection of chromosome abnormalities in 47 cases, including 23 cases of trisomy 21, 18 — trisomy 2 cases, 5 cases with sex chromosome abnormalities, trisomy 22 in 1 cases and other structural chromosomal abnormality in 16 cases. Conclusion; Pregnant amniotic fluid cell karyotype, can be safe and effective for fetal chromosome abnormalities for prenatal diagnosis, chromosome disease patients to reduce the birth has an important guiding significance.%目的 评价羊水细胞的染色体核型分析对妊娠中期的高危孕妇进行产前诊断的意义.方法 对妊娠19~ 23周的高危孕妇进行羊膜腔穿刺术并进行细胞培养染色体核型分析.结果 羊水细胞培养成功率99.9%,检出染色体异常47例,包括21-三体23例,18-三体2例,性染色体异常5例,22-三体1例以及其他染色体结构异常16例.结论 孕妇羊水细胞染色体核型检查,能安全有效的对胎儿染色体异常进行产前诊断,对于减少具有染色体病患儿的出生具有重要的指导意义.

  5. [Hair shaft abnormalities].

    Science.gov (United States)

    Itin, P H; Düggelin, M

    2002-05-01

    Hair shaft disorders may lead to brittleness and uncombable hair. In general the hair feels dry and lusterless. Hair shaft abnormalities may occur as localized or generalized disorders. Genetic predisposition or exogenous factors are able to produce and maintain hair shaft abnormalities. In addition to an extensive history and physical examination the most important diagnostic examination to analyze a hair shaft problem is light microscopy. Therapy of hair shaft disorders should focus to the cause. In addition, minimizing traumatic influences to hair shafts, such as dry hair with an electric dryer, permanent waves and dyes is important. A short hair style is more suitable for such patients with hair shaft disorders.

  6. Surgical treatment of acquired tracheocele.

    Science.gov (United States)

    Porubsky, Edward A; Gourin, Christine G

    2006-06-01

    Acquired tracheoceles are rare clinical entities that can cause a variety of chronic and recurrent aerodigestive tract symptoms. The management of acquired tracheoceles is primarily conservative, but surgical intervention may be indicated for patients with refractory symptoms. We present a case of acquired tracheocele and describe a method of successful surgical management.

  7. Cariótipo Fetal em Líquido Pleural Obtido por Toracocentese Fetal Karyotyping of Pleural Fluid Obtained by Thoracocentesis

    Directory of Open Access Journals (Sweden)

    Antonio Carlos Vieira Cabral

    2001-05-01

    blood. Results: the fetal karyotype was successful in 12 cases. There were 4 abnormal results, all of them were Down syndromes, and in the other 8 cases the chromosomal analyses were normal. The fetal karyotype was confirmed and compared by newborn blood chromosomal analysis, genetic evaluation or necropsy. There were no maternal or fetal side effects related to the procedure. Conclusions: the fetal karyotyping performed in pleural effusions obtained by intrauterine thoracocentesis proved to be highly efficient and safe. It must be the method of choice for rapid karyotyping in fetuses with pleural edema.

  8. Cortical Abnormalities in ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-12-01

    Full Text Available Grey-matter abnormalities at the cortical surface and regional brain size were mapped by high-resolution MRI and surface-based, computational image analytical techniques in a group of 27 children and adolescents with attention deficit hyperactivity disorder (ADHD and 46 controls, matched by age and sex, at the University of California at Los Angeles.

  9. Neurological abnormalities predict disability

    DEFF Research Database (Denmark)

    Poggesi, Anna; Gouw, Alida; van der Flier, Wiesje

    2014-01-01

    To investigate the role of neurological abnormalities and magnetic resonance imaging (MRI) lesions in predicting global functional decline in a cohort of initially independent-living elderly subjects. The Leukoaraiosis And DISability (LADIS) Study, involving 11 European centres, was primarily aimed...

  10. Lacrimal system abnormalities.

    Science.gov (United States)

    Moore, B D

    1994-03-01

    This report outlines several of the more important abnormalities of the lacrimal system in infants and young children. Although rare, alacrima can be a very difficult clinical problem to treat. The most common cause of alacrima is the Riley-Day syndrome. Nasolacrimal duct obstruction is a very common anomaly in children. The clinical appearance and treatment of this disorder are discussed.

  11. Acquired Factor VIII Inhibitors: Three Cases

    Directory of Open Access Journals (Sweden)

    Tay Za Kyaw

    2013-03-01

    Full Text Available Acquired hemophilia A is a rare, but devastating bleeding disorder caused by spontaneous development of autoantibodies directed against coagulation factor VIII. In 40%-50% of patients it is associated with such conditions as the postpartum period, malignancy, use of medications, and autoimmune diseases; however, its cause is unknown in most cases. Acquired hemophilia A should be suspected in patients that present with a coagulation abnormality, and a negative personal and family history of bleeding. Herein we report 3 patients with acquired hemophilia A that had different underlying pathologies, clinical presentations, and therapeutic responses. Factor VIII inhibitor formation in case 1 occurred 6 months after giving birth; underlying disorders were not identified in cases 2 or 3. The bleeding phenotype in these patients’ ranged from no bleeding tendency with isolated prolongation of APTT (activated partial thromboplastin time to severe intramuscular hematoma and hemarthrosis necessitating recombinant activated factor VII infusion and blood components transfusion. Variable responses to immunosuppressive treatment were also observed.

  12. Acquiring specific interpreting competence

    Directory of Open Access Journals (Sweden)

    Jana Zidar Forte

    2012-12-01

    Full Text Available In postgraduate interpreter training, the main objective of the course is to help trainees develop various competences, from linguistic, textual and cultural competence, to professional and specific interpreting competence. For simultaneous interpreting (SI, the main focus is on mastering the SI technique and strategies as well as on developing and strengthening communicative skills, which is discussed and illustrated with examples in the present paper. First, a brief overview is given of all the necessary competences of a professional interpreter with greater emphasis on specific interpreting competence for SI. In the second part of the paper, various approaches are described in terms of acquiring specific skills and strategies, specifically through a range of exercises. Besides interpreting entire speeches, practical courses should also consist of targeted exercises, which help trainees develop suitable coping strategies and mechanisms (later on almost automatisms, while at the same time "force" them to reflect on their individual learning process and interpreting performance. This provides a solid base on which trained interpreters can progress and develop their skills also after joining the professional sphere.

  13. Klinefelter's syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology

    NARCIS (Netherlands)

    Van Rijn, Sophie; Aleman, Andre; Swaab, Hanna; Kahn, Rene S.

    2006-01-01

    Klinefelter's syndrome, characterised by a 47,XXYchromosomal pattern, has largely been associated with physical abnormalities. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. This may have implications for treatment

  14. Clinical expression of Menkes disease in females with normal karyotype

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    Møller Lisbeth

    2012-01-01

    Full Text Available Abstract Background Menkes Disease (MD is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes. Methods We investigated at-risk females for mutations in the ATP7A gene by sequencing or by multiplex ligation-dependent probe amplification (MLPA. We analyzed the X-inactivation pattern in affected female carriers, unaffected female carriers and non-carrier females as controls, using the human androgen-receptor gene methylation assay (HUMAR. Results The clinical symptoms of affected females are generally milder than those of affected boys with the same mutations. While a skewed inactivation of the X-chromosome which harbours the mutation was observed in 94% of 49 investigated unaffected carriers, a more varied pattern was observed in the affected carriers. Of 9 investigated affected females, preferential silencing of the normal X-chromosome was observed in 4, preferential X-inactivation of the mutant X chromosome in 2, an even X-inactivation pattern in 1, and an inconclusive pattern in 2. The X-inactivation pattern correlates with the degree of mental retardation in the affected females. Eighty-one percent of 32 investigated females in the control group had moderately skewed or an even X-inactivation pattern. Conclusion The X- inactivation pattern alone cannot be used to predict the phenotypic outcome in female carriers, as even those with skewed X-inactivation of the X-chromosome harbouring the mutation might have neurological symptoms.

  15. Maternally acquired runt disease.

    Science.gov (United States)

    Beer, A E; Billingham, R E

    1973-01-19

    Without altering the structural integrity of the placenta by irradiation or drugs, we have shown that it is possible to immunize females both adoptively and actively against the paternally inherited transplantation antigens of their fetuses. Such immunization causes a high incidence of runt disease among the litters. Although the putative chimeric status of the affected offspring has yet to be confirmed, the results of our experiments support the thesis that runt disease is caused by the activities of "unwanted" immigrant lymphocytes from the maternal circulation. Our results suggest that immunologically activated cells are more likely to cross the placenta than normal cells and that this greater mobility may not be related to the immunologic specificity of the activated cells. Two factors may have contributed to the apparent failure of numerous previous attempts to demonstrate the capacity of transplantation immunity to affect the well-being of a fetus or, more correctly, its placenta, in the way that might be expected of a homograft. (i) Investigators were preoccupied with obtaining a classic type of rejection, in utero, analogous to the rejection of an orthotopic skin homograft. The birth of consistently healthy-looking litters, interpreted as a failure of the experiment, convinced the investigators of the efficacy of nature's solution of the homograft problem and there was no reason for them to suspect its possible limitations. Observation of the litters for several weeks might have uncovered the phenomenon of maternally induced runt disease. (ii) Most investigators resorted to hyperimmunization of the mothers. This would have facilitated the synthesis of protective isoantibodies capable of interfering with the expression of the potentially harmful cellular immune response (6). Ever since the abnormalities of runt disease were first described they have repeatedly been compared to those observed in patients with certain lymphomas (17). Various theories have been

  16. Firm Characteristic’s and Shareholder Wealth Effects: An Acquiring Firm perspective in India for Cross-border and Domestic Acquisitions

    OpenAIRE

    Rama Bhadran Shamala, Srikanth

    2011-01-01

    I analyse, what is the differences in abnormal returns to acquiring firm shareholders for cross-border and domestic acquisitions in India? Does the acquiring firm characteristics have a significant impact on acquiring firm’s shareholder wealth for both cross-border and domestic acquisitions? For the purpose of this study I have collected a total sample of 200 Indian acquiring companies, comprising of 100 cross-border acquiring companies and 100 domestic acquiring companies respectively, for t...

  17. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft;

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  18. Partial epilepsy and 47,XXX karyotype: report of four cases.

    Science.gov (United States)

    Roubertie, Agathe; Humbertclaude, Véronique; Leydet, Julie; Lefort, Geneviève; Echenne, Bernard

    2006-07-01

    Epilepsy is a common finding in chromosomal imbalances, but only a few chromosome abnormalities have a characteristic electro-clinical pattern. Trisomy X is one of the most common sex chromosome abnormalities in females, and is associated with considerable phenotypic variability. This report describes four 47,XXX females with mental deficiency and epilepsy. Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association 47,XXX/epilepsy/mental retardation may not be coincidental. This report also enlarges the clinical spectrum of the 47,XXX phenotype. Moreover, these observations highlight the critical role of chromosome X in epilepsy and mental retardation.

  19. A new karyotype of Wiedomys pyrrhorhinus (Rodentia: Sigmodontinae from Chapada Diamantina, northeastern Brazil

    Directory of Open Access Journals (Sweden)

    Ana L. G Souza

    2011-02-01

    Full Text Available A new karyotype of Wiedomys pyrrhorhinus (Wied, 1821 is described, including G- and C-banding and Ag-NOR sites from specimens collected in the municipality of Morro do Chapéu, situated in the northern region of the Chapada Diamantina, state of Bahia. Karyological studies of W. pyrrhorhinus have shown a constant diploid number (2n of 62 with two different numbers of autosomal arms (FNa: 86 and 90, respectively. The new karyotype revealed 2n = 62 and FNa = 104, being the higher autosomal number found so far for this genus. The X chromosome is a large acrocentric and the Y chromosome is a small acrocentric. The analysis of the karyotype morphology suggests that this new karyotype is more closely related to the previous karyotype with 2n = 62 and FNa = 90, described from Caetité, Bahia State. Further studies, comparing different populations of W. pyrrhorhinus, including molecular approaches, may help to better understand the geographical limits of each population and their phylogenetic relationships in the Caatinga biome

  20. Chromosome karyotype analysis in the study of clinical significance in embryo development arrest%染色体核型分析在胚胎停育中的临床意义的研究

    Institute of Scientific and Technical Information of China (English)

    张玉萍; 杨欣艳; 孙盛梅; 何春久; 张淑红; 朱金玲; 王长山

    2016-01-01

    目的 探讨胚胎停育的发病原因和胚胎停育染色体检测的临床意义.方法 获取107例胚胎停育患者的绒毛进行细胞培养,染色体制备与核型分析,结果 107例胚胎停育患者的胚胎绒毛组织,细胞培养失败6例,检出异常核型65例,染色体异常比率64.36%.结论 染色体异常是导致胚胎停育的重要因素.%Objective:To explore the etiology of embryo development arrest and clinical significance of embryo chromosome detection.Methods:Selected for 107 cases of patients with embryo development arrest chorionic villus,in cell culture,preparation of chromosome and karyotype analysis.Results:107 cases of patients with embryo development arrest villus tissue,cell culture failed to 6 cases,detected abnormal karyotype in 65 cases,chromosome abnormality rate was 64.36%.Conclusion:Chromosome abnormality is one of the important factors in embryo development arrest.

  1. [Molecular abnormalities in lymphomas].

    Science.gov (United States)

    Delsol, G

    2010-11-01

    Numerous molecular abnormalities have been described in lymphomas. They are of diagnostic and prognostic value and are taken into account for the WHO classification of these tumors. They also shed some light on the underlying molecular mechanisms involved in lymphomas. Overall, four types of molecular abnormalities are involved: mutations, translocations, amplifications and deletions of tumor suppressor genes. Several techniques are available to detect these molecular anomalies: conventional cytogenetic analysis, multicolor FISH, CGH array or gene expression profiling using DNA microarrays. In some lymphomas, genetic abnormalities are responsible for the expression of an abnormal protein (e.g. tyrosine-kinase, transcription factor) detectable by immunohistochemistry. In the present review, molecular abnormalities observed in the most frequent B, T or NK cell lymphomas are discussed. In the broad spectrum of diffuse large B-cell lymphomas microarray analysis shows mostly two subgroups of tumors, one with gene expression signature corresponding to germinal center B-cell-like (GCB: CD10+, BCL6 [B-Cell Lymphoma 6]+, centerine+, MUM1-) and a subgroup expressing an activated B-cell-like signature (ABC: CD10-, BCL6-, centerine-, MUM1+). Among other B-cell lymphomas with well characterized molecular abnormalies are follicular lymphoma (BCL2 deregulation), MALT lymphoma (Mucosa Associated Lymphoid Tissue) [API2-MALT1 (mucosa-associated-lymphoid-tissue-lymphoma-translocation-gene1) fusion protein or deregulation BCL10, MALT1, FOXP1. MALT1 transcription factors], mantle cell lymphoma (cycline D1 [CCND1] overexpression) and Burkitt lymphoma (c-Myc expression). Except for ALK (anaplastic lymphoma kinase)-positive anaplastic large cell lymphoma, well characterized molecular anomalies are rare in lymphomas developed from T or NK cells. Peripheral T cell lymphomas not otherwise specified are a heterogeneous group of tumors with frequent but not recurrent molecular abnormalities

  2. Feeling Abnormal: Simulation of Deviancy in Abnormal and Exceptionality Courses.

    Science.gov (United States)

    Fernald, Charles D.

    1980-01-01

    Describes activity in which student in abnormal psychology and psychology of exceptional children classes personally experience being judged abnormal. The experience allows the students to remember relevant research, become sensitized to the feelings of individuals classified as deviant, and use caution in classifying individuals as abnormal.…

  3. Application of chromosomal karyotype analysis of amniotic cells for pregnant women with advanced maternal age%羊水细胞染色体核型分析在高龄孕妇产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    许多

    2012-01-01

    Objective; To conduct prenatal diagnosis among pregnant women with advanced maternal age through chromosomal karyotype analysis of amniotic cells. Methods; A total of 910 pregnant women with advanced maternal age during 16-27 gestational weeks were selected, then amniotic cells were obtained by amniocentesis and cultured, chromosomal karyotype analysis was conducted after preparing chromosomes. Results; Among 910 pregnant women, amniotic cells culture succeeded in 891 , the successful rate was 97. 91%. Postoperative abortion occurred in 5 women, the abortion rate was 0.55%. A total of 43 pregnant women were found with abnormal karyotypes, including 24 pregnant women with autosomal chromosomal numerical abnormality, 6 pregnant women with sex chromosomal numerical abnormality, 2 pregnant women with chimera, and 11 pregnant women with chromosomal structural abnormality. Conclusion; Chromosomal karyotype analysis of amniotic cells is safe, effective, and essential prenatal diagnosis of pregnant women with advanced maternal age.%目的:利用羊水细胞染色体核型分析对高龄孕妇进行产前诊断.方法:对910例孕16 ~ 27周高龄孕妇进行羊膜腔穿刺抽取羊水细胞培养,制备染色体并分析染色体核型.结果:910例高龄孕妇,羊水培养成功891例,成功率为97.91%.5例术后流产,流产率为0.55%.检出43例异常核型,其中常染色体数目异常24例,性染色体数目异常6例,嵌合体2例,结构异常11例.结论:羊水细胞染色体核型分析高龄孕妇产前诊断是安全、有效且必要的.

  4. El cariotipo fundamental de Alstroemeria patagonica (Alstroemeriaceae The fundamental karyotype of Alstroemeria patagonia (Alstroemeriaceae

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    Carlos M Baeza

    2011-12-01

    Full Text Available Se describe el cariotipo de Alstroemeria patagonica Phil. a partir de material de Chile. Esta especie presenta un cariotipo 2n = 2x = 16, y una fórmula haploide de 1m + 2sm + 1sm-sat + 2st + 1st-sat + 1t. El cariotipo encontrado es muy asimétrico (AsK % = 76,0.The karyotype of Alstroemeria patagonia Phil. from Chile was described. The species had a karyotype 2n = 2x = 16, and the haploid formula was 1m + 2sm + 1sm-sat + 2st + 1st-sat + 1t. The reported karyotype was very asymmetric (AsK % = 76.0.

  5. [Karyotype and divergence of stream Dolly Varden from the Southern Sakhalin].

    Science.gov (United States)

    Frolov, S V; Miller, I N; Frolova, V N

    2000-03-01

    The karyotype of stream Dolly Varden inhabiting a tributary of the Belaya River (the basin of Naiba River, southern Sakhalin) was determined (2n = 82 and NF = 98 + 2). According to the main characteristics (chromosome number and arm number, the presence of a pair of marker submeta-subtelocentric chromosomes with nucleolus organizer regions (NORs), one pair of large acrocentric chromosomes, and one pair of subtelocentric chromosomes), this karyotype is identical to the karyotype of anadromous southern Dolly Varden from Salvelinus malma krasheninnikovi of Primorye and Japan. However, in most stream Dolly Varden individuals, additional active nucleolus organizer regions (NORs) located in telomeric and paracentric regions of two to three pairs of acrocentric chromosomes were revealed. It is suggested that the stream and anadromous southern forms of Dolly Varden are evolutionarily related NORs that are silent in the anadromous souther form are active in the stream form. Possible causes of these differences in NOR activity are discussed.

  6. Russia: An Abnormal Country

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    Steven Rosefielde

    2005-06-01

    Full Text Available Andrei Shleifer and Daniel Treisman recently rendered a summary verdict on the post Soviet Russian transition experience finding that the Federation had become a normal country with the west's assistance, and predicting that it would liberalize and develop further like other successful nations of its type. This essay demonstrates that they are mistaken on the first count, and are likely to be wrong on the second too. It shows factually, and on the norms elaborated by Pareto, Arrow and Bergson that Russia is an abnormal political economy unlikely to democratize, westernize or embrace free enterprise any time soon

  7. Abnormal ionization in sonoluminescence

    Science.gov (United States)

    Zhang, Wen-Juan; An, Yu

    2015-04-01

    Sonoluminescence is a complex phenomenon, the mechanism of which remains unclear. The present study reveals that an abnormal ionization process is likely to be present in the sonoluminescing bubble. To fit the experimental data of previous studies, we assume that the ionization energies of the molecules and atoms in the bubble decrease as the gas density increases and that the decrease of the ionization energy reaches about 60%-70% as the bubble flashes, which is difficult to explain by using previous models. Project supported by the Research Fund for the Doctoral Program of Higher Education of China (Grant No. 20120002110031) and the National Natural Science Foundation of China (Grant No. 11334005).

  8. Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma

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    Wang Shengyue

    2011-07-01

    Full Text Available Abstract Background Hepatocellular carcinoma (HCC is a worldwide malignant liver tumor with high incidence in China. Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital karyotyping was an effective method for analyzing genome-wide chromosomal aberrations at high resolution. Methods A digital karyotyping library of HCC was constructed and 454 Genome Sequencer FLX System (Roche was applied in large scale sequencing of the library. Digital Karyotyping Data Viewer software was used to analyze genomic amplifications and deletions. Genomic amplifications of genes detected by digital karyotyping were examined by real-time quantitative PCR. The mRNA expression level of these genes in tumorous and paired nontumorous tissues was also detected by real-time quantitative RT-PCR. Results A total of 821,252 genomic tags were obtained from the digital karyotyping library of HCC, with 529,162 tags (64% mapped to unique loci of human genome. Multiple subchromosomal amplifications and deletions were detected through analyzing the digital karyotyping data, among which the amplification of 7q21.3 drew our special attention. Validation of genes harbored within amplicons at 7q21.3 locus revealed that genomic amplification of SGCE, PEG10, DYNC1I1 and SLC25A13 occurred in 11 (21%, 11 (21%, 11 (21% and 23 (44% of the 52 HCC samples respectively. Furthermore, the mRNA expression level of SGCE, PEG10 and DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. Conclusions Our results indicated that subchromosomal region of 7q21.3 was amplified in HCC, and SGCE, PEG10 and DYNC1I1 were probable protooncogenes located within the 7q21.3 locus.

  9. Cytogenetic analysis of colorectal adenomas: karyotypic comparisons of synchronous tumors

    DEFF Research Database (Denmark)

    Bomme, L; Bardi, G; Pandis, N

    1998-01-01

    adenomas. Twenty-four colorectal adenomas from 11 patients were subjected to chromosome banding analysis. Clonal chromosome abnormalities were found in 20 tumors. Recurrent structural rearrangements involved chromosomes 1, 13, 17, and 18. The most common numerical changes were gain of chromosomes 7, 13, 20......, and 3 and loss of chromosome 18. Eight adenomas had subclones as evidence of clonal evolution. Similar clones in separate polyps were seen in tumors from 6 patients; these adenomas were always located in the same part of the large bowel. In 2 patients, both with one rectal adenoma and one adenoma...

  10. 46,XX Karyotype in a Male with Ambigious Genitalia: A Case Report

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    Mahmut Balkan

    2004-01-01

    Full Text Available 40 days old case who were diagnosed with ambigious genitalia were sentto laboratory of cytogenetics. Mother was 26 years old and have to alivechildren and case were the second child and applied to Child SurgeryDepartment due to continiously vomiting and uneasy conditions. Sexualdevelopment were as male on physical examinations. Cell culture wasapplied for chromosomal analysis. Slides were stained with GiemsaBanding Staining (GTG and 100 cells were totaly counted and karyotypingwere done with 15 metaphase. Chromosome with 46,XX karyotype. Casewere taken under consideration of congenital adrenel hyperplasia afterevalution of karyotype. Case were discussed according to by information ofpresents literatures.

  11. Description of a new species and the karyotype of the cavernicolous millipede Pseudonannolene Silvestri and the karyotype of Pseudonannolene strinatti Mauriès (Diplopoda, Pseudonannolenida, Pseudonannolenidae

    Directory of Open Access Journals (Sweden)

    Carmem Silvia Fontanetti

    1996-01-01

    Full Text Available Pseudonannolene tocaiensis, sp.n. is described from Brazil, São Paulo, Itirapina. The karyotypes of P. tocaiensis, sp.n. and P. strinatti Mauriès, 1974 are also presented, both species are found in cave environments. P. tocaiensis has 2n=20, XY and P. strinatti, 2n=16; it was not possible to observe the sex determination mechanism in the latter.

  12. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne;

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  13. Chromothripsis Is a Recurrent Genomic Abnormality in High-Risk Myelodysplastic Syndromes

    Science.gov (United States)

    Abáigar, María; Robledo, Cristina; Benito, Rocío; Ramos, Fernando; Díez-Campelo, María; Hermosín, Lourdes; Sánchez-del-Real, Javier; Alonso, Jose M.; Cuello, Rebeca; Megido, Marta; Rodríguez, Juan N.; Martín-Núñez, Guillermo; Aguilar, Carlos; Vargas, Manuel; Martín, Ana A.; García, Juan L.; Kohlmann, Alexander; del Cañizo, M. Consuelo; Hernández-Rivas, Jesús M.

    2016-01-01

    To explore novel genetic abnormalities occurring in myelodysplastic syndromes (MDS) through an integrative study combining array-based comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a series of MDS and MDS/myeloproliferative neoplasms (MPN) patients. 301 patients diagnosed with MDS (n = 240) or MDS/MPN (n = 61) were studied at the time of diagnosis. A genome-wide analysis of DNA copy number abnormalities was performed. In addition, a mutational analysis of DNMT3A, TET2, RUNX1, TP53 and BCOR genes was performed by NGS in selected cases. 285 abnormalities were identified in 71 patients (23.6%). Three high-risk MDS cases (1.2%) displayed chromothripsis involving exclusively chromosome 13 and affecting some cancer genes: FLT3, BRCA2 and RB1. All three cases carried TP53 mutations as revealed by NGS. Moreover, in the whole series, the integrative analysis of aCGH and NGS enabled the identification of cryptic recurrent deletions in 2p23.3 (DNMT3A; n = 2.8%), 4q24 (TET2; n = 10%) 17p13 (TP53; n = 8.5%), 21q22 (RUNX1; n = 7%), and Xp11.4 (BCOR; n = 2.8%), while mutations in the non-deleted allele where found only in DNMT3A (n = 1), TET2 (n = 3), and TP53 (n = 4). These cryptic abnormalities were detected mainly in patients with normal (45%) or non-informative (15%) karyotype by conventional cytogenetics, except for those with TP53 deletion and mutation (15%), which had a complex karyotype. In addition to well-known copy number defects, the presence of chromothripsis involving chromosome 13 was a novel recurrent change in high-risk MDS patients. Array CGH analysis revealed the presence of cryptic abnormalities in genomic regions where MDS-related genes, such as TET2, DNMT3A, RUNX1 and BCOR, are located. PMID:27741277

  14. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne;

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  15. A Rare Stapes Abnormality

    Directory of Open Access Journals (Sweden)

    Hala Kanona

    2015-01-01

    Full Text Available The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50 dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively.

  16. Acquired ichthyosis with hoffman's syndrome

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    Sathyanarayana B

    2003-01-01

    Full Text Available A middle aged man presented with features of acquired ichthyosis with Hoffman's syndrome. Laboratory tests support hypothyodism. Myoedema and hypertrophy of muscles were present. Patient was previously treated for Pellagra.

  17. 1016例孕中期孕妇羊水细胞的培养及染色体核型分析%Amniotic cell culture and karyotype analysis of 1 016 pregnant women in second trimester

    Institute of Scientific and Technical Information of China (English)

    黎永鉴; 闫丽琼; 庞义坚

    2014-01-01

    Objective To investigate the application value of amniotic cell culture and karyotype analysis in prenatal diagnosis . Methods 1 016 pregnant women in second trimester were subject to amniocentesis under the guidance of B-type ultrasonic inspec-tion ,and the cell culture and karyotype analysis were performed on the amniotic fluid which had been drawn out .Results Among 1 016 pregnant women ,1 011(99 .5% ) succeeded in the first operation of amniocentesis and cell culture .The detection rate of fetal chromosomal abnormal karyotype was 10 .3% (105/1 016) ,in which 8 .3% (85/1 016) of structural abnormality and 2 .0%(20/1 016) of quantity abnormality .856 cases were received follow-up .Conclusion Amniotic fluid cell culture and karyotype analy-sis is a safe and reliable method for prenatal diagnosis .%目的:探讨羊水细胞培养和染色体核型分析在产前诊断中的的应用价值。方法对1016例孕中期孕妇,在B型超声波检查的监护下行羊膜腔穿刺术,对抽出的羊水进行细胞培养及染色体核型分析。结果 1016例孕妇中,一次性羊水穿刺、细胞培养成功1011例(99.5%)。胎儿染色体异常核型检出率为10.3%(105/1016),其中,结构异常8.3%(85/1016);数目异常2.0%(20/1016)。856例接受随访。结论羊水细胞培养及染色体核型分析是安全、可靠的产前诊断方法。

  18. First Description of the Karyotype and Sex Chromosomes in the Komodo Dragon (Varanus komodoensis).

    Science.gov (United States)

    Johnson Pokorná, Martina; Altmanová, Marie; Rovatsos, Michail; Velenský, Petr; Vodička, Roman; Rehák, Ivan; Kratochvíl, Lukáš

    2016-01-01

    The Komodo dragon (Varanus komodoensis) is the largest lizard in the world. Surprisingly, it has not yet been cytogenetically examined. Here, we present the very first description of its karyotype and sex chromosomes. The karyotype consists of 2n = 40 chromosomes, 16 macrochromosomes and 24 microchromosomes. Although the chromosome number is constant for all species of monitor lizards (family Varanidae) with the currently reported karyotype, variability in the morphology of the macrochromosomes has been previously documented within the group. We uncovered highly differentiated ZZ/ZW sex microchromosomes with a heterochromatic W chromosome in the Komodo dragon. Sex chromosomes have so far only been described in a few species of varanids including V. varius, the sister species to Komodo dragon, whose W chromosome is notably larger than that of the Komodo dragon. Accumulations of several microsatellite sequences in the W chromosome have recently been detected in 3 species of monitor lizards; however, these accumulations are absent from the W chromosome of the Komodo dragon. In conclusion, although varanids are rather conservative in karyotypes, their W chromosomes exhibit substantial variability at the sequence level, adding further evidence that degenerated sex chromosomes may represent the most dynamic genome part.

  19. Comparative karyotypic analysis in the Alstroemeria hookeri Lodd. (Alstroemeriaceae) complex sensu Bayer (1987).

    Science.gov (United States)

    Baeza, Carlos; Ruiz, Eduardo; Negritto, María

    2010-01-01

    Alstroemeria L. (Alstroemeriaceae) is an American genus of monocots with two principal distribution centers in Chile and Brazil. In Chile, it is represented by about 32 species, most of them in central Chile, an area known for its high level of endemism. The "complex" Alstroemeriahookeri is endemic to Chile, where it is distributed from the Coquimbo to the Bío-Bío Region. We analyzed the karyotypes of 36 populations of this complex along its natural distribution. Ten metaphases per population were used for chromosome measurements. All analyzed subspecies presented a well defined asymmetric karyotype. The populations of A. hookeri subsp. hookeri collected in the coastal range of the Bío-Bío Region and the populations from the Central Valley of this Region (Pangal del Laja) presented striking morphological differences in the karyotype, mainly on chromosome 3. The population of A. hookeri subsp. recumbens from Pichicuy showed a polymorphism on chromosome 7, which differed from the other analyzed populations of this subspecies. Phenetic analysis suggested that A. hookeri subsp. cummingiana, which showed a more symmetrical karyotype and did not grow in sandy soil, should be alocated to A. cummingiana rather than considered as part of the hookeri complex.

  20. Comparative karyotypic analysis in the Alstroemeria hookeri Lodd. (Alstroemeriaceae complex sensu Bayer (1987

    Directory of Open Access Journals (Sweden)

    Carlos Baeza

    2010-01-01

    Full Text Available Alstroemeria L. (Alstroemeriaceae is an American genus of monocots with two principal distribution centers in Chile and Brazil. In Chile, it is represented by about 32 species, most of them in central Chile, an area known for its high level of endemism. The "complex" Alstroemeria hookeri is endemic to Chile, where it is distributed from the Coquimbo to the Bío-Bío Region. We analyzed the karyotypes of 36 populations of this complex along its natural distribution. Ten metaphases per population were used for chromosome measurements. All analyzed subspecies presented a well defined asymmetric karyotype. The populations of A. hookeri subsp. hookeri collected in the coastal range of the Bío-Bío Region and the populations from the Central Valley of this Region (Pangal del Laja presented striking morphological differences in the karyotype, mainly on chromosome 3. The population of A. hookeri subsp. recumbens from Pichicuy showed a polymorphism on chromosome 7, which differed from the other analyzed populations of this subspecies. Phenetic analysis suggested that A. hookeri subsp. cummingiana, which showed a more symmetrical karyotype and did not grow in sandy soil, should be alocated to A. cummingiana rather than considered as part of the hookeri complex.

  1. Karyotype differentiation of four Cestrum species (Solanaceae based on the physical mapping of repetitive DNA

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    Jéferson Nunes Fregonezi

    2006-01-01

    Full Text Available We studied the karyotypes of four Brazilian Cestrum species (C. amictum, C. intermedium, C. sendtnerianum and C. strigilatum using conventional Feulgen staining, C-Giemsa and C-CMA3/DAPI banding, induction of cold-sensitive regions (CSRs and fluorescent in situ hybridization (FISH with rDNA probes. We found that the karyotypes of all four species was 2n = 2x = 16, with, except for the eighth acrocentric pair, a predominance of meta- and submetacentric chromosomes and various heterochromatin classes. Heterochromatic types previously unreported in Cestrum as neutral C-CMA3(0/DAPI0 bands, CMA3+ bands not associated with NORs, and C-Giemsa/CSR/DAPI- bands were found. The heterochromatic blocks varied in size, number, position and composition. The 45S rDNA probe preferentially located in the terminal and subterminal regions of some chromosomes, while 5S rDNA appeared close to the centromere of the long arm of pair 8. These results suggest that karyotype differentiation can occur mainly due to changes in repetitive DNA, with little modification in the general composition of the conventionally stained karyotype.

  2. Karyotype differentiation of four Cestrum species (Solanaceae) revealed by fluorescent chromosome banding and FISH.

    Science.gov (United States)

    Fernandes, Thiago; de Almeida Rego, Letícia do Nascimento Andrade; Nardy, Mariana; Yuyama, Priscila Mary; Vanzela, André Luís Laforga

    2009-04-01

    The karyotypes of four South American species of Cestrum (C. capsulare,C. corymbosum,C. laevigatum and C. megalophylum) were studied using conventional staining, C-CMA/DAPI chromosome banding and FISH with 45S and 5S rDNA probes. The karyotypes showed a chromosome number of 2n = 2x = 16, with metacentric chromosomes, except for the eighth submeta- to acrocentric pair. Several types of heterochromatin were detected, which varied in size, number, distribution and base composition. The C-CMA(+) bands and 45S rDNA were located predominantly in terminal regions. The C-CMA (+) /DAPI (+) bands appeared in interstitial and terminal regions, and the C-DAPI (+) bands were found in all chromosome regions. The 5S rDNA sites were observed on the long arm of pair 8 in all species except C. capsulare, where they were found in the paracentromeric region of the long arm of pair 4. The differences in band patterns among the species studied here, along with data from other nine species reported in the literature, suggest that the bands are dispersed in an equilocal and non-equilocal manner and that structural rearrangements can be responsible for internal karyotype diversification. However, it is important to point out that the structural changes involving repetitive segments did not culminate in substantial changes in the general karyotype structure concerning chromosome size and morphology.

  3. Karyotype differentiation of four Cestrum species (Solanaceae revealed by fluorescent chromosome banding and FISH

    Directory of Open Access Journals (Sweden)

    Thiago Fernandes

    2009-01-01

    Full Text Available The karyotypes of four South American species of Cestrum (C. capsulare, C. corymbosum, C. laevigatum and C. megalophylum were studied using conventional staining, C-CMA/DAPI chromosome banding and FISH with 45S and 5S rDNA probes. The karyotypes showed a chromosome number of 2n = 2x = 16, with metacentric chromosomes, except for the eighth submeta- to acrocentric pair. Several types of heterochromatin were detected, which varied in size, number, distribution and base composition. The C-CMA+ bands and 45S rDNA were located predominantly in terminal regions. The C-CMA+/DAPI+ bands appeared in interstitial and terminal regions, and the C-DAPI+ bands were found in all chromosome regions. The 5S rDNA sites were observed on the long arm of pair 8 in all species except C. capsulare, where they were found in the paracentromeric region of the long arm of pair 4. The differences in band patterns among the species studied here, along with data from other nine species reported in the literature, suggest that the bands are dispersed in an equilocal and non-equilocal manner and that structural rearrangements can be responsible for internal karyotype diversification. However, it is important to point out that the structural changes involving repetitive segments did not culminate in substantial changes in the general karyotype structure concerning chromosome size and morphology.

  4. Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain.

    Science.gov (United States)

    Viana, Joana; Pidsley, Ruth; Troakes, Claire; Spiers, Helen; Wong, Chloe Cy; Al-Sarraj, Safa; Craig, Ian; Schalkwyk, Leonard; Mill, Jonathan

    2014-04-01

    Klinefelter syndrome (KS) is the most common sex-chromosome aneuploidy in humans. Most affected individuals carry one extra X-chromosome (47,XXY karyotype) and the condition presents with a heterogeneous mix of reproductive, physical and psychiatric phenotypes. Although the mechanism(s) by which the supernumerary X-chromosome determines these features of KS are poorly understood, skewed X-chromosome inactivation (XCI), gene-dosage dysregulation, and the parental origin of the extra X-chromosome have all been implicated, suggesting an important role for epigenetic processes. We assessed genomic, methylomic and transcriptomic variation in matched prefrontal cortex and cerebellum samples identifying an individual with a 47,XXY karyotype who was comorbid for schizophrenia and had a notably reduced cerebellum mass compared with other individuals in the study (n = 49). We examined methylomic and transcriptomic differences in this individual relative to female and male samples with 46,XX or 46,XY karyotypes, respectively, and identified numerous locus-specific differences in DNA methylation and gene expression, with many differences being autosomal and tissue-specific. Furthermore, global DNA methylation, assessed via the interrogation of LINE-1 and Alu repetitive elements, was significantly altered in the 47,XXY patient in a tissue-specific manner with extreme hypomethylation detected in the prefrontal cortex and extreme hypermethylation in the cerebellum. This study provides the first detailed molecular characterization of the prefrontal cortex and cerebellum from an individual with a 47,XXY karyotype, identifying widespread tissue-specific epigenomic and transcriptomic alterations in the brain.

  5. Analyses of karyotypic characteristics and prognosis in pediatric acute myeloblastic leukemia

    Institute of Scientific and Technical Information of China (English)

    阮敏

    2012-01-01

    Objective Acute myeloblastic leukemia(AML) accounts for 15 to 25 percent of childhood acute leukemias. Cytogenetic information is important for diagnosis,classification and prognosis of AML. Our aim was to analyze the relationship between karyotypic characteristics and prognosis of childhood

  6. Karyotype analysis of Lilium longiflorum and Lilium rubellum by chromosome banding and fluorescence in situ hybridisation

    NARCIS (Netherlands)

    Lim, K.B.; Wennekes, J.; Jong, de J.H.S.G.M.; Jacobsen, E.; Tuyl, van J.M.

    2001-01-01

    Detailed karyotypes of Lilium longiflorum and L. rubellum were constructed on the basis of chromosome arm lengths, C-banding, AgNO3 staining, and PI-DAPI banding, together with fluorescence in situ hybridisation (FISH) with the 5S and 45S rDNA sequences as probes. The C-banding patterns that were ob

  7. Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

    NARCIS (Netherlands)

    Kooper, A.J.A.; Pieters, J.J.; Faas, B.H.W.; Hoefsloot, L.H.; Burgt, C.J.A.M. van der; Zondervan, H.A.; Smits, A.P.T.

    2012-01-01

    ABSTRACT: As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic

  8. Comparative Chromosome Map and Heterochromatin Features of the Gray Whale Karyotype (Cetacea).

    Science.gov (United States)

    Kulemzina, Anastasia I; Proskuryakova, Anastasia A; Beklemisheva, Violetta R; Lemskaya, Natalia A; Perelman, Polina L; Graphodatsky, Alexander S

    2016-01-01

    Cetacean karyotypes possess exceptionally stable diploid numbers and highly conserved chromosomes. To date, only toothed whales (Odontoceti) have been analyzed by comparative chromosome painting. Here, we studied the karyotype of a representative of baleen whales, the gray whale (Eschrichtius robustus, Mysticeti), by Zoo-FISH with dromedary camel and human chromosome-specific probes. We confirmed a high degree of karyotype conservation and found an identical order of syntenic segments in both branches of cetaceans. Yet, whale chromosomes harbor variable heterochromatic regions constituting up to a third of the genome due to the presence of several types of repeats. To investigate the cause of this variability, several classes of repeated DNA sequences were mapped onto chromosomes of whale species from both Mysticeti and Odontoceti. We uncovered extensive intrapopulation variability in the size of heterochromatic blocks present in homologous chromosomes among 3 individuals of the gray whale by 2-step differential chromosome staining. We show that some of the heteromorphisms observed in the gray whale karyotype are due to distinct amplification of a complex of common cetacean repeat and heavy satellite repeat on homologous autosomes. Furthermore, we demonstrate localization of the telomeric repeat in the heterochromatin of both gray and pilot whale (Globicephala melas, Odontoceti). Heterochromatic blocks in the pilot whale represent a composite of telomeric and common repeats, while heavy satellite repeat is lacking in the toothed whale consistent with previous studies.

  9. Karyotypes of four species of Xenodontini snakes (Serpentes: Dipsadidae) and implications for taxonomy

    NARCIS (Netherlands)

    Falcione, C.; Hernando, A.; Barrasso, D.A.; Pietro, di D.

    2016-01-01

    The karyotypes of four South American Xenodontini snake species, Lygophis dilepis, L. meridionalis, L. flavifrenatus and L. anomalus, are here described for the first time. We studied specimens from northeastern Argentina using conventional and silver (Ag-NOR) staining. While the typical ophidian ka

  10. Karyotype Analysis in Wild Diploid, Tetraploid, and Hexaploid Strawberries, Fragaria (Rosaceae)

    Science.gov (United States)

    The Strawberry, genus Fragaria (Rosaceae) has a basic chromosome count of x = 7, and is comprised of 20 wild species having an euploid series from diploid (2n = 2x = 14) through decaploid (2n = 10x = 70). Few karyotypes of species in this genus have been reported. The objective of this research was ...

  11. Identification of Chromosome Abnormalities in Subtelomeric Regions by Microarray Analysis: A Study of 5,380 Cases

    Science.gov (United States)

    Shao, Lina; Shaw, Chad A.; Lu, Xin-Yan; Sahoo, Trilochan; Bacino, Carlos A.; Lalani, Seema R.; Stankiewicz, Pawel; Yatsenko, Svetlana A.; Li, Yinfeng; Neill, Sarah; Pursley, Amber N.; Chinault, A. Craig; Patel, Ankita; Beaudet, Arthur L.; Lupski, James R.; Cheung, Sau W.

    2009-01-01

    Subtelomeric imbalances are a significant cause of congenital disorders. Screening for these abnormalities has traditionally utilized GTG-banding analysis, fluorescence in situ hybridization (FISH) assays, and multiplex ligation-dependent probe amplification. Microarray-based comparative genomic hybridization (array-CGH) is a relatively new technology that can identify microscopic and submicroscopic chromosomal imbalances. It has been proposed that an array with extended coverage at subtelomeric regions could characterize subtelomeric aberrations more efficiently in a single experiment. The targeted arrays for chromosome microarray analysis (CMA), developed by Baylor College of Medicine, have on average 12 BAC/PAC clones covering 10 Mb of each of the 41 subtelomeric regions. We screened 5,380 consecutive clinical patients using CMA. The most common reasons for referral included developmental delay (DD), and/or mental retardation (MR), dysmorphic features (DF), multiple congenital anomalies (MCA), seizure disorders (SD), and autistic, or other behavioral abnormalities. We found pathogenic rearrangements at subtelomeric regions in 236 patients (4.4%). Among these patients, 103 had a deletion, 58 had a duplication, 44 had an unbalanced translocation, and 31 had a complex rearrangement. The detection rates varied among patients with a normal karyotype analysis (2.98%), with an abnormal karyotype analysis (43.4%), and with an unavailable or no karyotype analysis (3.16%). Six patients out of 278 with a prior normal subtelomere-FISH analysis showed an abnormality including an interstitial deletion, two terminal deletions, two interstitial duplications, and a terminal duplication. In conclusion, genomic imbalances at subtelomeric regions contribute significantly to congenital disorders. Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances. PMID

  12. 561例血液病患者染色体核型分析%Analysis of karyotypic changes in 561 hematopathy cases

    Institute of Scientific and Technical Information of China (English)

    吴海燕; 吴秉毅; 李洁; 刘鲲; 李玉华; 郭坤元; 宋朝阳

    2011-01-01

    目的 探讨血液病患者有关核型改变及其意义.方法 抽取骨髓标本2~5 ml,采用骨髓细胞直接法、24 h短期培养法制备染色体标本,用G显带技术进行核型分析.结果 561例血液病患者中,常规细胞遗传学发现异常核型282例(50.3%),其中结构异常116例(20.7%),数目异常84例(15.0%),同时有结构异常和数目异常82例(14.6%).不同类型血液病患者染色体检测结果不同,在急性髓系白血病(AML)、急性淋巴细胞白血病(ALL)、慢性粒细胞白血病(CML)、骨髓增生异常综合症(MDS)、再生障碍性贫血(AA)、骨髓增殖性疾病(MPD)、淋巴瘤、血小板减少症中异常核型分别为56.5%(109/193)、44.9%(57/127)、74.7%(62/83)、56.7%(34/60)、3.7%(1/27)、0%(0/15)、72.7%(8/11)、0%(0/5),在急性混合细胞白血病、特发性血小板减少性紫癜(ITP)、多发性骨髓瘤(MM)、慢性粒单细胞白血病(CMML)、淋巴瘤白血病、慢性淋巴细胞白血病(CLL)、纯红再障、恶性组织细胞病等较少患者中,异常核型分别为25.0%(2/8)、0%(0/8)、20%(1/5)、0%(0/5)、100%(4/4)、40%(2/5)、0%(0/3)、100%(2/2).M2伴t(8;21),M3伴t(15;17),M4伴inv(16)、t(16;16),ALL伴t(9;22)CR率分别为88.2%、94.7%、80%、45.5%.结论 染色体核型分析在恶性血液病诊断、分型、预后判断和指导治疗中具有重要意义.%Objective To evaluate the karyotypic changes of hematopathies and its significance. Methods Karyotyping was directly performed from bone marrow cells or after 24 h short time culture. Karyotypes were analyzed by G-banding technique.Results 282 cytogenetic abnormalities (50.3%) were found in 561 hematological disorder cases, including 116 (20.7%)structural abnormalities and 84 (15.0%) numerical abnormalities, while 82 cases have both structural and numerical abnormalities, accounting for 14.6%. The percentages of patients carrying chromosome abnormalities were in different types of hematopathies. The percentages

  13. Karyotype and cytogeography of the genus Heracleum (Apiaceae)in the Hengduan Mountains

    Institute of Scientific and Technical Information of China (English)

    Xian-Lan DENG; Xing-Jin HE; Wei-Lue HE; Yun-Dong GAO; Hai-Yan LIU; Yu-Cheng ZHANG

    2009-01-01

    In the present study, the karyotypes of 34 populations belonging to 11 species and one variety of Heracleum from the Hengduan Mountains in China were examined. Chromosome numbers and the karyotypes of three species (H. souliei, H. kingdoM, and H. wenchuanense) are reported for the first time, as are the karyotypes of H. moellendorffii and H. henryi (tetraploid). Populations of H. candicans, H. franchetii, and H. kingdoni in the Hengduan Mountains were found to consist of a mixture of diploid and tetraploid plants. Except for four species of Heracleum, namely H. candicans, H. franchetii, H. henryi, and H. kingdoni, which have both diploid and tetraploid karyotypes, all other species of Heracleum are were found to be diploid. All karyotypes were found to belong to the 2A type of Stebbins, with the exception ofH. candicans var. obtusifolium, which belongs to 2B, and H. hemsleyanum and H.franchetii (Mt. Dujuan, Daocheng, Sichuan, China), which belong to 1A. There was only a slight difference in the karyotype asymmetry index, which suggests a close kinship for species of Heracleum and that the entire phylogenetic development of Heracleum is relatively primitive. Species that exhibited advanced morphological features were also more advanced in karyotype structure, with the order ofkaryotype evolution being 1A→2A→2B. This phenomenon indicates that the species distributed in the Hengduan Mountains have not diverged completely and that the Hengduan Mountains are a relatively young and active area for the evolution ofHeracleum. Polyploidization in Heracleum may be an important evolutionary mechanisms for some species, generating diversity. The biological attributes, distribution range, and the geological history of the genus have all played a part in accelerating the evolution through polyploidization or aneuploidization. It is known that as the distribution latitude of Heracleum decreases from north to south, the chromosome number, ploidy level, and asymmetry structure

  14. Karyotypic similarities between two species of Rhamphichthys (Rhamphichthyidae, Gymnotiformes) from the Amazon basin.

    Science.gov (United States)

    da Silva, Patrícia Corrêa; Nagamachi, Cleusa Yoshiko; Silva, Danillo Dos Santos; Milhomem, Susana Suely Rodrigues; Cardoso, Adauto Lima; de Oliveira, Jonas Alves; Pieczarka, Julio Cesar

    2013-10-24

    The family Rhamphichthyidae includes three genera: Rhamphichthys Müller et Troschel, 1846, Gymnorhamphichthys M. M. Ellis, 1912 and Iracema Triques, 1996. From this family, only the species Rhamphichthys hanni Meinken, 1937 has had its karyotype described. Here, we describe the karyotypes of two additional Rhamphichthys species: Rhamphichthys marmoratus Castelnau, 1855 from the Reserva de Desenvolvimento Sustentável Mamirauá, Amazonas state and Rhamphichthys prope rostratus Linnaeus, 1766 from Pará state, both in Brazil. Our karyotypic analyses demonstrated that the diploid number is conserved for the genus (2n = 50), but the karyotypic formulas (KFs) differed between Rhamphichthys marmoratus (44m/sm+6a) and Rhamphichthys prope rostratus (42m/sm+8a). In both species, the constitutive heterochromatin (CH) was located in the centromeric region of most chromosomes. Large heterochromatic blocks were found on the long arms of pairs 4 and 14 in Rhamphichthys marmoratus and on chromosomes 3, 4 and 19 in Rhamphichthys prope rostratus, which also has a heteromorphism in chromosome pair 1. The CH was DAPI positive, indicating that it is rich in AT base pairs. The Nucleolus Organizer Region (NOR) showed staining at a single location in both species: the long arm of pair 1 in Rhamphichthys marmoratus and the long arm of pair 12 in Rhamphichthys prope rostratus, where it showed a size heteromorphism. CMA3 staining coincided with that of Ag-NOR, indicating that the ribosomal genes contain interspaced GC-rich sequences. FISH with an 18S rDNA probe confirmed that there is only one NOR site in each species. These results can be used as potential cytogenetic markers for fish populations, and comparative analysis of the karyotypes of Hypopygus Hoedman, 1962, Rhamphichthys and Steatogenys Boulenger, 1898 suggests that the first two genera diverged later that the third.

  15. Karyotypic similarities between two species of Rhamphichthys (Rhamphichthyidae, Gymnotiformes) from the Amazon basin

    Science.gov (United States)

    da Silva, Patrícia Corrêa; Nagamachi, Cleusa Yoshiko; Silva, Danillo dos Santos; Milhomem, Susana Suely Rodrigues; Cardoso, Adauto Lima; de Oliveira, Jonas Alves; Pieczarka, Julio Cesar

    2013-01-01

    Abstract The family Rhamphichthyidae includes three genera: Rhamphichthys Müller et Troschel, 1846, Gymnorhamphichthys M. M. Ellis, 1912 and Iracema Triques, 1996. From this family, only the species Rhamphichthys hanni Meinken, 1937 has had its karyotype described. Here, we describe the karyotypes of two additional Rhamphichthys species: Rhamphichthys marmoratus Castelnau, 1855 from the Reserva de Desenvolvimento Sustentável Mamirauá, Amazonas state and Rhamphichthys prope rostratus Linnaeus, 1766 from Pará state, both in Brazil. Our karyotypic analyses demonstrated that the diploid number is conserved for the genus (2n = 50), but the karyotypic formulas (KFs) differed between Rhamphichthys marmoratus (44m/sm+6a) and Rhamphichthys prope rostratus (42m/sm+8a). In both species, the constitutive heterochromatin (CH) was located in the centromeric region of most chromosomes. Large heterochromatic blocks were found on the long arms of pairs 4 and 14 in Rhamphichthys marmoratus and on chromosomes 3, 4 and 19 in Rhamphichthys prope rostratus, which also has a heteromorphism in chromosome pair 1. The CH was DAPI positive, indicating that it is rich in AT base pairs. The Nucleolus Organizer Region (NOR) showed staining at a single location in both species: the long arm of pair 1 in Rhamphichthys marmoratus and the long arm of pair 12 in Rhamphichthys prope rostratus, where it showed a size heteromorphism. CMA3 staining coincided with that of Ag-NOR, indicating that the ribosomal genes contain interspaced GC-rich sequences. FISH with an 18S rDNA probe confirmed that there is only one NOR site in each species. These results can be used as potential cytogenetic markers for fish populations, and comparative analysis of the karyotypes of Hypopygus Hoedman, 1962, Rhamphichthys and Steatogenys Boulenger, 1898 suggests that the first two genera diverged later that the third. PMID:24455102

  16. Analysis of the peripheral blood chromosomal karyotype from 780 genetic consultants%780例遗传咨询者外周血染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    朱蕊; 曾爱群; 杜晶春

    2016-01-01

    Objective To evaluate the role of peripheral blood chromosomal karyotype analysis in disease diag-nosis of chromosomal disorder. Methods The cytogenetic karyotype of peripheral blood derived from 780 genetic counseling cases were analyzed during January 2013 to August 2015. Results There were 30 cases of chromosomal ab-errations to be detected and the abnormal rate was 3.85%, including 12 cases of numeric aberrations and 18 cases of structural aberrations. In neonatal disorder group, developmental disorder group and infertile group, the main type of chromosomal aberrations was the numeric abnormality, and it was mainly structural abnormality in the abnormal gesta-tion and birth group. Conclusion The detection of the peripheral blood chromosomal karyotype may play an important role in the diagnosis of neonatal disorder, developmental disorder, infertility and abnormal gestation and birth.%目的:探讨外周血染色体核型分析在染色体病诊断中的价值。方法对2013年1月至2015年8月期间来我院进行遗传咨询的780例患者行外周血染色体核型分析。结果780例患者中共检出异常核型30例,异常核型检出率为3.85%,其中染色体数目异常12例,染色体结构异常18例,新生儿表现异常、生长发育异常和不孕不育中以染色体数目异常为主,不良孕产史中以染色体结构异常为主。结论外周血染色体核型分析对染色体病导致的新生儿表现异常、生长发育异常、不孕不育和不良孕产史等疾病的诊断具有重要价值。

  17. Communication and abnormal behaviour.

    Science.gov (United States)

    Crown, S

    1979-01-01

    In this paper the similarities between normal and abnormal behaviour are emphasized and selected aspects of communication, normal and aberrant, between persons are explored. Communication in a social system may be verbal or non-verbal: one person's actions cause a response in another person. This response may be cognitive, behavioural or physiological. Communication may be approached through the individual, the social situation or social interaction. Psychoanalysis approaches the individual in terms of the coded communications of psychoneurotic symptoms or psychotic behaviour; the humanist-existential approach is concerned more with emotional expression. Both approaches emphasize the development of individual identity. The interaction between persons and their social background is stressed. Relevant are sociological concepts such as illness behaviour, stigma, labelling, institutionalization and compliance. Two approaches to social interactions are considered: the gamesplaying metaphor, e.g. back pain as a psychosocial manipulation--the 'pain game'; and the 'spiral of reciprocal perspectives' which emphasizes the interactional complexities of social perceptions. Communicatory aspects of psychological treatments are noted: learning a particular metaphor such as 'resolution' of the problem (psychotherapy), learning more 'rewarding' behaviour (learning theory) or learning authenticity or self-actualization (humanist-existential).

  18. Somatically acquired structural genetic differences

    DEFF Research Database (Denmark)

    Magaard Koldby, Kristina; Nygaard, Marianne; Christensen, Kaare;

    2016-01-01

    Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested t...... with age.European Journal of Human Genetics advance online publication, 20 April 2016; doi:10.1038/ejhg.2016.34.......Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested...... that they may accumulate in elderly individuals. To further explore the presence and the age-related acquisition of somatic structural variants in the human genome, we investigated CNVs acquired over a period of 10 years in 86 elderly Danish twins as well as CNV discordances between co-twins of 18 monozygotic...

  19. Three new karyotypes extend a Robertsonian fan in Ethiopian spiny mice of the genus Acomys I. Geoffroy, 1838 (Mammalia, Rodentia).

    Science.gov (United States)

    Lavrenchenko, L A; Nadjafova, R S; Bulatova, N Sh

    2011-01-01

    Three new karyotypes (2n=40, 44, 52) are described revealing what are probably new cryptic species of Ethiopian spiny mice. Two other diploid numbers have already been reported for the country (2n=36 and 68) and, overall, the five known karyotypic forms constitute a common lineage differentiated by a Robertsonian process. Such arrays of karyotypic forms are known as a 'Robertsonian fan'. This view of the situation in Ethiopian Acomys I. Geoffroy, 1838 is based on standard chromosomal morphology that reveals a constant FN (68) and needs further investigation of chromosome homology by differential staining and/or molecular cytogenetic techniques as well as further molecular phylogenetic analysis.

  20. Analysis of chromosomal karyotyp in 69 patients with primary amenorrhea in Xiamen%厦门地区69例原发闭经患者的染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    刘芳; 史彩虹; 王厚照; 周友泉

    2012-01-01

    Objective To explore the distribution of abnormal chromosome karyotype in patients with primary amenorrhea in Xiamen area and its clinical signs and significance. Methods Karyotype analysis was performed by peripheral blood lymphocyte chromosomal culture techniques. Results In total 69 patients with primary amenorrhea, there were 28 cases of chromosomal abnormalities , abnormal detection rate was 40. 6% , of which the X chromosomes number abnormalities in 8 cases, accounting for 28. 6% ; number abnormalities and chimera in 6 cases, accounting for 21.4% ; structural abnormalities in 5 cases, accounting for 17.9% ; structural abnormalities and chimera in 3 cases, accounting for 10.7% ; chromosome inversion in 3 cases, accounting for 10.7% ; sex-reversed in 2 cases, accounting for 7.1 % ; autosomal translocation in 1 case, accounting for 3.6%. Conclusion Chromosomal abnormality is one of the major causes of primary amenorrhea, cytogenetic examination in primary amenorrhea patients is important to determine its causes and treatment options.%目的 探讨厦门地区原发性闭经患者各种异常染色体核型的分布情况及其有关临床体征和意义.方法 采用外周血淋巴细胞染色体培养技术进行染色体核型分析.结果 69例原发闭经患者共检出染色体异常28例,异常检出率为40.6%,其中X染色体数目异常8例,占28.6%;X染色体数目异常及嵌合体6例,占21.4%;X染色体结构异常5例,占17.9%;X染色体结构异常及嵌合体3例,占10.7%;染色体倒位3例,占10.7%;性反转2例,占7.1%;与常染色体易位1例,占3.6%.结论 染色体异常是导致原发性闭经的主要病因之一,对原发闭经患者进行细胞遗传学检查,对确定其病因及治疗方案具有重要意义.

  1. Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects.

    Science.gov (United States)

    Lv, Wei; Wang, Shuyu

    2014-11-01

    Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping of either amniotic fluid cell or umbilical cord blood cell samples. Fetuses with a normal result were then investigated for the 22q11 microdeletion by fluorescence in situ hybridization. Of the 113 patients, 12 (10.6%) exhibited chromosomal abnormalities, while 6 (5.3%) of the remaining 101 cases presented with a 22q11 microdeletion. The incidence of chromosomal abnormalities was significantly higher in the group of fetuses presenting with extracardiac malformations in addition to CHD (Pdefects, additional chromosomal analysis is required to detect extracardiac abnormalities. Fetuses with heart defects should also be considered for 22q11 microdeletion detection to evaluate fetal prognosis, particularly prior to surgery.

  2. 686例遗传咨询者的染色体核型分析%Chromosome karyotype analysis of 686 subjects attending genetic counseling

    Institute of Scientific and Technical Information of China (English)

    张月; 张光谋

    2016-01-01

    目的 分析686例遗传咨询者的染色体异常与疾病的关系.方法 采用外周血淋巴细胞培养方法常规制备染色体标本,G显带进行核型分析.结果 686例遗传咨询者中检测出染色体异常93例(13.56%),其中常染色体异常63例,占7.36%,性染色体异常30例,占3.50%.遗传咨询者常见病因有不良孕产史、习惯性流产、无精子、少精子和弱精子、原发或继发闭经史、智力低下、不孕不育症、先天畸形、第二性征异常等.结论 染色体异常是引起生育障碍和智力低下的主要原因,对高危人群进行染色体检查,对临床指导优生及提高人口素质具有重要意义.%Objective To investigate the relationship between the chromosomal abnormalities and disease in 686 subjects attending genetic counseling. Methods Chromosome specimens were prepared by culture of lymphocytes in peripheral blood. The karyotype analysis was carried out with G banding. Results Among the 686 subjects, 93 were detected with chromosomal abnormalities (13.56%), including 63 of autosomal abnormality (7.36%), 30 of chromosome abnormality (3.50%). The common causes of disease for the subjects were history of abnormal pregnancy, habitual abor-tion, azoospermia, oligozoospermia and asthenospermia, primary or secondary amenorrhea, mental retardation, infertili-ty, congenital malformation, and abnormality in secondary sex characteristics. Conclusion The chromosomal abnor-mality is a major cause of fertility disorder and mental retardation. For high-risk population, chromosome examination has important significance for guiding eugenics in clinical and improving population quality.

  3. 2068例胎儿染色体产前诊断结果分析%Analysis on prenatal diagnostic results of chromosome karyotypes in 2 068 fetuses

    Institute of Scientific and Technical Information of China (English)

    王岳平; 姜卫华; 郝明革; 任彦; 李诗强; 齐漫龙

    2009-01-01

    To explore the incidence of chromosomal diseases in fetuses by analyzing chromosome karyotypes on the high risk population of chromosomal diseases. Methods: 2 068 pregnant women with high risk of chromosomal diseases in their fetuses un-derwent amniocentesis or percutaneous umbilical blood sampling from September 2003 to September 2008, then karyotypes of their fetuses were analysed. Results: 68 fetuses were found chromosome abnormalities, the rate was 3.29%, including 44 fetuses of numerical abnor-mality and 19 fetuses of structural abnormality. Conclusion: Chromosomal karyotypos analysis on high risk population in the mid trimester of pregnancy is an important prenatal diagnosis method. Serum screening, B ultrasound screening and advanced maternal age are important measures to find fetus with chromosomal diseases.%目的:通过对妊娠中期染色体病高危胎儿进行染色体核型分析,对染色体病所致的畸形儿进行产前诊断,探讨胎儿染色体病的发生情况.方法:对2003年9月~2008年9月中国医科大学附属盛京医院2 068例染色体病高危孕妇进行羊膜腔穿刺或胎儿脐静脉穿刺,采取细胞培养,制备中期染色体,分析胎儿核型,进行产前诊断.结果:在2 068例胎儿染色体核型中,发现染色体异常68例,异常率为3.29%,其中数目异常41例,结构异常27例.结论:妊娠中期对染色体病高危胎儿进行羊水或脐血染色体核型分析是产前诊断的重要方法,孕母血清筛查、B超检查并结合孕妇高龄等是发现染色体病胎儿的重要措施.

  4. 获得性21三体恶性血液病的临床和细胞遗传学特征%Clinical and cytogenetic features of hematologic malignancies associated with acquired trisomy 21

    Institute of Scientific and Technical Information of China (English)

    王焕萍; 倪万茂; 陈志妹; 楼基余; 徐欢; 俞运彪; 钱文斌; 金洁

    2008-01-01

    目的 分析21三体恶性血液病患者的临床及细胞遗传学特点.方法 采用骨髓直接法和(或)培养法制备染色体标本,采用R显带技术进行核型分析,并进行临床随访.结果 共发现25例患者存在21三体,其中急性髓系白血病(acute myeloid leukemia,AML)13例,占同期进行染色体检查的AML患者总数的1.5%,包括M5h6例;急性淋巴细胞(acute lymphoblastic leukemia,ALL)8例,占同期进行染色体检查的ALL患者总数的2.2%,其它类型4例.25例中13例为单纯获得性21三体,其余病例均合并其它异常.随访的19例患者的中位生存期为9个月.结论 单纯21三体在AML中以M5b多见,伴21三体异常的恶性血液病预后还存在争议.%Objective To investigate the association between trisomy 21 abnormalities and the clinical and cytogenetie features of hematologic malignancies. Methods Chromosome preparations were made on bone marrow cells by using direct method and/or unstimulated short-term cultures. Karyotypes were analyzed by R-banding. Results Thirteen patients (1.5 % ) with acute myeloid leukemia (AML) including 6 cases of M5b,8 (2.2 % ) with acute lymphoblastie leukemia (ALL) and4 cases with other hematologic malignancies had aquired trisomy 21, and in 13 patients it oceurred as the sole eytogenetic abnormality. The remaining had combination with other abnormalities. The median survival for the 19 patients with trisomy 21 was 9 months. Conclusion M5b was the major type in AML with sole acquired trisomy 21. Trisomy 21 as the sole abnormality appeared to have a poor prognosis.

  5. Abnormal dicentric chromosome with co-amplification of sequences from chromosomes 11 and 19: a novel rearrangement in a patient with myelodysplastic syndrome transforming to acute myeloid leukemia.

    Science.gov (United States)

    Smith, A; Heaps, L S; Sharma, P; Jarvis, A; Forsyth, C

    2001-10-01

    A 66-year-old man with a myelodysplastic syndrome transforming to acute myeloid leukemia showed a complex abnormal karyotype on bone marrow aspirate. An unbalanced dicentric translocation with a very long der(11) long arm-dic(11;19)(q25;p13.4)-was present. Fluorescence in situ hybridization studies utilised paints for chromosomes 11 and 19 as well as the locus specific probe MLL, localised to 11q23. The abnormal chromosome 11q contained 6 copies of intact MLL and 6 copies of chromosome 19 (unidentified) sequences. To our knowledge, gene co-amplification of chromosomes 11 and 19 sequences has not been reported before.

  6. Systemic abnormalities in liver disease

    Institute of Scientific and Technical Information of China (English)

    Masami Minemura; Kazuto Tajiri; Yukihiro Shimizu

    2009-01-01

    Systemic abnormalities often occur in patients with liver disease. In particular, cardiopulmonary or renal diseases accompanied by advanced liver disease can be serious and may determine the quality of life and prognosis of patients. Therefore, both hepatologists and non-hepatologists should pay attention to such abnormalities in the management of patients with liver diseases.

  7. Abnormal pressure in hydrocarbon environments

    Science.gov (United States)

    Law, B.E.; Spencer, C.W.

    1998-01-01

    Abnormal pressures, pressures above or below hydrostatic pressures, occur on all continents in a wide range of geological conditions. According to a survey of published literature on abnormal pressures, compaction disequilibrium and hydrocarbon generation are the two most commonly cited causes of abnormally high pressure in petroleum provinces. In young (Tertiary) deltaic sequences, compaction disequilibrium is the dominant cause of abnormal pressure. In older (pre-Tertiary) lithified rocks, hydrocarbon generation, aquathermal expansion, and tectonics are most often cited as the causes of abnormal pressure. The association of abnormal pressures with hydrocarbon accumulations is statistically significant. Within abnormally pressured reservoirs, empirical evidence indicates that the bulk of economically recoverable oil and gas occurs in reservoirs with pressure gradients less than 0.75 psi/ft (17.4 kPa/m) and there is very little production potential from reservoirs that exceed 0.85 psi/ft (19.6 kPa/m). Abnormally pressured rocks are also commonly associated with unconventional gas accumulations where the pressuring phase is gas of either a thermal or microbial origin. In underpressured, thermally mature rocks, the affected reservoirs have most often experienced a significant cooling history and probably evolved from an originally overpressured system.

  8. Molecular investigation of a dicentric 13;17 chromosome found in a 21-week gestation fetus with multiple congenital abnormalities.

    Science.gov (United States)

    Cockwell, A E; Maloney, V K; Thomas, N S; Smith, E L; Gonda, P; Bass, P; Crolla, J A

    2006-01-01

    We report a 21-week gestation fetus terminated because of multiple congenital abnormalities seen on ultrasound scan, including ventriculomegaly, possible clefting of the hard palate, cervical hemivertebrae, micrognathia, abnormal heart, horseshoe kidney and a 2-vessel umbilical cord. On cytogenetic examination, the fetus was found to have a male karyotype with 45 chromosomes with a dicentric chromosome, which appeared to consist of the long arms of chromosomes 13 and 17. Molecular genetic investigations and fluorescence in situ hybridization (FISH) unexpectedly showed that the derivative chromosome contained two interstitial blocks of chromosome 17 short arm sequences, totalling approximately 7 Mb, between the two centromeres. This effectively made the fetus monosomic for approximately 15 Mb of 17p without the concurrent trisomy for another chromosome normally seen following malsegregation of reciprocal translocations. It also illustrates the complexity involved in the formation of some structurally abnormal chromosomes, which can only be resolved by detailed molecular investigations.

  9. Karyotypic Study on Paeonia anomala(Paeoniaceae )%Paeonia anomala的核型研究

    Institute of Scientific and Technical Information of China (English)

    潘锦; 张大明; 王超; 桑涛; 潘开玉; 洪德元

    2006-01-01

    报道了Paeonia anomala L.的核型,澄清了新疆阿尔泰地区分布的该物种的染色体数目.分布于该地区的Paeonia anomala L.的核型组成:2n=2x=10=6m+2sm+2st.该类群核型与该属其它类群一致-2A型.在综合比较分析该属染色体参数以及核型不均一性参数,包括最长/最短染色体比(L1/Ln)和染色体不对称系数(CKOA)的基础上,我们发现该属三个组在核型上没有明显分化,仅在木本类群(Sect.Moutan DC.)和草本类群(Sect.Onaepia Lindley和Sect.Paeonia)之间存在微小差异.此外,作为二倍体类群,新疆阿尔泰地区分布的Paeonia anomala L.很可能是二倍体杂种,这将为研究被子植物的父母本同倍化杂交式物种起源提供一个很好的研究材料.%This is the first report of the chromosome karyotype of P. anomala from the Altai populations. The populations sampled from the Altai region of Xinjiang, China, are diploid (2n= 10), with the 2A type karyotype and the karyotypic formula of 2n= 2x= 10=6m+ 2sm+ 2st. Based on karyotypic and asymmetric parameters, i. e., mean arm ratio, rario of longest/shortest chromosomes (L1/Ln ), coefficient of karyotypic overall asymmetry (CKOA), it was found that there was no apparent differentiation in karyotype features among all the three sections of the genus Paeonia, although some slight karyotypie differences were found between the woody section (Sect. Moutan DC. ) and the herbaceous sections (Sect. Onaepia Lindley and Sect. Paeonia). The diploid status of the P. anomala populations, revealed in this study,implies that the species, assumed as interspecific hybridization origin, may add to the handful examples of homoploid hybrid speciation in angiosperms.

  10. Meiotic studies of infertile men in case of non-obstructive azoospermia with normal karyotype and no microdeleted Y-chromosome precise the clinical couple management.

    Science.gov (United States)

    North, Marie-Odile; Lellei, Ilona; Erdei, Edit; Barbet, Jacques Patrick; Tritto, Joseph

    2004-01-01

    To identify meiotic criteria for infertility management in non-obstructive azoospermic men, a prospective and multicentric study was organized in Andrological Departments of Paris (France), Roma (Italy) and Budapest (Hungary). In 117 non-obstructive azoospermic men with normal karyotype and no Y-chromosome microdeletion, histology and meiotic studies on bilateral bipolar testicular biopsies were done. Histologically, 40 patients (34%) presented spermatocyte or spermatid arrest, 39 (33%) hypospermatogenesis whereas no meiotic cell could be observed in the remaining patients (33%). Cytogenetically, meiotic figures could only be obtained from the two first histological groups. Meiotic abnormalities were observed in a total of 44 patients (37.6%) including nine patients (7.7%) with severe class I and class IIB anomalies and 19 patients (16.2%) with class IIC environmentally linked meiotic abnormalities. These results provided essential clues for an accurate clinical management. For patients with no meiotic figures and patients with class I and class IIB anomalies, an hormonal stimulation is illusory and a sperm gift should be directly proposed. An hormonal stimulation should be proposed to all the other patients, either directly or following the treatment of the testicular microenvironment for the patients presenting class IIC anomalies. The genetic risk and possibility of prenatal chromosomal analysis in case of pregnancy should be clearly exposed to all the couples in all the cases where type IIA, III or IV anomalies are present. This therapeutical strategy has been applied to all the patients in our series.

  11. 胎儿先天性室间隔缺损的染色体核型分析%Study of chromosome karyotype in congenital ventricular septal defect of fetus

    Institute of Scientific and Technical Information of China (English)

    高金梅; 关云萍; 项宇识; 闫峰; 李冬梅

    2013-01-01

    目的:通过产前诊断分析先天性胎儿室间隔缺损与染色体核型的相关性。方法:回顾性分析我院产前超声诊断胎儿发育异常并进行脐静脉血穿刺染色体核型分析的患者387例,对其中单纯室间隔缺损或室间隔缺损伴发其他结构异常的病例74例进行分析。结果:74例病例中,脐血穿刺血细胞培养成功72例,培养失败2例。72例病例中,产前超声诊断单纯室间隔缺损12例,染色体核型结果均正常;产前超声诊断室间隔缺损伴发其他结构异常60例,其中染色体核型异常者17例(18-三8例、13-三体3例、21-三体4例、其他2例),染色体核型正常者43例。结论:胎儿心脏室间隔缺损伴发其他结构异常时较单纯室间隔缺损出现染色体异常的几率大。%Objective:To analyse the correlations between congenital ventricular septal defects and fetal karyotype through prenatal diagnosis.Methods:A retrospective analysis of 387 cases who diagnosed with fetal abnormalities and carried on umbilical vein puncture for karyotype analysis in our hospital through prenatal ultrasound diagnosis. among which, 74 cases with the ventricular septal defect or ventricular septal defect simply associated with other structural abnormalities were analyzed.Results:In the 74 cases, 72 cases were successful y cultured in the umbilical cord blood cells, 2 cases were cultured failure. 12 cases were diagnosed with ventricular septal defect simply in prenatal ultrasound diagnosis in the 72 cases, karyotype of the 12 cases were al normal; 60 cases were diagnosed with ventricular septal defect associated with other structural abnormalities in prenatal ultrasound diagnosisin the 72 cases, in which chromosome abnormalities were 17 cases (8 cases of 18-trisomy syndrome;3 cases of 13-trisomy syndrom;4 cases of 21-trisomy syndrom;2 cases of other chromosomal abnormalities), normal karyotype were 43 cases.Conclusion:Fetal cardiac

  12. Acquired aplastic anemia in children.

    Science.gov (United States)

    Hartung, Helge D; Olson, Timothy S; Bessler, Monica

    2013-12-01

    This article provides a practice-based and concise review of the etiology, diagnosis, and management of acquired aplastic anemia in children. Bone marrow transplantation, immunosuppressive therapy, and supportive care are discussed in detail. The aim is to provide the clinician with a better understanding of the disease and to offer guidelines for the management of children with this uncommon yet serious disorder.

  13. Chromosome karyotype analysis of amniotic fluid cells of 1 466 pregnant women in Yangzhou%扬州地区1466例孕妇羊水细胞染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    陈剑; 徐贵江

    2014-01-01

    Objective To explore the clinic value of chromosome karyotype analysis of amniotic fluid cells in prenatal diagnosis . Methods 1 466 cases of pregnant women who had the prenatal diagnosis indexes were selected ,and their amniotic fluid specimens were collected through amniocentesis guiding by type‐B ultrasonic around the 16th to 24th week .Amniotic fluid cells were gained after a successful cell culture .G banding was used for the karyotype analysis of amniotic fluid cells .Results The one‐time success rate of cultivation for amniotic fluid cells was 99 .8% .In 1 466 cases of pregnant women ,there were 16 cases of abnormal karyotype polymorphism (including 12 cases of trisomy 21 ,1 case of trisomy 18 ,and 3 cases of Chromosome abnormalities) and 3 cases of chromosomal polymorphism .Conclusion The chromosome karyotype analysis of amniotic fluid cell is still an irreplaceable test in prenatal diagnosis .%目的:探讨孕妇羊水细胞染色体核型分析在产前诊断中的临床应用价值。方法选择孕16~24周、具有产前诊断指征的孕妇1466例,在B超引导下行羊膜腔穿刺抽取羊水。经过羊水细胞培养增殖成功后收获细胞,G显带检查分析羊水细胞的染色体核型。结果羊水细胞一次性培养成功率为99.8%。1466例孕妇中,检出16例异常核型(其中12例21三体,1例18三体,3例染色体异常)和3例染色体多态性。结论羊水细胞染色体核型检查仍然是产前诊断中不可替代的手段。

  14. Karyotypic differences and evolutionary tendencies of some species from the subgenus Obliquodesmus Mlad. of genus Scenedesmus Meyen (Chlorophyta, Chlorococcales)

    Indian Academy of Sciences (India)

    Balik Dzhambazov; Rumen Mladenov; Ivanka Teneva; Detelina Belkinova

    2006-04-01

    Karyotype structures of Scenedesmus acuminatus (Lagerch.) Chod. and Scenedesmus pectinatus Meyen are compared. The karyotype of S. acuminatus ($n = 5$) is described for the first time. It reveals four large metacentric and one large submetacentric chromosomes (4M + 1SM). The established karyotype differences have been helpful in clarifying the taxonomic position of these two species. The cytological analyses of other related clonal cultures suggest an evolutionary transition from S. pectinatus towards S. regularis through S. pectinatus f. regularis, which correlates with the morphological data about their variability. These results are discussed from the cytogenetic, morphological and evolutionary point of view. On the basis of the karyotypic analysis, it was confirmed that from a taxonomic point of view S. pectinatus, S. acuminatus and S. regularis are separate biological species.

  15. M-FISH Karyotyping - A New Approach Based on Watershed Transform

    CERN Document Server

    Sreejini, K S; Govindan, V K

    2012-01-01

    Karyotyping is a process in which chromosomes in a dividing cell are properly stained, identified and displayed in a standard format, which helps geneticist to study and diagnose genetic factors behind various genetic diseases and for studying cancer. M-FISH (Multiplex Fluorescent In-Situ Hybridization) provides color karyotyping. In this paper, an automated method for M-FISH chromosome segmentation based on watershed transform followed by naive Bayes classification of each region using the features, mean and standard deviation, is presented. Also, a post processing step is added to re-classify the small chromosome segments to the neighboring larger segment for reducing the chances of misclassification. The approach provided improved accuracy when compared to the pixel-by-pixel approach. The approach was tested on 40 images from the dataset and achieved an accuracy of 84.21 %.

  16. A comparative study of the karyotypes of Tilapia rendalli, T. sparrmanii and Oreochromis mossambicus (Cichlidae

    Directory of Open Access Journals (Sweden)

    A. Swanepoel

    1992-07-01

    Full Text Available Optimal chromosome preparations were obtained from stimulated lymphocyte cultures with a new method based on a combination and modification of several techniques. Tilapia rendalli, T. sparrmanii and Oreochromis mossambicus have somatic chromosome numbers of 44, 42 and 44, respectively. Chromosome pairs L1 and L2 are easily identified in all the karyotypes and distinctive of the tilapias. Tilapia sparrmanii has one additional large metacentric chromosome pair(L3, which occurs concurrently with the reduction of two in the total chromosome number. The F chromosomes were divided into two groups, viz a submetacentric (sm and a telocentric (t group. T. rendalli has 8 sm chromosomes, while both T. sparrmanii and O. mossambicus have 6 chromosomes in the sm group. The rest of the F chromosomes were telocentric. The identification of the sex chromosomes in the karyotypes of tilapia has thus far not been possible using standard techniques.

  17. Donkey genome and insight into the imprinting of fast karyotype evolution.

    Science.gov (United States)

    Huang, Jinlong; Zhao, Yiping; Bai, Dongyi; Shiraigol, Wunierfu; Li, Bei; Yang, Lihua; Wu, Jing; Bao, Wuyundalai; Ren, Xiujuan; Jin, Burenqiqige; Zhao, Qinan; Li, Anaer; Bao, Sarula; Bao, Wuyingga; Xing, Zhencun; An, Aoruga; Gao, Yahan; Wei, Ruiyuan; Bao, Yirugeletu; Bao, Taoketao; Han, Haige; Bai, Haitang; Bao, Yanqing; Zhang, Yuhong; Daidiikhuu, Dorjsuren; Zhao, Wenjing; Liu, Shuyun; Ding, Jinmei; Ye, Weixing; Ding, Fangmei; Sun, Zikui; Shi, Yixiang; Zhang, Yan; Meng, He; Dugarjaviin, Manglai

    2015-09-16

    The donkey, like the horse, is a promising model for exploring karyotypic instability. We report the de novo whole-genome assemblies of the donkey and the Asiatic wild ass. Our results reflect the distinct characteristics of donkeys, including more effective energy metabolism and better immunity than horses. The donkey shows a steady demographic trajectory. We detected abundant satellite sequences in some inactive centromere regions but not in neocentromere regions, while ribosomal RNAs frequently emerged in neocentromere regions but not in the obsolete centromere regions. Expanded miRNA families and five newly discovered miRNA target genes involved in meiosis may be associated with fast karyotype evolution. APC/C, controlling sister chromatid segregation, cytokinesis, and the establishment of the G1 cell cycle phase were identified by analysis of miRNA targets and rapidly evolving genes.

  18. Double minute chromosomes in acute myeloid leukemia, myelodysplastic syndromes, and chronic myelomonocytic leukemia are associated with micronuclei, MYC or MLL amplification, and complex karyotype.

    Science.gov (United States)

    Huh, Yang O; Tang, Guilin; Talwalkar, Sameer S; Khoury, Joseph D; Ohanian, Maro; Bueso-Ramos, Carlos E; Abruzzo, Lynne V

    2016-01-01

    Double minute chromosomes (dmin) are small, paired chromatin bodies that lack a centromere and represent a form of extrachromosomal gene amplification. Dmin are rare in myeloid neoplasms and are generally associated with a poor prognosis. Most studies of dmin in myeloid neoplasms are case reports or small series. In the current study, we present the clinicopathologic and cytogenetic features of 22 patients with myeloid neoplasms harboring dmin. These neoplasms included acute myeloid leukemia (AML) (n = 18), myelodysplastic syndrome (MDS) (n = 3), and chronic myelomonocytic leukemia (CMML) (n = 1). The AML cases consisted of AML with myelodysplasia-related changes (n = 13) and therapy-related AML (n = 5). Dmin were detected in initial pre-therapy samples in 14 patients with AML or CMML; they were acquired during the disease course in 8 patients who had AML or MDS. The presence of dmin was associated with micronuclei (18/18; 100%), complex karyotype (17/22; 77.3%), and amplification of MYC (12/16; 75%) or MLL (4/16; 25%). Immunohistochemical staining for MYC performed on bone marrow core biopsy or clot sections revealed increased MYC protein in all 19 cases tested. Except for one patient, most patients failed to respond to risk-adapted chemotherapies. At last follow up, all patients had died of disease after a median of 5 months following dmin detection. In conclusion, dmin in myeloid neoplasms commonly harbor MYC or MLL gene amplification and manifest as micronuclei within leukemic blasts. Dmin are often associated with myelodysplasia or therapy-related disease, and complex karyotypes.

  19. Comparative karyotype analysis of populations in the Alstroemeria presliana Herbert (Alstroemeriaceae) complex in Chile.

    Science.gov (United States)

    Baeza, Carlos; Finot, Víctor L; Ruiz, Eduardo

    2015-05-01

    Alstroemeria L., one of the most diverse genera of the Chilean flora and of high floricultural value, is represented by 35 species, most of them distributed between 28-38° S in the Mediterranean zone of Central Chile. There are 24 complex-forming taxa, of which 18 have conservation problems (8 are considered "endangered" and 10 as "vulnerable"). One of these complexes is Alstroemeria presliana Herb. with two subspecies: subsp. presliana and subsp. australis Bayer. Alstroemeria presliana grows in Chile and Argentina: subsp. presliana is distributed from Reserva Nacional Siete Tazas (35°27' S, Region of Maule) to Antuco, (37°25' S, Region of Bío-Bío), and is also found in Neuquén, Argentina; subsp. australis is endemic to the Cordillera of Nahuelbuta. A comparative karyotype study was carried out among six populations of A. presliana subsp. presliana and five populations of A. presliana subsp. australis. The eleven populations presented an asymmetric karyotype, with 2n = 2× = 16 chromosomes but with different karyotype formulae. A. presliana subsp. presliana shows the haploid formula 2m + 2m-sat + 1sm-sat + 1st-sat + 1t + 1 t-sat, and A. preslianasubsp. australis presents a formula 1m + 2m-sat + 1sm + 2t + 2t-sat chromosomes. The architecture of the karyotype between the subspecies is very different. The scatter plot among CVCL vs. MCA shows different groupings between populations of the two subspecies. According to the results obtained it is possible to consider raising Alstroemeria presliana subsp. australis at species level.

  20. Comparative karyotype analysis of populations in the Alstroemeria presliana Herbert (Alstroemeriaceae complex in Chile

    Directory of Open Access Journals (Sweden)

    Carlos Baeza

    2015-06-01

    Full Text Available Alstroemeria L., one of the most diverse genera of the Chilean flora and of high floricultural value, is represented by 35 species, most of them distributed between 28–38° S in the Mediterranean zone of Central Chile. There are 24 complex-forming taxa, of which 18 have conservation problems (8 are considered “endangered” and 10 as “vulnerable”. One of these complexes is Alstroemeria presliana Herb. with two subspecies: subsp. presliana and subsp. australis Bayer. Alstroemeria presliana grows in Chile and Argentina: subsp. presliana is distributed from Reserva Nacional Siete Tazas (35°27′ S, Region of Maule to Antuco, (37°25′ S, Region of Bío-Bío, and is also found in Neuquén, Argentina; subsp. australis is endemic to the Cordillera of Nahuelbuta. A comparative karyotype study was carried out among six populations of A. presliana subsp. presliana and five populations of A. presliana subsp. australis. The eleven populations presented an asymmetric karyotype, with 2n = 2× = 16 chromosomes but with different karyotype formulae. A. presliana subsp. presliana shows the haploid formula 2m + 2m-sat + 1sm-sat + 1st-sat + 1t + 1 t-sat, and A. presliana subsp. australis presents a formula 1m + 2m-sat + 1sm + 2t + 2t-sat chromosomes. The architecture of the karyotype between the subspecies is very different. The scatter plot among CVCL vs. MCA shows different groupings between populations of the two subspecies. According to the results obtained it is possible to consider raising Alstroemeria presliana subsp. australis at species level.

  1. Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes.

    Science.gov (United States)

    Wuttikonsammakit, Piyawadee; Tanawattanacharoen, Somchai; Uerpairojkit, Boonchai

    2010-02-01

    We report the case of a 13-year-old woman who was pregnant with phenotypically discordant monochorionic twins: one with cystic hygroma and hydrops, the other one normal. Fetal blood sampling was performed by intrahepatic blood collection for karyotyping of both fetuses, revealing the same genotype of 46,XY/47,XYY in 2:1 proportion. Phenotypic discordance in monozygotic twins can have various causes, such as placental vascular anatomy, differences in allocation of the number of blastomeres or genetic postzygotic events.

  2. Karyotype variation in cultivars and spontaneous cocoa mutants (Theobroma cacao L.).

    Science.gov (United States)

    Figueiredo, G S F; Melo, C A F; Souza, M M; Araújo, I S; Zaidan, H A; Pires, J L; Ahnert, D

    2013-10-18

    Four mutant cocoa accessions with morphological changes and a cultivar sample were karyomorphologically characterized. Slides were prepared by enzymatic digestion of the root meristem and squashed in 45% acetic acid, followed by 2% Giemsa staining. The chromosome number of 2n = 20 was seen in all accessions. The karyotype formula for Cacau Comum and Cacau Rui was 2n = 20m. Submetacentric chromosomes were observed in Cacau Pucala and Cacau Jaca, both with 2n = 18m + 2sm, but the karyotype formula for Cacau Sem Vidro was 2n = 16m + 4sm. Satellites were located on the long arm of the 1st and 2nd chromosome pairs of Cacau Comum, whereas Cacau Pucala had satellites on the 6th chromosome pair. Greater karyotypic variation in Cacau Sem Vidro was found, whose 1st and 2nd chromosome pairs had satellites on the long arm and 6th and 10th pairs had satellites on the short arm. Analysis revealed a lower average chromosome length in Cacau Comum (1.53 ± 0.026 µm) and a higher length in Cacau Sem Vidro (2.26 ± 0.038 µm). ANOVA revealed significant difference (P < 0.01) for the average chromosome length and the length of chromosome pairs within and between accessions. The average chromosome lengths of mutants of Cacau Rui and Cacau Jaca were not statistically different by the Tukey test at 5% probability. The karyotypic diversity observed in this study is not necessarily associated with the changing character of the accessions analyzed, but may reflect the genetic variation observed in Theobroma cacao.

  3. A Case of Ullrich-Turner Syndrome with 45,X/46,XY Karyotype

    OpenAIRE

    Yüce, Hüseyin; AKIN, Haluk; ETEM, Ebru; DEVECİ, Şükriye DERYA

    2004-01-01

    The presence of mosaic 45,X/46,XY is a very rare chromosomal anomaly, with an incidence of about 1.5 per 10.000 in newborn infants and in midtrimester amniocentesis. The phenotype can vary from a normal male to a classical Ullrich-Turner syndrome (UTS). This patients are often infertile. The proposita presented at short stature, primary amenorrhea and hypoplasic uterus. Clinical examination revealed multiple Turner syndrome stigmata. Proposita karyotype was determined as 45,X/46,XY by cytogen...

  4. Monosomal karyotype among adult acute myeloid leukemia: clinical characteristic and prognostic analysis

    Institute of Scientific and Technical Information of China (English)

    冯茹

    2014-01-01

    Objective To explore the clinical characteristics and prognostic value of monosomal karyotype(MK)patients in adult acute myeloid leukemia(AML).Methods We retrospectively studied 45 patients of MK+in newly-diagnosed adult AML in our center from Oct 2000 to Dec2012.Clinical characteristics,cytogenetic data and prognostic features were analyzed in the cohort of MK+patients.Results MK was found in 45 patients(19.0%)

  5. Recidivous offence in sadistic homosexual pedophile with karyotype 48, XXXY after testicular pulpectomy. A case report.

    Science.gov (United States)

    Lachman, M; Brzek, A; Mellan, J; Hampl, R; Starka, L; Motlik, K

    1991-01-01

    The case of recidivous sexual offender with genetically caused mental retardation and primary hypogonadism (Klinefelter's syndrome with karyotype 48, XXXY) is described. He was examined after sadistic abuse of a boy aged 13 that he had committed 19 years after performed testicular pulpectomy. Plasmatic level of testosterone was found 4x higher than mean level in men after orchidectomy. Histological examination of residual scrotal tissues proved that the source of androgens were hyperplastic nodules of extratesticular Leydig cells.

  6. Study of the relationship between chromosome abnormality and infertility%不孕不育患者染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    黄鑫; 张磊; 郭云霄; 赵跃然

    2016-01-01

    Objective:To explore the relationship between chromosome abnormalities and infertility ,in order to provide evidence for the prevention and treatment of clinical infertility .Methods:Peripheral blood lymphocytes from 743 cases of infertile patients were cultured ,and chromosome karyotype was examined by showing chromosome bands using G analysis combined with C and N analysis .Results:A total of 743 patients were tested in the study ,140 patients detected with abnormal chromosome karyotype ,the detection rate was 18 .84% .Among them ,there were 115 cases of chromosome polymorphism , accounting for 82 .14% of the abnormal karyotype (115/140);9 cases of chromosomal translocation ,accounting for 6 .43% of the abnormal karyotype (9/140);6 cases of Turner syndrome (including 45 ,X ,one case;chimaera ,4 cases;46 ,X ,del (X) (P11) ,one case) ,accounting for 4 .29% of the abnormal karyotype (6/140);3 cases of Klinefelter syndrome ,accounting for 2 .14% of the abnormal karyotype (3/140);2 cases of chromosome insertion ,accounting for 1 .43% of the abnormal karyotype (2/140);2 cases of trisomy 21 syndrome ,accounting for 1 .43% of the abnormal karyotype (2/140);1 case of super‐female syndrome ,accounting for 0 .71% of the abnormal karyotype (1/140);1 case of androgen‐insensitivity syndrome ,accounting for 0 .71% of abnormal karyotype (1/140) .Generally ,one case was first reported in the world ,and 8 cases were first reported in China .Conclusions:Chromosome abnormality is an important factor that leads to infertility .It is important to carry out the analysis of karyotype in infertile patients .%目的:分析与不孕不育患者染色体核型,为临床不孕不育症的预防及治疗提供参考。方法:采集743例不孕不育患者的外周血常规进行淋巴细胞培养,G显带,必要时配合C显带、N显带,进行染色体核型分析。结果:743例就诊患者中,共检测出异常染色体核型140例,检出率为18.84

  7. Imaging findings of sternal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Franquet, T. [Dept. of Radiology, Hospital de Sant Pau, Universidad Autonoma de Barcelona (Spain); Gimenez, A. [Dept. of Radiology, Hospital de Sant Pau, Universidad Autonoma de Barcelona (Spain); Alegret, X. [Dept. of Radiology, Hospital de Sant Pau, Universidad Autonoma de Barcelona (Spain); Sanchis, E. [Dept. of Radiology, Hospital de Sant Pau, Universidad Autonoma de Barcelona (Spain); Rivas, A. [Dept. of Radiology, Hospital Vall d`Hebron, Universidad Autonoma de Barcelona (Spain)

    1997-05-01

    Radiographic findings in the sternal abnormalities are often nonspecific, showing appearances from a localized benign lesion to an aggressive lesion as seen with infections and malignant neoplasms. A specific diagnosis of sternal abnormalities can be suggested on the basis of CT and MR characteristics. Familiarity with the presentation and variable appearance of sternal abnormalities may aid the radiologist is suggesting a specific diagnosis. We present among others characteristic radiographic findings of hemangioma, chondrosarcoma, hydatid disease, and SAPHO syndrome. In those cases in which findings are not specific, cross-sectional imaging modalities may help the clinician in their management. (orig.)

  8. Karyotype Patterns of Hypsolebias antenori (Cyprinodontiformes: Rivulidae: An Endangered Killifish of the Semiarid Region of Brazil

    Directory of Open Access Journals (Sweden)

    Wallace Silva do Nascimento

    2014-01-01

    Full Text Available Annual fish which belong to the order Cyprinodontiformes constitute an excellent model for evolutionary studies. their short life cycle, distribution in ecologically dynamic environments, and low agility make them favorable for genetic analyses. The species Hypsolebias antenori (Rivulidae, encountered in seasonal pools located in the semiarid region of Northeastern Brazil, has been the object of surveys with a view to study its ecological and behavioral aspects. This study reports on the karyotype patterns of this species, which represents the first contribution to the cytogenetics of this genus. The karyotype of this species is composed of 2n = 48 chromosomes (6m + 4sm + 36st; NF = 96; the heterochromatic regions are located in centromeric or pericentromeric position and are more pronounced in the nucleolar organizer regions. Two sites Ag-NORs/CMA+/DAPI were identified in the short arms of pairs 2 (metacentric and 21 (subtelocentric. Unlike the other species of this family which show an evolution modulated by events of centric fusions, H. antenori shows the maintenance of a basal diploid number and the large number of bibrachial elements indicates karyotypic diversification derived by pericentric inversions. Cytogenetic analyzes in this species will provide new taxonomic markers capable of being utilized in conservation issues and systematics.

  9. Karyotypes, heterochromatin, and physical mapping of 18S-26S rDNA in Cactaceae.

    Science.gov (United States)

    Las Peñas, M L; Urdampilleta, J D; Bernardello, G; Forni-Martins, E R

    2009-01-01

    Karyotype analyses in members of the four Cactaceae subfamilies were performed. Numbers and karyotype formula obtained were: Pereskioideae = Pereskiaaculeata(2n = 22; 10 m + 1 sm), Maihuenioideae = Maihuenia patagonica (2n = 22, 9 m + 2 sm; 2n = 44, 18 m + 4 sm), Opuntioideae = Cumulopuntia recurvata(2n = 44; 20 m + 2 sm), Cactoideae = Acanthocalycium spiniflorum (2n = 22; 10 m + 1 sm),Echinopsis tubiflora (2n = 22; 10 m + 1 sm), Trichocereus candicans (2n = 22, 22 m). Chromosomes were small, the average chromosome length was 2.3 mum. Diploid species and the tetraploid C. recurvata had one terminal satellite, whereas the remaining tetraploid species showed four satellited chromosomes. Karyotypes were symmetrical. No CMA(-)/DAPI(+) bands were detected, but CMA(+)/DAPI(-) bands associated with NOR were always found. Pericentromeric heterochromatin was found in C. recurvata, A. spiniflorum, and the tetraploid cytotype of M. patagonica. The locations of the 18S-26S rDNA sites in all species coincided with CMA(+)/DAPI(-) bands; the same occurred with the sizes and numbers of signals for each species. This technique was applied for the first time in metaphase chromosomes in cacti. NOR-bearing pair no.1 may be homeologous in all species examined. In Cactaceae, the 18S-26S loci seem to be highly conserved.

  10. Morphological and karyotypic differences within and among populations of Radopholus similis

    Directory of Open Access Journals (Sweden)

    Chunling Xu

    2014-10-01

    Full Text Available Twenty populations of Radopholus similis from three countries and different hosts (19 populations from ornamental plants and one population from ginger were compared using morphological characters, morphometrics and karyotype between progeny from both single females and 30 females of each population. Morphological diversity existed in and among the populations, even within the progeny nematodes from single nematodes compared to that of 30 females. The labial disc shape, the number of head annuli, the terminated position of lateral lips, the number of genital papillae before cloacal apertures and female and male tail terminal shape showed variation. In addition, genital papillae arranged in a double row before cloacal apertures was first found in two ornamental populations. The karyotype of all the 20 populations was n = 5. Combining our results and previous studies, we support that R. citrophilus is a synonym of R. similis, and that it is not possible to distinguish physiological races or pathotypes of R. similis according to morphological characters or karyotype.

  11. Nursing home-acquired pneumonia.

    Science.gov (United States)

    El Solh, Ali A

    2009-02-01

    Nursing home-acquired pneumonia (NHAP) was first described in 1978. Since then there has been much written regarding NHAP and its management despite the lack of well-designed studies in this patient population. The most characteristic features of patients with NHAP are the atypical presentation, which may lead to delay in diagnosis and therapy. The microbial etiology of pneumonia encompasses a wide spectrum that spans microbes recovered from patients with community-acquired pneumonia to organisms considered specific only to nosocomial settings. Decision to transfer a nursing home patient to an acute care facility depends on a host of factors, which include the level of staffing available at the nursing home, patients' advance directives, and complexity of treatment. The presence of risk factors for multidrug-resistant pathogens dictates approach to therapy. Prevention remains the cornerstone of reducing the incidence of disease. Despite the advance in medical services, mortality from NHAP remains high.

  12. Occupationally Acquired American Cutaneous Leishmaniasis

    Directory of Open Access Journals (Sweden)

    Maria Edileuza Felinto de Brito

    2012-01-01

    Full Text Available We report two occupationally acquired cases of American cutaneous leishmaniasis (ACL: one accidental laboratory autoinoculation by contaminated needlestick while handling an ACL lesion sample, and one acquired during field studies on bird biology. Polymerase chain reaction (PCR assays of patient lesions were positive for Leishmania, subgenus Viannia. One isolate was obtained by culture (from patient 2 biopsy samples and characterized as Leishmania (Viannia naiffi through an indirect immunofluorescence assay (IFA with species-specific monoclonal antibodies (mAbs and by multilocus enzyme electrophoresis (MLEE. Patients were successfully treated with N-methyl-glucamine. These two cases highlight the potential risks of laboratory and field work and the need to comply with strict biosafety procedures in daily routines. The swab collection method, coupled with PCR detection, has greatly improved ACL laboratory diagnosis.

  13. CNOOC Acquires Oversea Assets Successfully

    Institute of Scientific and Technical Information of China (English)

    Hu Senlin

    2006-01-01

    @@ After last year CNOOC's bidding for buy the US energy company Unocal Corp lost out to the Chevron Corporation, it conducted the crossing-border asset-acquirement again in the beginning of this year. On Jan. 9, 2006,CNOOC Ltd signed a definitive agreement with Nigeria South Atlantic Petroleum Limited (SAPETRO) to acquire a 45 % working interest in an offshore oil developing license OML 130 in Nigeria for US$2.268 billion cash. The purchase will be funded by the internal capital resources of CNOOC Ltd. In which, US$1.75 billion will pay for buying SAPETRO, and the remaining cash will be used to pay for the early operation cost.

  14. [Acquired disorders of color vision].

    Science.gov (United States)

    Lascu, Lidia; Balaş, Mihaela

    2002-01-01

    This article is a general view of acquired disorders of color vision. The revision of the best known methods and of the etiopathogenic classification is not very important in ophthalmology but on the other hand, the detection of the blue defect advertise and associated ocular pathology. There is a major interest in serious diseases as multiple sclerosis, AIDS, diabetes melitus, when the first ocular sign can be a defect in the color vision.

  15. Skin - abnormally dark or light

    Science.gov (United States)

    ... ency/article/003242.htm Skin - abnormally dark or light To use the sharing features on this page, ... the hands. The bronze color can range from light to dark (in fair-skinned people) with the ...

  16. Pregnancy Complications: Umbilical Cord Abnormalities

    Science.gov (United States)

    ... defects. These tests may include a detailed ultrasound, amniocentesis (to check for chromosomal abnormalities) and in some ... the provider may recommend additional tests, such as amniocentesis and a detailed ultrasound, to diagnose or rule ...

  17. Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA.

    Science.gov (United States)

    Yin, Ai-hua; Peng, Chun-fang; Zhao, Xin; Caughey, Bennett A; Yang, Jie-xia; Liu, Jian; Huang, Wei-wei; Liu, Chang; Luo, Dong-hong; Liu, Hai-liang; Chen, Yang-yi; Wu, Jing; Hou, Rui; Zhang, Mindy; Ai, Michael; Zheng, Lianghong; Xue, Rachel Q; Mai, Ming-qin; Guo, Fang-fang; Qi, Yi-ming; Wang, Dong-mei; Krawczyk, Michal; Zhang, Daniel; Wang, Yu-nan; Huang, Quan-fei; Karin, Michael; Zhang, Kang

    2015-11-24

    Noninvasive prenatal testing (NIPT) using sequencing of fetal cell-free DNA from maternal plasma has enabled accurate prenatal diagnosis of aneuploidy and become increasingly accepted in clinical practice. We investigated whether NIPT using semiconductor sequencing platform (SSP) could reliably detect subchromosomal deletions/duplications in women carrying high-risk fetuses. We first showed that increasing concentration of abnormal DNA and sequencing depth improved detection. Subsequently, we analyzed plasma from 1,456 pregnant women to develop a method for estimating fetal DNA concentration based on the size distribution of DNA fragments. Finally, we collected plasma from 1,476 pregnant women with fetal structural abnormalities detected on ultrasound who also underwent an invasive diagnostic procedure. We used SSP of maternal plasma DNA to detect subchromosomal abnormalities and validated our results with array comparative genomic hybridization (aCGH). With 3.5 million reads, SSP detected 56 of 78 (71.8%) subchromosomal abnormalities detected by aCGH. With increased sequencing depth up to 10 million reads and restriction of the size of abnormalities to more than 1 Mb, sensitivity improved to 69 of 73 (94.5%). Of 55 false-positive samples, 35 were caused by deletions/duplications present in maternal DNA, indicating the necessity of a validation test to exclude maternal karyotype abnormalities. This study shows that detection of fetal subchromosomal abnormalities is a viable extension of NIPT based on SSP. Although we focused on the application of cell-free DNA sequencing for NIPT, we believe that this method has broader applications for genetic diagnosis, such as analysis of circulating tumor DNA for detection of cancer.

  18. Comparison of I-FISH and G-banding for the detection of chromosomal abnormalities during the evolution of myelodysplastic syndrome

    Directory of Open Access Journals (Sweden)

    R.F. Pinheiro

    2009-11-01

    Full Text Available Myelodysplastic syndrome (MDS patients with a normal karyotype constitute a heterogeneous group from a biological standpoint and their outcome is often unpredictable. Interphase fluorescence in situ hybridization (I-FISH studies could increase the rate of detection of abnormalities, but previous reports in the literature have been contradictory. We performed I-FISH and conventional karyotyping (G-banding on 50 MDS patients at diagnosis, after 6 and 12 months or at any time if a transformation to acute myeloid leukemia (AML was detected. Applying a probe-panel targeting the centromere of chromosomes 7 and 8, 5q31, 5p15.2 and 7q31, we observed one case with 5q deletion not identified by G-banding. I-FISH at 6 and 12 months confirmed the karyotype results. Eight cases transformed to AML during follow-up, but no hidden clone was detected by I-FISH in any of them. The inclusion of I-FISH during follow-up of MDS resulted in a small improvement in abnormality detection when compared with conventional G-banding.

  19. Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

    Directory of Open Access Journals (Sweden)

    Amy L. Shackelford

    2013-01-01

    Full Text Available We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome. A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was mosaic for both a normal karyotype and a cell line with 12p duplication/triplication in 25 percent of metaphase cells. Utilization of fluorescence in situ hybridization (FISH identified three copies of probes from the end of the short arm of chromosome 12 (TEL(12p13 locus and the subtelomere (12p terminal on the structurally abnormal chromosome 12. Genome-wide SNP array analysis revealed that the regions of duplication and triplication were of maternal origin. The abnormal cell line in our patient was present at 25 percent at six months and 19 months of age in both metaphase and interphase cells from peripheral blood, where typically the isochromosome 12p is absent in the newborn. This may suggest that the gene(s resulting in a growth disadvantage of abnormal cells in peripheral blood of patients with tetrasomy 12p may not have the same influence when present in only three copies.

  20. Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

    Science.gov (United States)

    Shackelford, Amy L.; Conlin, Laura K.; Spinner, Nancy B.; Wenger, Sharon L.

    2013-01-01

    We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome. A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was mosaic for both a normal karyotype and a cell line with 12p duplication/triplication in 25 percent of metaphase cells. Utilization of fluorescence in situ hybridization (FISH) identified three copies of probes from the end of the short arm of chromosome 12 (TEL(12p13) locus and the subtelomere (12p terminal)) on the structurally abnormal chromosome 12. Genome-wide SNP array analysis revealed that the regions of duplication and triplication were of maternal origin. The abnormal cell line in our patient was present at 25 percent at six months and 19 months of age in both metaphase and interphase cells from peripheral blood, where typically the isochromosome 12p is absent in the newborn. This may suggest that the gene(s) resulting in a growth disadvantage of abnormal cells in peripheral blood of patients with tetrasomy 12p may not have the same influence when present in only three copies. PMID:24151566

  1. [Diagnosticum of abnormalities of plant meiotic division].

    Science.gov (United States)

    Shamina, N V

    2006-01-01

    Abnormalities of plant meiotic division leading to abnormal meiotic products are summarized schematically in the paper. Causes of formation of monads, abnormal diads, triads, pentads, polyads, etc. have been observed in meiosis with both successive and simultaneous cytokinesis.

  2. Memetics clarification of abnormal behavior

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    AIM: Biological medicine is hard to fully and scientifically explain the etiological factor and pathogenesis of abnormal behaviors; while, researches on philosophy and psychology (including memetics) are beneficial to better understand and explain etiological factor and pathogenesis of abnormal behaviors. At present, the theory of philosophy and psychology is to investigate the entity of abnormal behavior based on the views of memetics.METHODS: Abnormal behavior was researched in this study based on three aspects, including instinctive behavior disorder, poorly social-adapted behavior disorder and mental or body disease associated behavior disorder. Most main viewpoints of memetics were derived from "The Meme Machine", which was written by Susan Blackmore. When questions about abnormal behaviors induced by mental and psychological diseases and conduct disorder of teenagers were discussed, some researching achievements which were summarized by authors previously were added in this study, such as aggressive behaviors, pathologically aggressive behaviors, etc.RESULTS: The abnormal behaviors mainly referred to a part of people's substandard behaviors which were not according with the realistic social environment, culture background and the pathologic behaviors resulted from people's various psychological diseases. According to the theory of "meme", it demonstrated that the relevant behavioral obstacles of various psychological diseases, for example, the unusual behavior of schizophrenia, were caused, because the old meme was destroyed thoroughly but the new meme was unable to establish; psychoneurosis and personality disorder were resulted in hard establishment of meme; the behavioral obstacles which were ill-adapted to society, for example, various additional and homosexual behaviors, were because of the selfish replications and imitations of "additional meme" and "homosexual meme"; various instinct behavioral and congenital intelligent obstacles were not significance

  3. Systemic abnormalities associated with retinal vein occlusion in young patients

    Science.gov (United States)

    Sinawat, Suthasinee; Bunyavee, Chavisa; Ratanapakorn, Tanapat; Sinawat, Supat; Laovirojjanakul, Wipada; Yospaiboon, Yosanan

    2017-01-01

    Objectives To study the systemic abnormalities associated with retinal vein occlusion in patients aged ≤50 years with a particular emphasis on atherosclerotic diseases and thrombophilic disorders. Methods Medical charts of patients, aged ≤50 years whose diagnoses were retinal vein occlusions during the period 1995–2015 were retrospectively reviewed. The primary outcome was the number of systemic abnormalities associated with these patients. Secondary outcomes included types of retinal vein occlusion and sites of occlusion. Results Atherosclerotic diseases were the most common systemic abnormalities associated with retinal vein occlusion and accounted for 55.1% of the patients in the study. Hypertension in 27.55%, diabetes mellitus in 16.33%, and 5.1% with dyslipidemia were noted. The number of thrombophilic disorders seemed to be less than expected and were noted in only 5.1%. Other systemic abnormalities included viral hepatitis infection, systemic lupus erythematosus, and acquired immunodeficiency syndrome. Oral contraceptives were used by some patients. Conclusion Atherosclerotic diseases remained the most commonly associated systemic diseases in the majority of these patients. Approach to these patients should include a screening for hypertension, diabetes mellitus, and lipid abnormalities. Thrombophilia should also be considered where no obvious atherosclerotic diseases are found or if the patient is <40 years old, a history of thrombosis or a family history of thrombosis is possible. PMID:28260858

  4. Pneumonia acquired in the Community

    Directory of Open Access Journals (Sweden)

    María Caridad Fragoso Marchante

    2007-06-01

    Full Text Available A bibliographical revision of the main aspects in the diagnosis and treatment of the patients suffering from pneumonia acquired in the community is carried out. Microorganisms responsible for this type of pneumonia are mention in this paper as well as the available diagnostic methods for germs isolation. Different guidelines for diagnosis and treatment of this disease published by several medical societies and scientific institutions are analyzed by means of a review of the stratification index of the patients used in each of them. Aspects related to the duration of the treatment and the possible causes associated with the unfavorable evolution are stated.

  5. Thyroid abnormality in perimenopausal women with abnormal uterine bleeding

    Directory of Open Access Journals (Sweden)

    Prasanna Byna

    2015-11-01

    Full Text Available Background: AUB is a common but complicated clinical presentation and occurs in 15-20% of women between menarche to menopause and significantly affects the women's health. Women with thyroid dysfunction often have menstrual irregularities, infertility and increased morbidity during pregnancy. The objective of present study is to find the correlation between thyroid disorders and AUB in perimenopausal women attending gynecology OPD. Methods: In the present study, fifty five patients with AUB were included and were evaluated for the cause including thyroid abnormality. Thyroid function tests were done in all patients. Results: Among 55 patients, 12 patients were diagnosed as hypothyroidism and 7 as hyperthyroidism, women with AUB 36 (65.4% were euthyroid. Among 19 women with thyroid abnormality, heavy menstrual bleeding was seen in 8 (42% women, 6 (31.57% had polymenorrhagia, 5 (26.31% had oligomenorrhoea. The frequent menstrual abnormality in women with hypothyroidism (12 women was heavy menstrual bleeding in 5 (41.6% women, 3 (25% had oligomennorhoea, 4 (33.3% had polymenorrhagia. Out of 7 women with hyperthyroidism, 2 (28.57% had oligomenorrhoea, 3 (42.8% had heavy menstrual bleeding, 2 (28.57% had polymenorrhagia. In a total of 55 patients with AUB, 11 (20% had structural abnormalities in uterus and ovaries. 5 (9% had adenomyosis, 3 (5.4% had ovarian cysts, 3 (5.4% had fibroids. Conclusions: It is important to screen all women for thyroid abnormality who are presenting with AUB especially with non-structural causes of AUB. Correction of thyroid abnormalities also relieves AUB. This will avoid unnecessary hormonal treatment and surgery. [Int J Res Med Sci 2015; 3(11.000: 3250-3253

  6. 不同核型特纳综合征患儿认知及脑形态学研究%Wechsler intelligence test and a whole-brain matter analysis in children with Turner syndrome of different karyotypes

    Institute of Scientific and Technical Information of China (English)

    赵秋玲; 张知新; 谢晟; 程盼贵; 张嘉颖; 龚高浪

    2012-01-01

    (P<0.05, FEW-corrected) in the gray matter of both parahip-pocampus, fusiform, insula, hippocampus, putamen, superior temporal gyrus, amygdala, caudate, thalamus , cerebellum and the left lingual. In the white matter regions there was significantly reduced volume in the left postcentral gyrus and inferior parietal lobule , in 45X karyotype TS children (P<0.05, FEW-corrected). In non 45X karyotype TS children, significantly decreased volume (P<0.05, FEW-corrected) was seen in the left superior parietal lobule and precuneus lobule and the superior occipital lobule. Conclusions The IQ of TS children is decreased and accompanied by non-verbal obstacles. There may be verbal obstacles with monosomy TS girls. Abnormal gray and white matter volumes in some brain regions may be involved in the neuropathology of Turner syndrome.%目的 探讨不同核型特纳综合征 (Turner syndrome,TS) 患儿的神经认知功能及脑灰白质体积的异常情况.方法 选择9例染色体核型为45X和11例其他核型的TS患儿及20例正常女童进行韦氏智力测试与3.0 T 磁共振 (MRI) 扫描.全脑高分辨率T1W图像采用SPM 8软件包进行基于体素的形态测量学 (VBM) 分析,以协方差分析比较TS患儿与正常女童之间全脑灰白质体积的差别.结果两组TS患儿的智商均低于正常女童 (P <0.05);45X患儿在言语理解、知觉推理、工作记忆和加工速度项目得分低于正常女童 (P <0.05);其他核型患儿仅知觉推理和加工速度2项得分低于正常女童 (P <0.05).两组TS患儿在言语理解项目得分差异有统计学意义 (P <0.05).MRI扫描发现,45X组患儿右侧顶上小叶、中央后回、楔叶、楔前叶、距状皮层、左侧枕叶中下部灰质体积减小;双侧辅助运动区,额上回内侧,右侧扣带回中部,左侧颞回、额回、小脑、海马、海马旁回、梭状回灰质体积增加;其他核型患儿在双侧海马旁回、梭状回、脑岛、海马、壳核、上颞、杏仁

  7. Analysis of 427 chromosomal karyotype in amniotic fluid of high risk pregnancy%宜昌地区427例高危孕妇羊水细胞染色体核型结果分析

    Institute of Scientific and Technical Information of China (English)

    张庆勇; 付爱红

    2016-01-01

    目的 分析宜昌地区羊水染色体核型,总结宜昌地区羊水细胞染色体核型异常核型出现的类型、发生率及相关影响因素,为产前诊断提供依据.方法 对产前筛查高危孕妇进行羊水穿刺、细胞培养、染色体制备、G显带以及核型分析.结果 羊水细胞培养成功率为99.1% (427/431),发现异常核型25例,异常检出率为5.9% (25/427).其中,21-三体7例,18-三体3例,13-三体1例,46,XX[16]/47,XX+mar [2];47,XXY;46,XY[1]/47,XXY [24];46,XX [7]/47,XXX[1];46,XXq-[14]/45,Xo [6];45,XO;46,XN inv (9)各1例,染色体多态7例.结论 宜昌地区产前筛查高危孕妇羊水细胞染色体核型异常检出率较高,主要为常见的三体综合症,性染色体异常及染色体多态.其中,21-三体发生率和染色体多态较高,性染色体异常次之.%Objective:To analyze the amniotic fluid karyotype type and summary incidence rate and related factors of the abnormal karyotype in Yichang.Methods:The amniotic fluid samples were obtained through amniocentesis for cell culture,chromosomal preparation and G-banding karyotype analysis.Results:The achievement rate of amniotic fluid cell culture was 99.1% (427/431),25 abnormal karyotypes were found in 427 anniotic fluid samples.The occurrence was 5.9% (25/427).Among them,7 cases of 21 trisomy,3 eases of 18 trisomy,1 case of 13 trisomy,1 case of 46,XX [16] / 47,XX + mar [2];47,XXY;46,XY [1] / 47,XXY [24];46,XX [7] / 47,XXX [1];46,XXq-[14] / 45,XO [6];45,XO;46,XN inv (9).7 cases of Chromosome polymorphism.Conclusion:Amniotic fluid cells detection rate of chromosome abnormalities of high-risk pregnant women was higher,mainly trisomy,sex chromosome abnormalities and chromosomal polymorphism in Yichang region.Among them,the incidence of trisomy 21 and chromosome polymorphism were higher,followed by sex chromosome abnormalities.

  8. TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome.

    Science.gov (United States)

    Rücker, Frank G; Schlenk, Richard F; Bullinger, Lars; Kayser, Sabine; Teleanu, Veronica; Kett, Helena; Habdank, Marianne; Kugler, Carla-Maria; Holzmann, Karlheinz; Gaidzik, Verena I; Paschka, Peter; Held, Gerhard; von Lilienfeld-Toal, Marie; Lübbert, Michael; Fröhling, Stefan; Zenz, Thorsten; Krauter, Jürgen; Schlegelberger, Brigitte; Ganser, Arnold; Lichter, Peter; Döhner, Konstanze; Döhner, Hartmut

    2012-03-01

    To assess the frequency of TP53 alterations and their correlation with other genetic changes and outcome in acute myeloid leukemia with complex karyotype (CK-AML), we performed integrative analysis using TP53 mutational screening and array-based genomic profiling in 234 CK-AMLs. TP53 mutations were found in 141 of 234 (60%) and TP53 losses were identified in 94 of 234 (40%) CK-AMLs; in total, 164 of 234 (70%) cases had TP53 alterations. TP53-altered CK-AML were characterized by a higher degree of genomic complexity (aberrations per case, 14.30 vs 6.16; P number alterations, such as -5/5q-, -7/7q-, -16/16q-, -18/18q-, +1/+1p, and +11/+11q/amp11q13∼25; among CK-AMLs, TP53-altered more frequently exhibited a monosomal karyotype (MK). Patients with TP53 alterations were older and had significantly lower complete remission rates, inferior event-free, relapse-free, and overall survival. In multivariable analysis for overall survival, TP53 alterations, white blood cell counts, and age were the only significant factors. In conclusion, TP53 is the most frequently known altered gene in CK-AML. TP53 alterations are associated with older age, genomic complexity, specific DNA copy number alterations, MK, and dismal outcome. In multivariable analysis, TP53 alteration is the most important prognostic factor in CK-AML, outweighing all other variables, including the MK category.

  9. Comparative cytogenetics of tree frogs of the Dendropsophus marmoratus (Laurenti, 1768) group: conserved karyotypes and interstitial telomeric sequences

    Science.gov (United States)

    Teixeira, Lívia S. R.; Seger, Karin Regina; Targueta, Cíntia Pelegrineti; Orrico, Victor G. Dill; Lourenço, Luciana Bolsoni

    2016-01-01

    Abstract The diploid number 2n = 30 is a presumed synapomorphy of Dendropsophus Fitzinger, 1843, although a noticeable variation in the number of biarmed/telocentric chromosomes is observed in this genus. Such a variation suggests that several chromosomal rearrangements took place after the evolutionary origin of the hypothetical ancestral 30-chromosome karyotype; however, the inferred rearrangements remain unknown. Distinct numbers of telocentric chromosomes are found in the two most cytogenetically studied species groups of Dendropsophus. In contrast, all three species of the Dendropsophus marmoratus (Laurenti, 1768) group that are already karyotyped presented five pairs of telocentric chromosomes. In this study, we analyzed cytogenetically three additional species of this group to investigate if the number of telocentric chromosomes in this group is not as variable as in other Dendropsophus groups. We described the karyotypes of Dendropsophus seniculus (Cope, 1868), Dendropsophus soaresi (Caramaschi & Jim, 1983) and Dendropsophus novaisi (Bokermann, 1968) based on Giemsa staining, C-banding, silver impregnation and in situ hybridization with telomeric probes. Dendropsophus seniculus, Dendropsophus soaresi and Dendropsophus novaisi presented five pairs of telocentric chromosomes, as did the remaining species of the group previously karyotyped. Though the species of this group show a high degree of karyotypic similarity, Dendropsophus soaresi was unique in presenting large blocks of het-ITSs (heterochromatic internal telomeric sequences) in the majority of the centromeres. Although the ITSs have been interpreted as evidence of ancestral chromosomal fusions and inversions, the het-ITSs detected in the karyotype of Dendropsophus soaresi could not be explained as direct remnants of ancestral chromosomal rearrangements because no evidence of chromosomal changes emerged from the comparison of the karyotypes of all of the species of the Dendropsophus marmoratus group

  10. Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.

    Science.gov (United States)

    Balci, Sevim; Tümer, Celal; Karaca, Ciğdem; Bartsch, Oliver

    2011-05-01

    We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is the first report of a mother with a supernumerary ring (18) and a son with ring (18) mosaicism. Interestingly, the son showed a true mosaicism (mixoploidy) of ring (18) and normal cells. The mother's 46,XX cells could be easily explained by mitotic instability and ring loss during cell division. However, the coexistence of ring (18) and normal cells in the son is unusual. Possibly, during early postzygotic divisions of a 47,XY,+r(18) zygote, two (possibly subsequent) genetic events could have occurred, one when one normal chromosome 18 was lost (resulting in a cell line with ring 18), and one when the ring 18 was lost (resulting in a cell line without ring, "escape to normal"). Alternatively, the zygote of the son could have been 46,XY,r(18), and postzygotic loss of the ring 18 could have resulted in monosomy 18 cells followed by duplication of chromosome 18 in these cells (a rare mechanism for cell survival previously described as "compensatory" isodisomy).

  11. Foodborne listeriosis acquired in hospitals.

    Science.gov (United States)

    Silk, Benjamin J; McCoy, Morgan H; Iwamoto, Martha; Griffin, Patricia M

    2014-08-15

    Listeriosis is characterized by bacteremia or meningitis. We searched for listeriosis case series and outbreak investigations published in English by 2013, and assessed the strength of evidence for foodborne acquisition among patients who ate hospital food. We identified 30 reports from 13 countries. Among the case series, the median proportion of cases considered to be hospital-acquired was 25% (range, 9%-67%). The median number of outbreak-related illnesses considered to be hospital-acquired was 4.0 (range, 2-16). All patients were immunosuppressed in 18 of 24 (75%) reports with available data. Eight outbreak reports with strong evidence for foodborne acquisition in a hospital implicated sandwiches (3 reports), butter, precut celery, Camembert cheese, sausage, and tuna salad (1 report each). Foodborne acquisition of listeriosis among hospitalized patients is well documented internationally. The number of listeriosis cases could be reduced substantially by establishing hospital policies for safe food preparation for immunocompromised patients and by not serving them higher-risk foods.

  12. Pruritic acquired nevus of Ota.

    Science.gov (United States)

    Quenan, S; Strueven, V; Saxer, N; Laffitte, E; Kaya, G; Krischer, J; Hafezi, F; Le Gal, F-A

    2013-01-01

    Nevus of Ota is a unilateral, asymptomatic cutaneous and mucosal hyperpigmentation of the face that is congenital or may appear during childhood. We present a case of symptomatic acquired nevus of Ota in an adult, associated with intense pruritus, not described in the literature so far. A 32-year-old woman presented with brownish mottled macules which appeared on her face progressively over 8 days, following the distribution of the first and second divisions of the left trigeminal nerve and partially covering the iris and sclera of the left eye. She reported an intense pruritus in this area. We performed a biopsy on the left forehead, which confirmed the diagnosis of nevus of Ota. Specific stains and immunohistochemistry revealed increased numbers of mast cells. Ophthalmological tests showed acute acquired melanocytosis of the left iris and sclera. The origin of the nevus is still unclear. Several hypotheses suggest a reactivation of melanocytes during their migration from the neural crest. The pruritus reported in our patient may be explained by the increased quantity of mast cells observed in the lesion and/or neuronal stimulation of the ophthalmic and maxillary divisions of the fifth cranial nerve.

  13. A novel technique to treat acquired Chiari I malformation after supratentorial shunting

    NARCIS (Netherlands)

    Potgieser, Adriaan R E; Hoving, Eelco W

    2016-01-01

    PURPOSE: The acquired Chiari I malformation with abnormal cranial vault thickening is a rare late complication of supratentorial shunting. It poses a difficult clinical problem, and there is debate about the optimal surgical strategy. Some authors advocate supratentorial skull enlarging procedures w

  14. Abnormal insulin levels and vertigo.

    Science.gov (United States)

    Proctor, C A

    1981-10-01

    Fifty patients with unexplained vertigo (36) or lightheadedness (14) are evaluated, all of whom had abnormal ENGs and normal audiograms. Five hour insulin glucose tolerance tests were performance on all patients, with insulin levels being obtained fasting and at one-half, one, two, and three hours. The results of this investigation were remarkable. Borderline or abnormal insulin levels were discovered in 82% of patients; 90% were found to have either an abnormal glucose tolerance test or at least borderline insulin levels. The response to treatment in these dizzy patients was also startling, with appropriate low carbohydrate diets improving the patient's symptoms in 90% of cases. It is, therefore, apparent that the earliest identification of carbohydrate imbalance with an insulin glucose tolerance test is extremely important in the work-up of the dizzy patients.

  15. Influence of detection of pretreatment cytogenetic abnormalities on first complete remission and survival in adult acute lymphoblastic leukemia

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    Milena Georgieva Velizarova

    2011-09-01

    Full Text Available Objective: Treatment of acute lymphoblastic leukemia (ALL in adults focuses on the initial assessment of the prognostic relevant cytogenetic features as well as a response-guided therapy based on molecular data. We examined the importance of molecular-cytogenetic abnormalities for complete remission (CR rates and the overall survival (OS in adult ALLs.Materials and Methods: Conventional cytogenetics and fluorescence in situ hybridization were performed on bone marrow cells from 33 newly-diagnosed ALL adults. Two karyotype categories [standard- risk group- normal karyotype, hyperdiplody and other structural aberrations, and high-risk group-t(11q23/MLL, t(9;22/bcr-abl, t(1;19, t(8;14, C-MYC and complex karyotype] and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined.Results: Chromosomal abnormalities were found in 52% of the cases with a high rate of poor-risk translocations - t(9;22, t(8q24, t(11q23, t(1;19. The total CR rate was 67% and the median time for achievement 2.33 months. Male sex, an age below 35 years and the absence of high risk translocations might have contributed to the high CR rates. Female patients, hyperdiplody, low white blood cells (WBC, and random cytogenetic aberrations had the longest OS. OS, 3- and 5-years survival periods were significantly shorter for poor-risk than standard risk group (p=.015, p=.001 and p=.005, respectively.Conclusion: This study emphasizes the lack of influence of cytogenetic aberrations on the CR and the time to achieve CR. However, our observations show that these aberrations are an independent prognostic factor in adult ALL - they allow predicting therapy resistance and the OS time after intensetreatment.

  16. Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene.

    Science.gov (United States)

    van Zutven, Laura J C M; Onen, Emine; Velthuizen, Sandra C J M; van Drunen, Ellen; von Bergh, Anne R M; van den Heuvel-Eibrink, Marry M; Veronese, Angelo; Mecucci, Cristina; Negrini, Massimo; de Greef, Georgine E; Beverloo, H Berna

    2006-05-01

    Chromosome rearrangements are found in many acute leukemias. As a result, genes at the breakpoints can be disrupted, forming fusion genes. One of the genes involved in several chromosome aberrations in hematological malignancies is NUP98 (11p15). As NUP98 is close to the 11p telomere, small translocations might easily be missed. Using a NUP98-specific split-signal fluorescence in situ hybridization (FISH) probe combination, we analyzed 84 patients with acute myeloid leukemia (AML), acute lymphoblastic leukemia, or myelodysplastic syndrome with either normal karyotypes or 11p abnormalities to investigate whether there are unidentified 11p15 rearrangements. Neither NUP98 translocations nor deletions were identified in cases with normal karyotypes, indicating these aberrations may be very rare in this group. However, NUP98 deletions were observed in four cases with unbalanced 11p aberrations, indicating that the breakpoint is centromeric of NUP98. Rearrangements of NUP98 were identified in two patients, both showing 11p abnormalities in the diagnostic karyotype: a t(4;11)(q1?3;p15) with expression of the NUP98-RAP1GDS1 fusion product detected in a 60-year-old woman with AML-M0, and an add(11)(p15) with a der(21)t(11;21)(p15;p13) observed cytogenetically in a 1-year-old boy with AML-M7. JARID1A was identified as the fusion partner of NUP98 using 3' RACE, RT-PCR, and FISH. JARID1A, at 12p13, codes for retinoblastoma binding protein 2, a protein implicated in transcriptional regulation. This is the first report of JARID1A as a partner gene in leukemia.

  17. Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra

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    Azevedo Nathália F

    2012-03-01

    Full Text Available Abstract Background Xenarthra (sloths, armadillos and anteaters represent one of four currently recognized Eutherian mammal supraorders. Some phylogenomic studies point to the possibility of Xenarthra being at the base of the Eutherian tree, together or not with the supraorder Afrotheria. We performed painting with human autosomes and X-chromosome specific probes on metaphases of two three-toed sloths: Bradypus torquatus and B. variegatus. These species represent the fourth of the five extant Xenarthra families to be studied with this approach. Results Eleven human chromosomes were conserved as one block in both B. torquatus and B. variegatus: (HSA 5, 6, 9, 11, 13, 14, 15, 17, 18, 20, 21 and the X chromosome. B. torquatus, three additional human chromosomes were conserved intact (HSA 1, 3 and 4. The remaining human chromosomes were represented by two or three segments on each sloth. Seven associations between human chromosomes were detected in the karyotypes of both B. torquatus and B. variegatus: HSA 3/21, 4/8, 7/10, 7/16, 12/22, 14/15 and 17/19. The ancestral Eutherian association 16/19 was not detected in the Bradypus species. Conclusions Our results together with previous reports enabled us to propose a hypothetical ancestral Xenarthran karyotype with 48 chromosomes that would differ from the proposed ancestral Eutherian karyotype by the presence of the association HSA 7/10 and by the split of HSA 8 into three blocks, instead of the two found in the Eutherian ancestor. These same chromosome features point to the monophyly of Xenarthra, making this the second supraorder of placental mammals to have a chromosome signature supporting its monophyly.

  18. Insight into the karyotype evolution of brachypodium species using comparative chromosome barcoding.

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    Dominika Idziak

    Full Text Available Paleogenomic studies based on bioinformatic analyses of DNA sequences have enabled unprecedented insight into the evolution of grass genomes. They have revealed that nested chromosome fusions played an important role in the divergence of modern grasses. Nowadays, studies on karyotype evolution based on the sequence analysis can also be effectively complemented by the fine-scale cytomolecular approach. In this work, we studied the karyotype evolution of small genome grasses using BAC-FISH based comparative chromosome barcoding in four Brachypodium species: diploid B. distachyon (2n = 10 and B. sylvaticum (2n = 18, diploid (2n = 18 and allopolyploid (2n = 28 B. pinnatum as well as B. phoenicoides (2n = 28. Using BAC clones derived from the B. distachyon genomic libraries for the chromosomes Bd2 and Bd3, we identified the descending dysploidy events that were common for diploids with x = 9 and B. distachyon as well as two nested chromosome fusions that were specific only for B. distachyon. We suggest that dysploidy events that are shared by different lineages of the genus had already appeared in their common ancestor. We also show that additional structural rearrangements, such as translocations and duplications, contributed to increasing genome diversification in the species analysed. No chromosomes structured exactly like Bd2 and Bd3 were found in B. pinnatum (2n = 28 and B. phoenicoides. The structure of Bd2 and Bd3 homeologues belonging to the two genomes in the allopolyploids resembled the structure of their counterparts in the 2n = 18 diploids. These findings reinforce the hypothesis which excludes B. distachyon as a potential parent for Eurasian perennial Brachypodium allopolyploids. Our cytomolecular data elucidate some mechanisms of the descending dysploidy in monocots and enable reconstructions of the evolutionary events which shaped the extant karyotypes in both the genus Brachypodium and in grasses as a whole.

  19. The karyotype of Nothoscordum arenarium Herter (Gilliesioideae, Alliaceae): A populational and cytomolecular analysis.

    Science.gov (United States)

    Souza, Luiz G R; Crosa, Orfeo; Winge, Helga; Guerra, Marcelo

    2009-01-01

    The genus Nothoscordum Kunth comprises approximately 20 species native to South America. Karyologically, the genus is remarkable for its large chromosomes and Robertsonian translocations. Variation in chromosome number has been recorded in a few polyploid species and it is unknown among diploids. This study presents the chromosome number and morphology of 53 individuals of seven populations of N. arenarium Herter (2n = 10). In addition, karyotype analyses after C-banding, staining with CMA and DAPI, and in situ hybridization with 5S and 45S rDNA probes were performed in six individuals from one population. All individuals exhibited 2n = 10 (6M + 4A), except for one tetraploid (2n = 20, 12M + 8A) and one triploid (2n = 15, 9M + 6A) plant. C-banding revealed the presence of CMA(+) /DAPI (-) heterochromatin in the short arm and in the proximal region of the long arm of all acrocentric chromosomes. The 45S rDNA sites co-localized with the CMA (+) regions of the acrocentrics short arms, while the 5S rDNA probe only hybridized with the subterminal region of a pair of metacentric chromosomes. A change in the pattern of CMA bands and rDNA sites was observed in only one individual bearing a reciprocal translocation involving the long arm of a metacentric and the long arm of an acrocentric chromosome. These data suggest that, despite isolated cases of polyploidy and translocation, the karyotype of N. arenarium is very stable and the karyotypic instability described for other species may be associated with their polyploid condition.

  20. The karyotype of Nothoscordum arenarium Herter (Gilliesioideae, Alliaceae: a populational and cytomolecular analysis

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    Luiz G.R. Souza

    2009-01-01

    Full Text Available The genus Nothoscordum Kunth comprises approximately 20 species native to South America. Karyologically, the genus is remarkable for its large chromosomes and Robertsonian translocations. Variation in chromosome number has been recorded in a few polyploid species and it is unknown among diploids. This study presents the chromosome number and morphology of 53 individuals of seven populations of N. arenarium Herter (2n = 10. In addition, karyotype analyses after C-banding, staining with CMA and DAPI, and in situ hybridization with 5S and 45S rDNA probes were performed in six individuals from one population. All individuals exhibited 2n = 10 (6M + 4A, except for one tetraploid (2n = 20, 12M + 8A and one triploid (2n = 15, 9M + 6A plant. C-banding revealed the presence of CMA+/DAPI- heterochromatin in the short arm and in the proximal region of the long arm of all acrocentric chromosomes. The 45S rDNA sites co-localized with the CMA+ regions of the acrocentrics short arms, while the 5S rDNA probe only hybridized with the subterminal region of a pair of metacentric chromosomes. A change in the pattern of CMA bands and rDNA sites was observed in only one individual bearing a reciprocal translocation involving the long arm of a metacentric and the long arm of an acrocentric chromosome. These data suggest that, despite isolated cases of polyploidy and translocation, the karyotype of N. arenarium is very stable and the karyotypic instability described for other species may be associated with their polyploid condition.

  1. A new karyotype for the genus Cavia from a southern island of Brazil (Rodentia - Caviidae

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    A. Gava

    1998-03-01

    Full Text Available Intraspecific karyotype variation in mammal species is very common and often caused by centromeric fusion of acrocentric chromosomes. We describe here a new karyotype 2n = 62 (FN = 112 for the genus Cavia from the Moleques do Sul Islands, of the southern coast of Brazil. We analyzed two male and four female karyotypes that had twenty-four biarmed pairs and six pairs of acrocentric chromosomes. The sexual pair consisted of a metacentric X-chromosome and a large acrocentric Y. C-bands were found in the centromeric and pericentromeric regions of almost all chromosomes, except for some small biarmed and acrocentric ones. Nucleolus organizer regions appeared in two biarmed chromosomes, and G-banding patterns were also seen.RESUMO A variação cariotípica nas espécies de mamíferos é bastante comum e geralmente causada pela fusão de cromossomos acrocêntricos. Foi descrito neste trabalho um novo cariótipo, com 2n = 62 e FN = 112, para o gênero Cavia proveniente das ilhas Moleques do Sul, da costa sul do Brasil. Foram analisados os cariótipos de dois machos e quatro fêmeas que possuiam 24 pares de cromossomos com dois braços e seis pares de acrocêntricos. O par sexual era constituído por um cromossomo X metacêntrico grande e um Y acrocêntrico. As bandas C estavam localizadas nas regiões centroméricas e pericentroméricas da maioria dos cromossomos, com exceção de alguns acrocêntricos e os cromossomos de dois braços menores. As regiões organizadoras de nucléolo ocorreram em dois cromossomos com dois braços e o padrão de bandamento G foi também apresentado.

  2. Karyotype diversity suggests that Laonastes aenigmamus (Laotian rock rat) (Rodentia, Diatomyidae) is a multi-specific genus.

    Science.gov (United States)

    Richard, Florence; Gerbault-Seureau, Michèle; Douangboupha, Bounneuang; Keovichit, Kham; Hugot, Jean-Pierre; Dutrillaux, Bernard

    2016-09-01

    Laonastes aenigmamus (Khanyou) is a recently described rodent species living in geographically separated limestone formations of the Khammuan Province in Lao PDR. Chromosomes of 21 specimens of L. aenigmamus were studied using chromosome banding as well as fluorescent in situ hybridization (FISH) techniques using human painting, telomere repeats, and 28S rDNA probes. Four different karyotypes were established. Study with human chromosome paints and FISH revealed that four large chromosomes were formed by multiple common tandem fusions, with persistence of some interstitial telomeres. The rearrangements separating the different karyotypes (I to IV) were also reconstructed. Various combinations of Robertsonian translocations or tandem fusions involving the same chromosomes differentiate these karyotypes. These rearrangements create a strong gametic barrier, which isolates specimens with karyotype II from the others. C-banding and FISH with telomere repeats also exhibit large and systematized differences between karyotype II and others. These data indicate an ancient reproductive separation and suggest that Laonastes is not a mono-specific genus.

  3. Bio-metric study of pig karyotype; Etude biometrique du caryotype du porc

    Energy Technology Data Exchange (ETDEWEB)

    Haag, J.; Lacourly, N.; Nizza, P. [Commissariat a l' Energie Atomique, Saclay (France). Centre d' Etudes Nucleaires

    1969-07-01

    This study has a twofold purpose, the former is to determine the swine karyotype as accurately as possible, the latter is to try and develop a method of automatic classification and to show its possibilities and limits. (authors) [French] Cette etude a un double objet: d'une part, de definir de la facon aussi precise que possible le caryotype du porc et d'autre part, de tenter une methode de classification automatique et d'en montrer les possibilites ainsi que les limites. (auteurs)

  4. Occurrence of multiple nucleolus organizer regions and intraspecific karyotype variation in Scaptotrigona xanthotricha Moure (Hymenoptera, Meliponini).

    Science.gov (United States)

    Duarte, O M P; Martins, C C C; Waldschmidt, A M; Costa, M A

    2009-07-21

    Scaptotrigona xanthotricha has a wide geographic distribution in the Brazilian Atlantic rainforest. One population from southeast and two from northeast Brazil were analyzed and were found to have chromosome polymorphisms. Although the chromosome number 2n = 34 is conserved in this species, karyotypic analysis revealed clear differences between the three populations. Congruent and ubiquitous multiple nucleolus organizer regions, heterochromatin and CMA(3)-positive blocks were found. The variations suggest that this species is in a process of genetic differentiation. This differentiation process might have been enhanced by restricted nesting preferences, combined with recent extensive fragmentation of the Atlantic rainforest, which limits gene flow between populations.

  5. Microarray karyotyping of commercial wine yeast strains reveals shared, as well as unique, genomic signatures

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    Levine R Paul

    2005-04-01

    Full Text Available Abstract Background Genetic differences between yeast strains used in wine-making may account for some of the variation seen in their fermentation properties and may also produce differing sensory characteristics in the final wine product itself. To investigate this, we have determined genomic differences among several Saccharomyces cerevisiae wine strains by using a "microarray karyotyping" (also known as "array-CGH" or "aCGH" technique. Results We have studied four commonly used commercial wine yeast strains, assaying three independent isolates from each strain. All four wine strains showed common differences with respect to the laboratory S. cerevisiae strain S288C, some of which may be specific to commercial wine yeasts. We observed very little intra-strain variation; i.e., the genomic karyotypes of different commercial isolates of the same strain looked very similar, although an exception to this was seen among the Montrachet isolates. A moderate amount of inter-strain genomic variation between the four wine strains was observed, mostly in the form of depletions or amplifications of single genes; these differences allowed unique identification of each strain. Many of the inter-strain differences appear to be in transporter genes, especially hexose transporters (HXT genes, metal ion sensors/transporters (CUP1, ZRT1, ENA genes, members of the major facilitator superfamily, and in genes involved in drug response (PDR3, SNQ1, QDR1, RDS1, AYT1, YAR068W. We therefore used halo assays to investigate the response of these strains to three different fungicidal drugs (cycloheximide, clotrimazole, sulfomethuron methyl. Strains with fewer copies of the CUP1 loci showed hypersensitivity to sulfomethuron methyl. Conclusion Microarray karyotyping is a useful tool for analyzing the genome structures of wine yeasts. Despite only small to moderate variations in gene copy numbers between different wine yeast strains and within different isolates of a given

  6. A first glimpse of wild lupin karyotype variation as revealed by comparative cytogenetic mapping

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    Karolina Susek

    2016-07-01

    Full Text Available Insight into plant genomes at the cytomolecular level provides useful information about their karyotype structure, enabling inferences about taxonomic relationships and evolutionary origins. The Old World lupins demonstrate a high level of genomic diversification involving variation in chromosome numbers (2n=32-52, basic chromosome numbers (x=5-7, 9, 13 and in nuclear genome size (2C DNA=0.97-2.68 pg. Lupins comprise both crop and wild species and provide an intriguing system to study karyotype evolution.In order to investigate lupin chromosome structure, heterologous FISH was used. Sixteen BACs that had been generated as chromosome markers for the reference species, Lupinus angustifolius, were used to identify chromosomes in the wild species and explore karyotype variation. While all ‘single-locus’ in L. angustifolius, in the wild lupins these clones proved to be ‘single-locus’, ‘single-locus’ with additional signals, ‘repetitive’ or had no detectable BAC-FISH signal. The diverse distribution of the clones in the targeted genomes suggests a complex evolution history, which possibly involved multiple chromosomal changes such as fusions/fissions and repetitive sequence amplification. Twelve BACs were sequenced and we found numerous transposable elements including DNA transposons as well as LTR and non-LTR retrotransposons with varying quantity and composition among the different lupin species. However, at this preliminary stage, no correlation was observed between the pattern of BAC-FISH signals and the repeat content in particular BACs. Here, we describe the first BAC-based chromosome-specific markers for the wild species: L. cosentinii, L. cryptanthus, L. pilosus, L. micranthus and one New World lupin, L. multiflorus. These BACs could constitute the basis for an assignment of the chromosomal and genetic maps of other lupins, e.g. L. albus and L. luteus. Moreover, we identified karyotype variation that helps illustrate the

  7. Completely Distinguishing Individual A-genome Chromosomes and Their Karyotyping Analysis by Multiple BAC-FISH

    Institute of Scientific and Technical Information of China (English)

    WANG Kai; GUO Wang-zhen; ZHANG Tian-zhen

    2008-01-01

    @@ Multiple BAC-FISH is a powerful tool for modern cytogenetic researching in both animals and plants.But in cotton,this technique is unavailable due to the high percentage of repetitive sequences.Here,we identified twenty BACs from more than fifty BACs,and successfully demonstrated the use of multiple BAC-FISH for cytogenetie research in a diploid cotton species,G.arboreum.The karyotyping should be a basic application of this technique,but the potential usage such as high-resolution physical mapping construction,assisting BAC-by-BAC sequencing will be invaluable.

  8. Morphological and karyotypic variation in three wild populations of Meretrix meretrix

    Institute of Scientific and Technical Information of China (English)

    DENG Yuewen; DU Xiaodong; HUANG Ronglian; WANG Qingheng

    2008-01-01

    Three wild populations of Meretrix meretrix sampled from Dongxing,Beihai,and Shankou along the coast of Guangxi,China,were investigated with morphometry and karyometry.Six morphological indices (shell length,shell height,shell width,hinge length,total wet weight and shell weight) were measured.Differences in all morphological indices except hinge length were significant among the three populations (P 0.05).However,the order of metacentric,submetacentric and subtelocentric chromosome pairs was variable among the three populations.The results indicate a high level of inter-population variation in morphology and karyotype.

  9. Lymphoma in acquired generalized lipodystrophy.

    Science.gov (United States)

    Brown, Rebecca J; Chan, Jean L; Jaffe, Elaine S; Cochran, Elaine; DePaoli, Alex M; Gautier, Jean-Francois; Goujard, Cecile; Vigouroux, Corinne; Gorden, Phillip

    2016-01-01

    Acquired generalized lipodystrophy (AGL) is a rare disease thought to result from autoimmune destruction of adipose tissue. Peripheral T-cell lymphoma (PTCL) has been reported in two AGL patients. We report five additional cases of lymphoma in AGL, and analyze the role of underlying autoimmunity and recombinant human leptin (metreleptin) replacement in lymphoma development. Three patients developed lymphoma during metreleptin treatment (two PTCL and one ALK-positive anaplastic large cell lymphoma), and two developed lymphomas (mycosis fungoides and Burkitt lymphoma) without metreleptin. AGL is associated with high risk for lymphoma, especially PTCL. Autoimmunity likely contributes to this risk. Lymphoma developed with or without metreleptin, suggesting metreleptin does not directly cause lymphoma development; a theoretical role of metreleptin in lymphoma progression remains possible. For most patients with AGL and severe metabolic complications, the proven benefits of metreleptin on metabolic disease will likely outweigh theoretical risks of metreleptin in lymphoma development or progression.

  10. Complement's participation in acquired immunity

    DEFF Research Database (Denmark)

    Nielsen, Claus Henrik; Leslie, Robert Graham Quinton

    2002-01-01

    of the B cell receptor for antigen (BCR), a complex composed of the iC3b/C3d fragment-binding complement type 2 receptor (CR2, CD21) and its signaling element CD19 and the IgG-binding receptor FcgammaRIIb (CD32). The positive or negative outcome of signaling through this triad is determined by the context...... in which antigen is seen, be it alone or in association with natural or induced antibodies and/or C3-complement fragments. The aim of this review is to describe the present status of our understanding of complement's participation in acquired immunity and the regulation of autoimmune responses....

  11. Bejel: acquirable only in childhood?

    Science.gov (United States)

    Rothschild, Bruce M; Rothschild, Christine; Naples, Virginia; Billard, Michel; Panero, Barbara

    2006-10-01

    Bejel clearly has a long history in the Middle East and the Sudan, but was it transmitted to Europe? As the major manifestation of bejel is presence of periosteal reaction in 20-40% of afflicted populations, absence of significant population frequency of periosteal reaction in Europe would exclude that diagnosis. Examination of skeletal populations from continental Europe revealed no significant periosteal reaction at the time of and immediately subsequent to the Crusades. Thus, there is no evidence for bejel in Europe, in spite of clear contact (the mechanism of bejel transmission in children) between warring groups, at least during the Crusades. This supports the hypothesis that bejel is a childhood-acquired disease and apparently cannot be contracted in adulthood.

  12. Identification of chromosome abnormalities in the horse using a panel of chromosome-specific painting probes generated by microdissection.

    Science.gov (United States)

    Bugno, Monika; Słota, Ewa; Pieńkowska-Schelling, Aldona; Schelling, Claude

    2009-09-01

    Fluorescent in situ hybridisation (FISH) using a panel of molecular probes for all chromosome pairs obtained by chromosome microdissection of the domestic horse ( Equus caballus ) was used to diagnose karyotype abnormalities in 35 horses (32 mares, 2 stallions and 1 intersex), which were selected for the study due to infertility (23 horses), reduced fertility (10 horses) and developmental anomalies (2 horses). The use of the FISH technique with probes for each horse chromosome pair enabled the diagnosis of many different chromosome aberrations in this population. Among the horses analysed, 21 animals had normal karyotype - 64,XX (19 mares) and 64,XY (2 stallions). Fourteen animals, constituting 40% of the population studied, showed the following chromosome abnormalities: 63,X (1 mare); 63,X/64,XX (6 mares); 63,X/64,XX/65,XXX (3 mares); 63,X/65,XXX (1 mare); 64,XX/65,XX+Xp (1 mare); 63,X/64,XX/65,XX+Xq (1 mare), and 63,X/64,XX/65,XX+delY (1 intersex). When only the mares studied because of complete infertility were taken into consideration, this proportion exceeded 56%. Due to the increased frequency of the above-mentioned aberrations in the mosaic form of two or more lines, it was necessary to analyse a large number (100-300) of metaphase spreads. The use of specific molecular probes obtained by chromosome microdissection made these diagnoses much easier.

  13. 染色体核型分析和荧光原位杂交技术用于产前诊断的价值%Prenatal diagnostic value of chromosomal karyotype analysis and fluores-cence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    吴玥丽; 赵晖; 赵玲; 周桃珍; 贾莉婷

    2015-01-01

    Aim:To evaluate the prenatal diagnosis value of chromosomal karyotyping analysis and fluorescence in situ hybridization(FISH) performed to detect the amniotic fluid cells from 2 708 cases.Methods:Amniocentesis, amniotic flu-id cell culture , chromosomal karyotype analysis and FISH detection were carried out in 2 708 cases of pregnancy women with prenatal diagnosis indication .Five chromosome-specific probes(chromosome 13, 18, 21, X, Y) were used in inter-phase FISH.Results:The success rate of chromosomal karyotype analysis was 99.9%(2 705/2 708) and 3 failed in am-niotic cell culture.Among the 2 705 cases,39 cases(1.4%) of chromosomal polymorphism were identified ,and 105 cases (3.9%) of chromosomal abnormalities were identified .Among all of the disorders, we found 82 cases of chromosomal ane-uploid abnormalities and 23 cases of structural abnormalities .The success rate of FISH was 100%.A total of 82 cases of chromosome abnormalities were detected by FISH , which were consistent with chromosomal karyotype analysis ,while chro-mosomal polymorphism and structural rearrangement were failed to be detected .Conclusion:Chromosomal karyotype anal-ysis could detect all kinds of chromosomal abnormalities including not only aneuploid but also structural rearrangement , but it is limited by strict gestational week requirements and requires more sample capacity , meanwhile cell culture and karyo-type analysis would lead to a long interval before diagnosis and there may be failures in cell culture , and it is limited in res-olution moreover .FISH technology could be performed without strict gestational week requirements , requires small quantity of samples, uncultured amniotic fluid cells could be detected directly .It is a fast and convenient detection technology but limited by only several chromosomal aneuploid abnormalities could be detected at present , and chromosomal structural ab-normalities such as balanced translocations , inversions and chromosomal polymorphism

  14. Cardiac abnormalities after subarachnoid hemorrhage

    NARCIS (Netherlands)

    Bilt, I.A.C. van der

    2016-01-01

    Aneurysmal subarachnoid hemorrhage(aSAH) is a devastating neurological disease. During the course of the aSAH several neurological and medical complications may occur. Cardiac abnormalities after aSAH are observed often and resemble stress cardiomyopathy or Tako-tsubo cardiomyopathy(Broken Heart Syn

  15. Congenital abnormalities in methylmercury poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Gilani, S.H.

    1975-04-01

    This study was undertaken to determine the teratogenic potential of methylmercury on chick embryogenesis. Methylmercuric chloride was dissolved in sodium bicarbonate (0.2%) and administered to the chick embryos at doses ranging from 0.0009 to 0.010 mg per egg. The injections were made at days 2 and 3 on incubation (Groups A and B). All the embryos including controls were examined on the 7th day of incubation. Methylmercury poisoning was observed to be both embryolethal and teratogenic. Within the two groups, embryolethality was higher in Group A. The following congenital abnormalities were observed: exencephaly, shortened and twisted limbs, microphthalmia, shortened and twisted neck, beak abnormalities, everted viscera, reduced body size and hemorrhage all over the body. Exencephaly and limb abnormalities were very common. No differences in the incidence and types of gross abnormalities within both the groups (A and B) were noted. The incidence of malformations among the controls was low. The results of present investigation show that methylmercury poisoning is both embryolethal and teratogenic to early chick embryogenesis. (auth)

  16. A new human natural killer leukemia cell line, IMC-1. A complex chromosomal rearrangement defined by spectral karyotyping: functional and cytogenetic characterization.

    Science.gov (United States)

    Chen, I-Ming; Whalen, Margaret; Bankhurst, Arthur; Sever, Cordelia E; Doshi, Rashmi; Hardekopf, David; Montgomery, Karen; Willman, Cheryl L

    2004-03-01

    A new human IL-2 dependent leukemic cell line with a natural killer (NK) cell phenotype, IMC-1, was established from an adult patient with aggressive NK cell leukemia. The IMC-1 cell line expresses the CD56, CD2, CD11a, CD38 and HLA-DR cell surface antigens, whereas the CD16 and CD8 antigens expressed on the primary leukemic blasts from which the cell line was derived were lost after 7 and 28 weeks of culture, respectively. The IMC-1 cell line displays functional NK cytotoxicity and lyses target cells in a non-MHC restricted, antibody-independent manner with equal or superior efficiency to freshly isolated NK cells. Cytogenetic analysis at presentation and after 55 weeks in culture revealed complex structural and numerical abnormalities, defined by classic G-banding and by spectral karyotyping (SKY). Three apparently intact copies of chromosome 8 occurred in the diagnostic bone marrow specimen; the cell line also contains three copies of chromosome 8 but each was structurally altered. The development and detailed characterization of this new NK leukemic cell line will facilitate biologic and functional studies of NK cells and chromosomal aberrations potentially important in leukemic transformation.

  17. 12 CFR 583.1 - Acquire.

    Science.gov (United States)

    2010-01-01

    ... AND LOAN HOLDING COMPANIES § 583.1 Acquire. The term acquire means to acquire, directly or indirectly, ownership or control through an acquisition of shares, an acquisition of assets or assumption of liabilities, a merger or consolidation, or any similar transaction....

  18. Cytogenetic characterization and AFLP-based genetic linkage mapping for the butterfly Bicyclus anynana, covering all 28 karyotyped chromosomes.

    Directory of Open Access Journals (Sweden)

    Arjen E Van't Hof

    Full Text Available BACKGROUND: The chromosome characteristics of the butterfly Bicyclus anynana, have received little attention, despite the scientific importance of this species. This study presents the characterization of chromosomes in this species by means of cytogenetic analysis and linkage mapping. METHODOLOGY/PRINCIPAL FINDINGS: Physical genomic features in the butterfly B. anynana were examined by karyotype analysis and construction of a linkage map. Lepidoptera possess a female heterogametic W-Z sex chromosome system. The WZ-bivalent in pachytene oocytes of B. anynana consists of an abnormally small, heterochromatic W-chromosome with the Z-chromosome wrapped around it. Accordingly, the W-body in interphase nuclei is much smaller than usual in Lepidoptera. This suggests an intermediate stage in the process of secondary loss of the W-chromosome to a ZZ/Z sex determination system. Two nucleoli are present in the pachytene stage associated with an autosome and the WZ-bivalent respectively. Chromosome counts confirmed a haploid number of n = 28. Linkage mapping had to take account of absence of crossing-over in females, and of our use of a full-sib crossing design. We developed a new method to determine and exclude the non-recombinant uninformative female inherited component in offspring. The linkage map was constructed using a novel approach that uses exclusively JOINMAP-software for Lepidoptera linkage mapping. This approach simplifies the mapping procedure, avoids over-estimation of mapping distance and increases the reliability of relative marker positions. A total of 347 AFLP markers, 9 microsatellites and one single-copy nuclear gene covered all 28 chromosomes, with a mapping distance of 1354 cM. Conserved synteny of Tpi on the Z-chromosome in Lepidoptera was confirmed for B. anynana. The results are discussed in relation to other mapping studies in Lepidoptera. CONCLUSIONS/SIGNIFICANCE: This study adds to the knowledge of chromosome structure and

  19. Fluorescence in situ hybridization(FISH) technique combined with karyotyping analysis in prenatal diagnosis%FISH技术在产前诊断中的应用价值研究

    Institute of Scientific and Technical Information of China (English)

    沈国松; 张甦; 何平亚; 方嵘

    2011-01-01

    目的 使用荧光原位杂交(FISH)技术对常见胎儿染色体数目异常进行快速诊断,结合羊水细胞培养染色体核型分析技术形成产前诊断体系,并对其临床应用价值进行评价.方法 应用诊断最常见染色体病的5种染色体(13、18、21、X和Y)特异性FISH探针对480例未经培养羊水细胞进行产前诊断,并和同时进行的羊水培养染色体核型分析相比较.结果 480例未经培养羊水细胞FISH实验全部获得检测结果,并发现21-三体综合征2例,18-三体综合征1例,克氏综合征1例,特纳综合征 1例,与羊水培养染色体分析结果一致,但报告时间(2至3d)与羊水染色体分析报告时间(2~3周)相比大为缩短.受固有技术限制有6例结构异常未能检出,但应用FISH技术对其中1例与性染色体有关的结构异常进行辅助诊断,获得了成功.结论 FISH技术在常见染色体数目异常产前诊断中应用行之有效,与羊水染色体核型分析技术相结合,将使产前诊断更加高效和安全.%To evaluate the clinical application of the combination of fluorescence in situ hybridization (FISH)technique and karyotyping analysis in prenatal diagnosis.MethodsFISH technology with the centromeric probes of chromo-some 13, 18, 21 ,X and Y was applied in 480 amniotic fluid specimens, the results were compared with those of the G banding karyotypes from standard cytogenetic analysis in cultured amniotic fluid cells.ResultsTotal 480 uncultured amniotic fluid speci-mens were successfully tested by FISH and two Down' s syndrome, one Edwards syndrome, one Klinefelter syndrome and one Turner syndrome were detected. The results obtained by FISH were consistent with those from karyotyping analysis. FISH (2-3 days) was faster than karyotyping(2-3 weeks) to get results. Karyotypes analysis detected 6 cases of chromosome structural abnormalities which were not detected by FISH, however, one of them with a sex chromosome-related structural

  20. Cien cariotipos fetales acreditados en Costa Rica, años 2009 y 2010 One Hundred Accredited Fetal Karyotypes in Costa Rica During 2009 and 2010

    Directory of Open Access Journals (Sweden)

    Isabel Castro-Volio

    2011-12-01

    laboratory tests, are reported. Methods: Amniocentesis were performed in hospitals of the social security system and in private facilities. There were two main reasons for referral: abnormal ultrasound assessment (65% of cases and advanced maternal age (28%. Fetal cells were flask open cultured and suspension harvested. Results: Abnormal fetal karyotypes were 35%. Success rate for samples of acceptable quality was 100%. Turn around time was 13 days average. This data is in accordance with American and European requirements for quality and competence. The laboratory also participates annually in Cytogenetic European Quality Assessment rounds with achievements of satisfactory performance. Conclusion: In Costa Rica we have skilled and experienced perinatologists as well as highly sophisticated ultrasonographic equipment, so that many fetal and pregnancy abnormalities are routinely detected. In these cases, the fetal karyotype of guaranteed quality is a very useful tool in their adequate clinical management.

  1. Three new karyotypes extend a Robertsonian fan in Ethiopian spiny mice of the genus Acomys I. Geoffroy, 1838 (Mammalia, Rodentia

    Directory of Open Access Journals (Sweden)

    Leonid Lavrenchenko

    2011-12-01

    Full Text Available Three new karyotypes (2n=40, 44, 52 are described revealing what are probably new cryptic species of Ethiopian spiny mice. Two other diploid numbers have already been reported for the country (2n=36 and 68 and, overall, the five known karyotypic forms constitute a common lineage differentiated by a Robertsonian process. Such arrays of karyotypic forms are known as a ‘Robertsonian fan’. This view of the situation in Ethiopian Acomys I. Geoffroy, 1838 is based on standard chromosomal morphology that reveals a constant FN (68 and needs further investigation of chromosome homology by differential staining and/or molecular cytogenetic techniques as well as further molecular phylogenetic analysis.

  2. Karyotype evolution in Tilapia: mitotic and meiotic chromosome analysis of Oreochromis karongae and O. niloticus x O. karongae hybrids.

    Science.gov (United States)

    Harvey, S C; Campos-Ramos, R; Kennedy, D D; Ezaz, M T; Bromage, N R; Griffin, D K; Penman, D J

    2002-06-01

    The karyotype of Oreochromis species is considered to be highly conserved, with a diploid chromosome complement of 2n = 44. Here we show, by analysis of mitotic and meiotic chromosomes, that the karyotype of O. karongae, one of the Lake Malawi 'chambo' species, is 2n = 38. This difference in chromosome number does not prevent the production of inter-specific hybrids between O. niloticus (2n = 44) and O. karongae (2n = 38). Analysis of the meiotic chromosomes of the O. niloticus x O. karongae hybrids indicates that three separate chromosome fusion events have occurred in O. karongae. Comparison of the O. karongae and O. niloticus karyotypes suggests that these consist of one Robertsonian fusion and two fusions of a more complex nature.

  3. 盐地碱蓬的染色体核型分析%Karyotype analysis of Suaeda salsa (L.) Pall

    Institute of Scientific and Technical Information of China (English)

    张峰; 姚燕

    2013-01-01

    The paper originally analyzes the number of chromosomes and karyotype of Suaeda salsa (L. ) Pall. Results show that its chromosome number is 2n =18, and that its karyotype formula is K(2n) =2x = 18 = 16m +2sm. The karyotype is 1A based on the classification standard of Stebbins.%本文首次对盐地碱蓬(Suaeda salsa(L.)Pall.)的染色体数目和核型进行了分析研究.结果表明,盐地碱蓬的染色体数目2n=18,核型公式为K(2n)=18=16m +2sm.根据Stebbins的核型分类标准,盐地碱蓬的核型属1A型.

  4. Karyotype in secondary hematologic disorders after treatment for Hodgkin's disease. A study of 19 patients

    Energy Technology Data Exchange (ETDEWEB)

    Iurlo, A.; Mecucci, C.; Van Orshoven, A.; Michaux, J.L.; Boogaerts, M.; Van den Berghe, H.

    1988-12-01

    In 19 cases of secondary hematologic disorders in patients previously treated for Hodgkin's disease, chromosome aberrations were analyzed in relation to the type of previous chemo- and/or radiotherapy, age of the patients, histopathologic features of the Hodgkin's disease at diagnosis, time interval between the treatment and the occurrence of the secondary disorder, and survival. The karyotype was of significant prognostic value when three cytogenetic groups were considered: patients with normal karyotypes; patients with aberrations of chromosome 7 as the sole anomaly; and patients with complex rearrangements and translocations. The last group showed the lowest rate of survival. Bone marrow transplantation was successful in two patients with a normal karyotype.

  5. A case of premature ovarian failure (POF) in a 31-year-old woman with a 47,XXX karyotype.

    Science.gov (United States)

    Skałba, Piotr; Cygal, Anna; Gierzyńska, Zuzanna

    2010-01-01

    A case of POF in a 31-year-old woman with karyotype 47,XXX. The aim of the study was to discuss a case of POF in a 31-year-old patient with polysomy 47,XXX. The described karyotype is not usually associated with this characteristic physical phenotype. In some rare cases, menstrual disorders, sterility, secondary amenorrhoea, premature menopause, and low intelligence are found. Our observations revealed the necessity for cytogenetic examination in all women at reproductive age with symptoms of premature ovarian failure. According to the data found in literature, patients with POF and karyotype disorders belong to the risk group of premature death, mostly for cardiological reasons. Raising patient awareness about the risk may have a positive effect on quality of life and regularity of check-ups.

  6. Analysis on the Chromosome Karyotype of Rhoeo discolor 'Compacta'%小蚌兰的核型分析

    Institute of Scientific and Technical Information of China (English)

    黄佳贤; 张玄兵; 朱伟玲

    2011-01-01

    The chromosome number and karyotype of small oyster plant was studied using fingertip pressing method. The results indicated that there were 64 small chromosomes. The karyotype formula was 2n=2x=32m+28sm+4st. The karyotype type was 2B.%采用染色体压片技术对小蚌兰进行染色体数目和核型分析.结果表明:小蚌兰体细胞染色体较小,染色体数目是2n=64;核型公式为2n=2x=32m+28sm+4st,染色体相对长度组成为2n=64=12L+18M2+20M1+14S,核型分类为2B型.

  7. Life style factors and acquired susceptibility to environmental disease.

    Science.gov (United States)

    Au, W W

    2001-10-01

    Multifactorial risk factors are responsible for many diseases. They can be broadly categorized as environmental, genetic and life style factors. Much attention has been focused on the first two categories, e.g. the identification of environmental toxicants/carcinogens and the elucidation of genetic susceptibility to disease. Life style risk factors such as aging, poor nutrition, infection and exposure to toxicants can also increase susceptibility to illnesses. These life style factors can therefore be considered to cause acquired susceptibility for increased risk for environmental disease. Among Egyptians, infection with the parasite, Schistosoma, is the primary risk factor for bladder cancer and the risk is enhanced by exposure to mutagenic chemicals. We have shown that inheritance of susceptible metabolizing genes that can increase body burden of mutagenic chemicals enhances the risk. We have also hypothesized that chronic exposure to mutagenic chemicals causes cellular abnormalities that can reduce the capacity of cells to repair DNA damage and thus increase the risk for environmental disease. We have used a challenge assay to show that cells from cigarette smokers and from populations exposed to uranium, butadiene and pesticides have abnormal DNA repair responses compared to matched controls. On the other hand, the response is normal in workers exposed to very low concentrations of butadiene and benzene, and in mothers who had children with birth defects. This suggests that exposure to high enough concentrations of certain mutagens can cause acquired susceptibility in human populations. The acquired susceptibility is expected to interact with environmental factors and with genetic susceptibility to increase risk for environmental disease.

  8. BURDEN OF ABNORMAL HEMATOPOIETIC CLONE IN PATIENTS WITH MYELODYSPLASTIC SYNDROMES

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Objective To investigate the role of the burden of abnormal hematopoietic clone in the development of myelodys plastic syndromes (MDS).Methods The ratio of the bone marrow cells with abnormal chromosomes to the total counted bone marrow cells was regarded as the index of MDS clone burden. The disease severity related parameters including white blood cell count, hemoglobin, platelet count, lactate dehydrogenase level, bone marrow blast, myeloid differentiation index, micromegakaryocyte, transfusion, interleukin-2, tumor necrosis factor ( TNF), CD4 + and CD8 + T cells of MDS patients were assayed, and the correlations between those parameters and MDS clone burden were also analyzed.Results The clone burden of MDS patients was 67.4% ± 36. 2%. MDS clone burden positively correlated with bone marrow blasts (r=0.483, P<0.05), negatively with hemoglobin level (r=-0.445, P<0.05). The number of blasts, hemoglobin, and erythrocytes in high clone burden (>50%) and low clone burden (≤50%) groups were 7.78%±5.51% and 3.45%±3.34%, 56.06±14. 28 g/L and 76.40±24.44 g/L, (1.82±0.48)×1012/L and (2. 32±0.66)×1012/L, respectively (all P <0.05). CD4 + T lymphocytes of MDS patients and normal controls were (0. 274±0.719)×109/L and (0.455±0.206)×109/L, respectively (P<0.05). CD8 ± T lymphocytes of MDS patients and normal controls were (0.240±0.150)×109/L and (0.305 ±0.145)×109/L, respectively. The serum level of interleukin-2 of MDS patients (6.29±3.58 ng/mL) was significantly higher than normal control (3.11±1.40ng/mL, P<0.05). The serum level of TNF of MDS patients and normal control group were 2.42±1.79 ng/mL and 1.68 ±0.69 ng/mL, respectively. The ratio of CD4 to CD8 was higher in high clone burden MDS patients (1.90 ±0.52) than that in low clone burden patients (0.97±0.44, P<0.05).Conclusion The quantitive clonal karyotype abnormalities and deficient T cell immunity are important parameters for evaluating MDS severity and predicting its

  9. The karyotype of three Brazilian Terrarana frogs (Amphibia, Anura with evidence of a new Barycholos species

    Directory of Open Access Journals (Sweden)

    Sérgio Siqueira

    2009-01-01

    Full Text Available A recent substantial rearrangement of the 882 described eleutherodactyline frog species has considerably improved the understanding of their systematics. Nevertheless, many taxonomic aspects of the South American eleutherodactyline species remain unknown and require further investigation using morphological, cytogenetic and molecular approaches. In this work, the karyotypes of the Brazilian species Ischnocnema juipoca (Atibaia and Campos do Jordão, SP, Barycholos cf. ternetzi (Uberlândia, MG, and Porto Nacional, TO, and Pristimantis crepitans (Chapada dos Guimarães and São Vicente, MT were analyzed using Giemsa staining, Ag-NOR labeling, and C-banding techniques. All individuals had a diploid number of 22 chromosomes, but the Fundamental Numbers were different among species. The herein described low chromosome number of Pristimantis crepitans is unique within this genus, suggesting that cytogenetically this species is not closely related either to its congeneric species or to Ischnocnema. In addition, karyotype differences, mainly in the NOR position, clearly distinguished the two Barycholos populations, besides indicating the existence of a so far undescribed species in this genus. A taxonomic review could clarify the systematic position of P. crepitans and verify the hypothetic new Barycholos species.

  10. The mosaic of ancestral karyotype blocks in the Sinapis alba L. genome.

    Science.gov (United States)

    Nelson, Matthew N; Parkin, Isobel A P; Lydiate, Derek J

    2011-01-01

    The organisation of the Sinapis alba genome, comprising 12 linkage groups (n = 12), was compared with the Brassicaceae ancestral karyotype (AK) genomic blocks previously described in other crucifer species. Most of the S. alba genome falls into conserved triplicated genomic blocks that closely match the AK-defined genomic blocks found in other crucifer species including the A, B, and C genomes of closely related Brassica species. In one instance, an S. alba linkage group (S05) was completely collinear with one AK chromosome (AK1), the first time this has been observed in a member of the Brassiceae tribe. However, as observed for other members of the Brassiceae tribe, ancestral genomic blocks were fragmented in the S. alba genome, supporting previously reported comparative chromosome painting describing rearrangements of the AK karyotype prior to the divergence of the Brassiceae from other crucifers. The presented data also refute previous phylogenetic reports that suggest S. alba was more closely related to Brassica nigra (B genome) than to B. rapa (A genome) and B. oleracea (C genome). A comparison of the S. alba and Arabidopsis thaliana genomes revealed many regions of conserved gene order, which will facilitate access to the rich genomic resources available in the model species A. thaliana for genetic research in the less well-resourced crop species S. alba.

  11. Karyotype composition of some rodents and marsupials from Chapada Diamantina (Bahia, Brasil

    Directory of Open Access Journals (Sweden)

    LG. Pereira

    Full Text Available The Chapada Diamantina (CD is located in Bahia State, between 11-14° S and 41-43° W, being part of the Serra do Espinhaço. The occurrence of different habitats and transition areas permits an interesting mammal fauna composition, with species from different biomes living in sympatry. Species of Didelphimorphia and Rodentia are important members of mammal communities in almost all different habitats, and morphological and cytogenetic characters are important for a correct identification of most of these species. In this work 258 specimens of small mammals from the orders Didelphimorphia (six genera and six species and Rodentia (two families, five Sigmodontinae tribes, nine genera and 11 species were collected during the whole field work (44 nights with traps. Chromosome preparations were obtained from 145 specimens from the species: Marmosops incanus, Gracilinanus microtarsus, Monodelphis domestica, Akodon aff. cursor, Necromys lasiurus, Cerradomys sp., Oligoryzomys fornesi, O. nigripes, O. rupestris, Calomys expulsus, Rhipidomys macrurus, Wiedomys pyrrhorhinus and Thrichomys inermis. Didelphis albiventris, Micoureus demerarae, Thylamys karymii and Nectomys sp. were identified by morphological characters. Most analyzed specimens do not show karyotype variation. However, numerical chromosomic variation was found in two individuals of Akodon aff. cursor (2n = 15 and in one individual of Cerradomys sp. (2n = 51. Structural variation in karyotype was observed in seven individuals of Cerradomys sp., showing one additional pair of metacentric chromosomes.

  12. Chromosomes and karyotype analysis of a liver fluke, Opisthorchis viverrini, by scanning electron microscopy.

    Science.gov (United States)

    Kaewkong, Worasak; Choochote, Wej; Kanla, Pipatpong; Maleewong, Wanchai; Intapan, Pewpan M; Wongkham, Sopit; Wongkham, Chaisiri

    2012-09-01

    Opisthorchis viverrini, a human liver fluke, has been categorized as the carcinogenic organism according to the strong association with carcinogenesis of cholangiocarcinoma (CCA). The infection of this food-borne parasite is a major impact on the health of humans, especially CCA patients in the northeast of Thailand. Taxonomy, morphology, epidemiology and molecular study of O. viverrini have been publicized increasingly but the precise karyotypic study is still incomplete. In this study, the chromosomes of O. viverrini were prepared from the testes of adult worms retrieved from metacercariae infected-hamsters. The chromosomes of O. viverrini were identified in haploid (n=6) meiotic metaphase and in diploid (2n=12) mitotic metaphase by light microscopy. The chromosome number, length and nomenclature of each chromosome were determined by scanning electron microscopy. The six chromosomes consist of one large-sized metacentric, one medium-sized metacentric, two small-sized metacentric, one small-sized submetacentric and one small-sized acrocentric chromosomes with the lengths of 2.84±0.03, 2.12±0.10, 1.71±0.13, 1.44±0.04, 1.23±0.03 and 0.84±0.13 μm, respectively. This is the first karyotype analysis of O. viverrini with defined complete nomenclature.

  13. The Karyotypes,C-banding Patterns and AgNORs of Epinephelus malabaricus

    Institute of Scientific and Technical Information of China (English)

    Zou Jixing(邹记兴); Hu Chaoqun; Xiang Wenzhou; Yu Qixing; Zhou Fei

    2004-01-01

    The chromosome specimens of Epinephelus malabaricus (Bloch & Schneider, 1801) are obtained from metaphase of kindney cell by vivi-injection of PHA and culture of colchicines, hypatoic-air drying technique, and then by studying their Giemsa stain, C-bands and AgNORs. The results are as follows: (1)E. malabaricus has a diploid chromosome number of 48 and its karyotype formula is 48t, NF=48, sex chromosome is not found. (2) There is a pair of chromosomes with secondary constriction near the centromere of chromosome t24. (3) 1~4 nucleoli appear in the nucleus of interphase, 55% nuclei has 1 nucleolus and only 2% for 4 nucleoli. (4) AgNORs appear in the chromosome t24 of 50% metaphase, sometimes in the chromosome t5, but not in other chromosomes. (5) The AgNORs polymorphisms are individually specific, 1~4 pairs of the number, and the frequency of 4 AgNORs are lowest. (6) The secondary constrictions and positive C-bands are coincident, close to the centromere of the chromosome, and mass constrictive heterochromatins appear in that region. (7) All the centromeres of chromosomes are darkly stained C-bands, and the whole arm of chromosome t24 and its centromere are same positive C-bands. (8) The evolutive regulation of the karyotype and the developing mechanism of AgNORs and C-bands are discussed.

  14. Scaling Chromosomes for an Evolutionary Karyotype: A Chromosomal Tradeoff between Size and Number across Woody Species.

    Science.gov (United States)

    Liang, Guolu; Chen, Hong

    2015-01-01

    This study aims to examine the expected scaling relationships between chromosome size and number across woody species and to clarify the importance of the scaling for the maintenance of chromosome diversity by analyzing the scaling at the inter- & intra-chromosomal level. To achieve for the goals, chromosome trait data were extracted for 191 woody species (including 56 evergreen species and 135 deciduous species) from the available literature. Cross-species analyses revealed a tradeoff among chromosomes between chromosome size and number, demonstrating there is selective mechanism crossing chromosomes among woody species. And the explanations for the result were presented from intra- to inter-chromosome contexts that the scaling may be compromises among scale symmetry, mechanical requirements, and resource allocation across chromosomes. Therein, a 3/4 scaling pattern was observed between total chromosomes and m-chromosomes within nucleus which may imply total chromosomes may evolve from more to less. In addition, the primary evolutionary trend of karyotype and the role of m-chromosomes in the process of karyotype evolution were also discussed.

  15. Differential staining and microchromosomal variation in karyotypes of four Brazilian species of Tupinambinae lizards (Squamata: Teiidae).

    Science.gov (United States)

    dos Santos, Rodrigo Marques Lima; Rodrigues, Miguel Trefaut; Yonenaga-Yassuda, Yatiyo; Pellegrino, Katia Cristina Machado

    2008-11-01

    Kayotypes of four neotropical teiid lizard species (Tupinambinae) were herein studied after conventional as well as silver staining and CBG-banding: Crocodilurus amazonicus (2n = 34), Tupinambis teguixin (2n = 36), Tupinambis merianae and Tupinambis quadrilineatus (2n = 38). The karyological data for T. quadrilineatus as well as those obtained using differential staining for all species were unknown until now. The karyotypes of all species presented 12 macrochromosomes identical in morphology, but differed in the number of microchromosomes: 22 in C. amazonicus, 24 in T. teguixin and 26 in T. quadrilineatus and T. merianae. The Ag-NOR located at the secondary constriction at the distal end of pair 2 is shared by all species, contrasting with the variability observed for this character in species of the related Teiinae. CBG-banding revealed a species-specific pattern in T. quadrilineatus with conspicuous interstitial C-blocks at the proximal region of the long arm of pair 4 and the whole heterochromatic short arm of pair 6. The karyological data reported here corroborates the relationship hypothesis obtained for Tupinambis based on molecular characters. T. teguixin presents the putative ancestral karyotype for the genus with 2n = 36 whereas T. merianae and T. quadrilineatus exhibit 2n = 38, due to an additional pair of microchromosomes.

  16. Tetraploid partial hydatidiform moles: two cases with a triple paternal contribution and a 92,XXXY karyotype.

    Science.gov (United States)

    Surti, U; Szulman, A E; Wagner, K; Leppert, M; O'Brien, S J

    1986-01-01

    In the course of a systematic study of cytogenetics, morphology, and clinical follow-up of hydatidiform moles we encountered two unusual cases of partial hydatidiform moles each with a 92,XXXY karyotype. Previously reported cases of tetraploidy, of 92,XXXX or 92,XXYY karyotype, resulted from a failure of the first mitotic division of a normal zygote. This is to our knowledge the first report of tetraploidy with XXXY sex chromosomes. Study of chromosomal heteromorphisms, isozymes, and restriction fragment length polymorphisms reveal that both present cases resulted from a combination of a haploid ovum with three haploid sets of paternal chromosomes either by the mechanism of trispermy (involving three separate haploid spermatozoa) or through dispermy (involving one haploid and one diploid sperm). Both cases resembled closely partial moles in their morphology; one gave a highly typical clinical picture while the other was recognized at an early voluntary abortion. Partial moles are ordinarily triploids of nearly always diandric constitution that evince focal villous swelling with cistern formation and focal trophoblastic hyperplasia. The findings here presented point to an association of molar phenotype with an excess of paternal over maternal haploid sets.

  17. Karyotype differentiation in three species of Tripogandra Raf. (Commelinaceae with different ploidy levels

    Directory of Open Access Journals (Sweden)

    André Marques

    2010-01-01

    Full Text Available Most species of the genus Tripogandra (Commelinaceae are taxonomically poorly circumscribed, in spite of having a relatively stable basic number x = 8. Aiming to estimate the cytological variation among Tripogandra species carrying this base number, several structural karyotypic characters were investigated in the diploid T. glandulosa, the hexaploid T. serrulata, and the octoploid T. diuretica. A careful evaluation of chromosome size and morphology did not reveal clear chromosome homeologies among karyotypes. The mean chromosome size was strongly reduced in the octoploid species, but not in the hexaploid species. They also differed largely in the CMA+ banding pattern and in the number of 5S and 45S rDNA sites per monoploid chromosome complement. All three species showed proximal DAPI+ heterochromatin, although in T. serrulata this kind of heterochromatin was only visible after FISH. Further, the meiosis in T. serrulata was highly irregular, suggesting that this species has a hybrid origin. The data indicate that, in spite of the conservation of the base number, these species are karyologically quite different from each other.

  18. Banded karyotype of the Konya wild sheep (Ovis orientalis anatolica Valenciennes, 1856 from Turkey

    Directory of Open Access Journals (Sweden)

    Jan Zima

    2011-07-01

    Full Text Available The karyotype, C-banding, and nucleoar organizer regions (NORs of eight specimens of Konya wild sheep from Turkey were examined. The complement included six large metacentric autosomes, 46 acrocentric autosomes of decreasing size, a medium-sized acrocentric X chromosome, and a small bi-armed Y chromosome (the diploid chromosome number 2n=54, the number of autosomal arms NFa=58, the number of chromosome arms NF=61. G-banding allowed reliable identification of all the chromosome pairs and the pairing of homologous elements. All the autosomes possessed distinct centromeric or pericentromeric C-positive bands. The X chromosome had a pericentromeric C-positive band, and the Y chromosome was entirely C-heterochromatic. The NORs were located in the terminal regions of the long arms of three metacentric and two acrocentric autosomes. The karyotype of the Konya wild sheep and its banding patterns are quite similar to chromosome complement reported in domestic sheep and European mouflon.

  19. Karyotypic evolution of ribosomal sites in buffalo subspecies and their crossbreed

    Directory of Open Access Journals (Sweden)

    Tiago Marafiga Degrandi

    2014-06-01

    Full Text Available Domestic buffaloes are divided into two group based on cytogenetic characteristics and habitats: the "river buffaloes" with 2n = 50 and the "swamp buffaloes", 2n = 48. Nevertheless, their hybrids are viable, fertile and identified by a 2n = 49. In order to have a better characterization of these different cytotypes of buffaloes, and considering that NOR-bearing chromosomes are involved in the rearrangements responsible for the karyotypic differences, we applied silver staining (Ag-NOR and performed fluorescent in situ hybridization (FISH experiments using 18S rDNA as probe. Metaphases were obtained through blood lymphocyte culture of 21 individuals, including river, swamp and hybrid cytotypes. Ag-NOR staining revealed active NORs on six chromosome pairs (3p, 4p, 6, 21, 23, 24 in the river buffaloes, whereas the swamp buffaloes presented only five NOR-bearing pairs (4p, 6, 20, 22, 23. The F1 crossbreed had 11 chromosomes with active NORs, indicating expression of both parental chromosomes. FISH analysis confirmed the numerical divergence identified with Ag-NOR. This result is explained by the loss of the NOR located on chromosome 4p in the river buffalo, which is involved in the tandem fusion with chromosome 9 in this subspecies. A comparison with the ancestral cattle karyotype suggests that the NOR found on the 3p of the river buffalo may have originated from a duplication of ribosomal genes, resulting in the formation of new NOR sites in this subspecies.

  20. The first karyotype study in palpigrades, a primitive order of arachnids (Arachnida: Palpigradi).

    Science.gov (United States)

    Král, Jirí; Kovác, L'ubomír; St'áhlavský, Frantisek; Lonský, Petr; L'uptácik, Peter

    2008-09-01

    Chromosomes of palpigrades (Arachnida: Palpigradi), a rare arachnid order with numerous primitive characters, were studied for the first time. We analysed two species of the genus Eukoenenia, namely E. spelaea and E. mirabilis. Their karyotypes are uniform, consisting of a low number of tiny chromosomes that decrease gradually in size. Study of the palpigrade karyotype did not reveal morphologically differentiated sex chromosomes. Analysis of E. spelaea showed that constitutive heterochromatin is scarce, GC-rich, and restricted mostly to presumed centromeric regions. Meiosis is remarkable for the presence of a short diffuse stage and prominent nucleolar activity. During prophase I, nuclei contain a large nucleolus. Prominent knob at the end of one bivalent formed by constitutive heterochromatin is associated to the nucleolus by an adjacent NOR. Presence of a nucleolus-like body at male prophase II suggests activity of NOR also during beginning of the second meiotic division. The data suggest acrocentric morphology of palpigrade chromosomes. Palpigrades do not display holocentric chromosomes which appear to be apomorphic features of a number of arachnid groups. These are: acariform mites, buthid scorpions, and spiders of the superfamily Dysderoidea. Therefore, cytogenetic data do not support a close relationship of palpigrades and acariform mites as suggested previously.

  1. Evidence of separate karyotype evolutionary pathway in Euglossa orchid bees by cytogenetic analyses

    Directory of Open Access Journals (Sweden)

    ANDERSON FERNANDES

    2013-09-01

    Full Text Available Euglossini are solitary bees considered important pollinators of many orchid species. Information regarding chromosome organization is available for only a small number of species in this group. In the present work, the species Euglossa townsendi and E. carolina were analyzed by cytogenetic techniques to collect information that may aid the understanding of their evolution and chromosomal organization. The chromosome number found was n = 21 for males and 2n = 42 for females in the two species. The distribution and amount of heterochromatin regions differed in the two species analyzed, where they were classified as “high” or “low” heterochromatin content, similarly to what has already been performed in social bee species of the genus Melipona. Banding patterns found in this study suggest that other mechanisms may have occurred in the karyotype evolution of this group, unlike those suggested for social bees and ants. Karyotype evolution of solitary bees appears to have occurred as an event separate from other hymenopterans and did not involve chromosome fissions and heterochromatin amplification.

  2. Variation of morphology, karyotype and protein band pattern of adenium (Adenium obesum varieties

    Directory of Open Access Journals (Sweden)

    PRABANG SETYONO

    2009-07-01

    Full Text Available Hastuti D, Suranto, Setyono P. 2009. Variation of morphology, karyotype and protein band pattern of adenium (Adenium obesum varieties. Nusantara Bioscience 1: 78-83. The aim of this research to find out the Adenium obesum variation from six varieties, namely: obesum, cery, red lucas, red fanta , white bigben and harry potter based on morphology, karyotype, as well as protein banding pattern. The chromosome preparation was made using semi-permanent squash method from the tip of root plant; while protein banding pattern was made using SDS-PAGE method. Qualitative data included shape and color of the leave and flower described from each variety. Data were presented in morphometry and analyzed using ANOVA and then followed by DMRT with 5% of confidence levels, indicated significance difference. Protein banding pattern, the root, stem, leave and all organs were analyzed using Hierarchical Cluster Analysis method with Average Linkage (between Groups using SPSS 10.0. The result of research shows that the six A. obesum varieties have morphological character with no variation of light green to dark green leave, not hairy, smooth leave bone, meanwhile for light red to dark red flower crown color although some of them are white and the same funnel color, yellow. All varieties of A. obesum have same number of chromosome, 2n = 22 and shows the difference ranging from 2.56 to 5.13 um. In the banding pattern formed qualitatively, there is variation among the six varieties.

  3. Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman.

    Science.gov (United States)

    Al-Alawi, Intisar; Goud, Tadakal Mallana; Al-Harasi, Salma; Rajab, Anna

    2016-02-01

    The aim of this study was to evaluate cytogenetic findings in Omani patients who had been referred for suspicion of sex chromosome abnormalities that resulted in different clinical disorders. Furthermore, it sought to examine the frequency of chromosomal anomalies in these patients and to compare the obtained results with those reported elsewhere. Cytogenetic analysis was performed on 1232 cases with variant characteristics of sexual development disorders who had been referred to the cytogenetic department, National Genetic Centre, Ministry of Health, from different hospitals in the Sultanate of Oman between 1999 and 2014. The karyotype results demonstrated chromosomal anomalies in 24.2% of the cases, where 67.5% of abnormalities were identified in referral females, whereas only 32.6% were in referral males. Of all sex chromosome anomalies detected, Turner syndrome was the most frequent (38.2%) followed by Klinefelter syndrome (24.9%) and XY phenotypic females (16%). XXX syndrome and XX phenotypic males represented 6.8% and 3.8% of all sex chromosome anomalies, respectively. Cytogenetic analysis of patients referred with various clinical suspicions of chromosomal abnormalities revealed a high rate of chromosomal anomalies. This is the first broad cytogenetic study reporting combined frequencies of sex chromosome anomalies in sex development disorders in Oman.

  4. Karyotypic analyses and morphological comments on the endemic and endangered Brazilian painted tree rat Callistomys pictus (Rodentia, Echimyidae

    Directory of Open Access Journals (Sweden)

    Karen Ventura

    2008-01-01

    Full Text Available The genus Callistomys belongs to the rodent family Echimyidae, subfamily Echimyinae, and its only living representative is Callistomys pictus, a rare and vulnerable endemic species of the state of Bahia, Brazil. Callistomys has been previously classified as Nelomys, Loncheres, Isothrix and Echimys. In this paper we present the karyotype of Callistomys pictus, including CBG and GTG-banding patterns and silver staining of the nucleolus organizer regions (Ag-NORs. Comments on Callistomys pictus morphological traits and a compilation of Echimyinae chromosomal data are also included. Our analyses revealed that Callistomys can be recognized both by its distintinctive morphology and by its karyotype.

  5. Preferential accumulation of sex and Bs chromosomes in biarmed karyotypes by meiotic drive and rates of chromosomal changes in fishes.

    Science.gov (United States)

    Molina, Wagner F; Martinez, Pablo A; Bertollo, Luiz A C; Bidau, Claudio J

    2014-12-01

    Mechanisms of accumulation based on typical centromeric drive or of chromosomes carrying pericentric inversions are adjusted to the general karyotype differentiation in the principal Actinopterygii orders. Here, we show that meiotic drive in fish is also supported by preferential establishment of sex chromosome systems and B chromosomes in orders with predominantly bi-brachial chromosomes. The mosaic of trends acting at an infra-familiar level in fish could be explained as the interaction of the directional process of meiotic drive as background, modulated on a smaller scale by adaptive factors or specific karyotypic properties of each group, as proposed for the orthoselection model.

  6. Karyotyping of Brassica napus L. Based on C0t-1 DNA Banding by Fluorescence In Situ Hybridization

    Institute of Scientific and Technical Information of China (English)

    Wen-Hui WEI; Wan-Peng ZHAO; Li-Jun WANG; Bo CHEN; Yun-Chang LI; Yun-Chun SONG

    2005-01-01

    In order to precisely recognize and karyotype Brassica napus L. chromosomes, C0t- 1 DNA was extracted from its genomic DNA, labeled with biotin- 11-dUTP and in situ hybridized. The hybridized locations were detected by Cy3-conjugated streptavidin. Specific fluorescence in situ hybridization (FISH)signal bands were detected on all individual chromosome pairs. Each chromosome pair showed specific banding patterns. The B. napus karyotype has been constructed, for the first time, on the basis of both C0t-1 DNA FISH banding patterns and chromosome morphology.

  7. Abnormal oral habits in the children of war veterans.

    Science.gov (United States)

    Yassaei, S; Rafieian, M; Ghafari, R

    2005-01-01

    Any kind of stress has a negative effect on the mood of people and stress resulting from war is no exception. Stress from war has not only has effects on war veterans but also on the families. Children of these families have been more susceptible to abnormal oral habits. In this observational, analytical and historical research, attempts have been made to determine the prevalence of abnormal oral habits in the children of war veterans (martyrs, freed prisoners of war and war cripples) and compare them with a control group. In this study of 520 children aged between 7 and 11 years were (238 in the study group and 282 in the control group), information was gathered via a questionnaire completed by the mothers of the students. Analysis of the received information showed that the prevalence of para functional and abnormal oral habits was more in the study group (P = 0.005). The prevalence rate was highest in children, whose family members had been both crippled and freed prisoners of war, while the rate was lowest in children whose parents had been only prisoners of war without any lasting physical injury. Most of these children had acquired these habits at the age of seven and these abnormal habits were most prevalent in children aged eight and nine.

  8. 中山地区羊水细胞培养核型分析联合荧光原位杂交技术在产前诊断中的应用%The combined application of karyotype analysis of chromosome in amniotic fluid cells and fish in prenatal diagnosis in Zhongshan District

    Institute of Scientific and Technical Information of China (English)

    苏年华; 季明芳; 陈慧

    2016-01-01

    Objective:To explore the applications value of karyotype analysis of chromosome in amniotic fluid cells and fluorescence in situ hybridization (FISH) in prenatal diagnosis.Methods:369 samples of amniotic fluid from women during 16-22th-week gestation and with the indications of prenatal diagnosis were cultured and performed both karyotype analysis of chromosome and FISH using the 13/18/21/X/Y chromosome probe.Results:The success rate of karyotype analysis of chromosome in amniotic fluid cells culture was 98.37% (363 in 369 cases).336 cases of normal variation of chromosome and 27 cases of abnormal variation of chromosome (numerical abnormalities chromosome in 18 cases,and structural abnormalities chromosome in 9 cases) were detected.The success rate of FISH detection of amniotic fluid cells culture was 100.00%,which included 351 cases of normal variation of chromosome and 18 cases of numerical abnormal variation of chromosome.However,there were no cases of structural abnormalities chromosome detected in FISH,due to the limited detecting probe.Conclusion:The karyotype analysis and FISH detection showed good consistency in detection of abnormal chromosome numbers (aneuploidy) in amniotic fluid cells culture.Furthermore,the former was more comprehensive with higher detection rate,and the latter was more convenient with shorter operating time and less operating steps.To combined apply karyotype analysis and FISH in amniotic fluid cells can be more effective for fetal chromosome abnormalities in prenatal diagnosis.%目的 探索羊水细胞培养核型分析联合荧光原位杂交技术(FISH)在产前诊断中的应用价值;方法 采集16~22孕周、有产前诊断指征孕妇的羊水标本369例,进行羊水细胞培养核型分析并同时采用13/18/21/X/Y染色体探针对未培养羊水进行FISH检测;结果 369例羊水细胞培养核型分析成功363例,异常27例(数目异常18例,结构异常9例);未培养羊水细胞FISH检测

  9. Comparison of the Giemsa C-banded and N-banded karyotypes of two Elymus species, E. dentatus and E. glaucescens (Poaceae; Triticeae)

    DEFF Research Database (Denmark)

    Linde-Laursen, I.; Seberg, O.; Salomon, B.

    1994-01-01

    The karyotypes of Elymus dentatus from Kashmir and E. glaucescens from Tierra del Fuego, both carrying genomes S and H, were investigated by C- and N-banding. Both taxa had 2n = 4x = 28. The karyotype of E. dentatus was symmetrical with large chromosomes. It had 18 metacentric, four submetacentric...

  10. Nail abnormalities in rheumatoid arthritis.

    Science.gov (United States)

    Michel, C; Cribier, B; Sibilia, J; Kuntz, J L; Grosshans, E

    1997-12-01

    Many nail abnormalities have traditionally been described in association with rheumatoid arthritis (RA), but their specificity has never been assessed in a controlled study. Our purpose was to evaluate the frequency and the specificity of nail changes associated with RA in a case-controlled study including 50 patients suffering from RA and 50 controls. For each patient, a general skin examination was performed and the 20 nails were examined. The nail features were noted and classified. A chi 2 test or a Fisher test was used to compare the two groups. The only nail abnormalities significantly associated with RA were longitudinal ridging on nine or 10 finger nails (29 patients in the RA group vs. three in the controls, chi 2: P nail (24 patients vs. 10, chi 2: P nail changes were noticed but were not frequent enough to be significant. The presence of longitudinal ridging on the finger nails was significantly associated with RA.

  11. Neuroendocrine abnormalities in Parkinson's disease.

    Science.gov (United States)

    De Pablo-Fernández, Eduardo; Breen, David P; Bouloux, Pierre M; Barker, Roger A; Foltynie, Thomas; Warner, Thomas T

    2017-02-01

    Neuroendocrine abnormalities are common in Parkinson's disease (PD) and include disruption of melatonin secretion, disturbances of glucose, insulin resistance and bone metabolism, and body weight changes. They have been associated with multiple non-motor symptoms in PD and have important clinical consequences, including therapeutics. Some of the underlying mechanisms have been implicated in the pathogenesis of PD and represent promising targets for the development of disease biomarkers and neuroprotective therapies. In this systems-based review, we describe clinically relevant neuroendocrine abnormalities in Parkinson's disease to highlight their role in overall phenotype. We discuss pathophysiological mechanisms, clinical implications, and pharmacological and non-pharmacological interventions based on the current evidence. We also review recent advances in the field, focusing on the potential targets for development of neuroprotective drugs in Parkinson's disease and suggest future areas for research.

  12. CT and MR imaging of odontoid abnormalities: A pictorial review

    Directory of Open Access Journals (Sweden)

    Nishchint Jain

    2016-01-01

    Full Text Available Odontoid process is the central pillar of the craniovertebral junction. Imaging of this small structure continues to be a challenge for the radiologists due to complex bony and ligamentous anatomy. A wide range of developmental and acquired abnormalities of odontoid have been identified. Their accurate radiologic evaluation is important as different lesions have markedly different clinical course, patient management, and prognosis. This article seeks to provide knowledge for interpreting appearances of odontoid on computed tomography (CT and magnetic resonance imaging (MRI with respect to various disease processes, along with providing a quick review of the embryology and relevant anatomy.

  13. Radiological appearances of sinonasal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    El-Beltagi, A.H.; Sobeih, A.A.; Valvoda, M.; Dahniya, M.H.; Badr, S.S

    2002-08-01

    The aim of this pictorial review is to present a variety of abnormalities of the sinonasal cavities to emphasize the diversity of lesions occurring in this region. These include congenital, neoplastic and granulomatous disorders and some allergic and inflammatory lesions with uncommon radiological appearances, as well as expanding lesions of the facial bones or of dental origin with secondary involvement of the related sinus(es). El-Beltagi, A.H. et al. (2002). Clinical Radiology 57, 702-718.

  14. Computed tomography of thymic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Schnyder, P.; Candardjis, G.

    1987-05-01

    Computed tomographic examinations of 38 patients with surgically and histologically proven diagnosis were reviewed. Twenty subjects (52%) had an invasive thymoma and 16% an hyperplastic thymus. Myasthenia gravis was present in 6 cases (16%) of thymic abnormalities, four (10,5%) with invasive thymoma and two (5%) with thymic hyperplasia. Graves' disease was also present in one case of thymic hyperplasia. We emphasize the contribution of CT to the diagnosis and the prognosis.

  15. 17 CFR 210.8-04 - Financial statements of businesses acquired or to be acquired.

    Science.gov (United States)

    2010-04-01

    ... businesses acquired or to be acquired. (a) If a business combination has occurred or is probable, financial... section. The required financial statements of related businesses may be presented on a combined basis for... financial statements of the business acquired or to be acquired and the smaller reporting company's...

  16. Application and evaluation of invasive prenatal diagnostic techniques and analysis of chromosomal karyotype%两种侵入性产前诊断技术的评估及染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    王丽琼; 王新; 张绍菱; 周仲民; 朱付凡; 丁依玲

    2013-01-01

    目的:系统评估现有的侵入性产前诊断技术的安全性、有效性及其手术并发症的发生率,并对产前诊断指征及各种异常核型的临床意义进行探讨.方法:回顾性总结分析2005年3月至2012年5月中南大学湘雅二医院产前诊断中心所进行的羊膜腔穿刺、脐静脉穿刺的病例并分析其手术指征、成功率、安全性和并发症等情况;对25例异常染色体核型进行分析.结果:2005年3月至2012年5月共对669例孕妇进行了侵入性产前诊断,其中羊膜腔穿刺组598例,脐静脉穿刺组71例,与脐静脉穿刺组比较,羊膜腔穿刺组有更高的穿刺成功率(91.54% vs 100%,P<0.05),更低的流产率(1.41% vs 0.33%,P<0.05)、异常染色体发现率(11.27% vs 2.84%,P<0.05)及医疗费用(880元vs800元,P<0.05).羊膜腔穿刺术及脐静脉穿刺的产前诊断指征前3位均为唐筛高风险、高龄孕妇、超声检查异常.侵入性产前诊断共发现异常染色体25例,其中21-三体6例,性染色体数目异常4例,常染色体平衡易位7例,标记染色体1例,嵌合体7例.结论:羊膜腔穿刺作为成熟的产前诊断取材技术其临床应用是安全有效的;脐静脉穿刺的手术并发症发生率远高于羊膜腔穿刺不应作为染色体异常产前诊断的常规手段.染色体核型分析不仅能及时发现胎儿染色体异常,而且能为孕妇是否继续妊娠提供科学依据,有利于降低出生缺陷的发生率.%Objective:To evaluate the safety,effectiveness and complications of serial invasive prenatal diagnostic techniques,and to investigate the prenatal diagnosis indication as well as to analyze the abnormal chromosomal karyotype.Methods:We retrospectively studied all patients from March 2005 to May 2012 who received amniocentesis and cordocentesis in the prenatal diagnosis center of Second Xiangya Hospital.The indication of the procedure,successful rate and complications were evaluated,and 25 abnormal

  17. Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

    Directory of Open Access Journals (Sweden)

    Jonathon Blake

    Full Text Available Balanced chromosome abnormalities (BCAs occur at a high frequency in healthy and diseased individuals, but cost-efficient strategies to identify BCAs and evaluate whether they contribute to a phenotype have not yet become widespread. Here we apply genome-wide mate-pair library sequencing to characterize structural variation in a patient with unclear neurodevelopmental disease (NDD and complex de novo BCAs at the karyotype level. Nucleotide-level characterization of the clinically described BCA breakpoints revealed disruption of at least three NDD candidate genes (LINC00299, NUP205, PSMD14 that gave rise to abnormal mRNAs and could be assumed as disease-causing. However, unbiased genome-wide analysis of the sequencing data for cryptic structural variation was key to reveal an additional submicroscopic inversion that truncates the schizophrenia- and bipolar disorder-associated brain transcription factor ZNF804A as an equally likely NDD-driving gene. Deep sequencing of fluorescent-sorted wild-type and derivative chromosomes confirmed the clinically undetected BCA. Moreover, deep sequencing further validated a high accuracy of mate-pair library sequencing to detect structural variants larger than 10 kB, proposing that this approach is powerful for clinical-grade genome-wide structural variant detection. Our study supports previous evidence for a role of ZNF804A in NDD and highlights the need for a more comprehensive assessment of structural variation in karyotypically abnormal individuals and patients with neurocognitive disease to avoid diagnostic deception.

  18. Fluorescence in situ hybridization and aminocytes karyotyping for 1809 aminotic cells assay%1809份羊水细胞荧光原位杂交技术与核型检测结果分析

    Institute of Scientific and Technical Information of China (English)

    于丽; 付杰; 马京梅; 李昶; 潘虹; 杨慧霞

    2014-01-01

    目的:探讨荧光原位杂交( FISH)技术联合羊水细胞培养在检测胎儿染色体异常的临床应用价值。方法回顾性总结2012年7月1日至2013年12月31日在北京大学第一医院就诊的1809例孕17~38周进行FISH产前诊断妊娠妇女的详细临床资料及随访信息。羊水间期细胞选用13、18、21、X、Y特异性探针检测,同时进行常规羊水细胞培养核型分析,将两者结果进行对照分析。结果1809份羊水间期细胞FISH检测均成功,其中检出正常核型1767例,非整倍体39例、三倍体1例、嵌合体2例,与常规细胞染色体核型分析结果一致,另外34例结构异常、5例嵌合体及12例正常变异FISH技术未能检出。结论 FISH技术检测胎儿常见染色体数目异常具有快速简便、准确率高等优点,FISH技术联合羊水细胞培养能够更好的服务于产前诊断。%Objective To analyze the clinical application of fluorescence in situ hybridization ( FISH) and karyotype analysis in prenatal diagnosis of chromosomal abnormalities .Methods The prenatal diagnosis of chromosome aneuploidies by FISH analysis of chromosome-specific probes (chromosome 13,18, 21,X,Y) in interphase amniocytes of 1 809 pregnant women of 17-38 weeks of gestational age was used , comparisons with the karyotyping results was done simultaneously.All the 1 809 cases came from Peking University First Hospital from July 1,2012 to December 31,2013, and the relevant clinical data and birth follow-up information were collected.Results All the 1 809 cases had been successfully examined by FISH , including 1 767 normal cases and 42 cases of numerical abnormality (39 cases of aneuploid, 1 case of triploid and 2 cases of mosaicism),which were consistent with the karyotyping analysis .What′s more,34 cases of chromosomal structural abnormalities , 5 cases of chimera and 12 cases of normal variant were failed to detected by FISH.Conclusion With the advantages of high

  19. Differential Protein Expression in Congenital and Acquired Cholesteatomas.

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    Seung-Ho Shin

    Full Text Available Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5-3, plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins

  20. Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and the relationships with polymorphic karyotype and seminal parameters

    OpenAIRE

    Zaida Sarrate; Francesca Vidal; Joan Blanco

    2014-01-01

    The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The ...

  1. The karyotype of Festucopsis serpentini (Poaceae Triticeae) from Albania studied by banding techniques and in situ hybridization

    DEFF Research Database (Denmark)

    Linde-Laursen, I.; Seberg, O.; Frederiksen, S.;

    1996-01-01

    The karyotypes of two populations of Festucopsis serpentini (2n = 2x = 14) endemic to Albania were investigated in detail by Giemsa C- and N-banding, AgNO3 staining, and in situ hybridization with an rDNA probe. The complements consisted of 14 large chromosomes, 10 metacentric and 4 SAT-chromosom...

  2. Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes

    DEFF Research Database (Denmark)

    Aksglaede, L.; Jensen, Rikke Bodin Beck; Carlsen, E.;

    2008-01-01

    basal, pulsatile, and total LH and FSH secretion were associated with significantly more LH peaks per 24 h in comparison with healthy controls. Thus, our data indicate that in patients with Klinefelter syndrome and XX male karyotypes the entire hypothalamic-pituitary-gonadal axis has undergone...

  3. 46,XX, der(15,t(Y;15(q12;p11 karyotype in an azoospermic male

    Directory of Open Access Journals (Sweden)

    Serap T Onrat

    2012-01-01

    Full Text Available We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Conventional cytogenetic procedures giemsa trypsin giemsa (GTG and high resolution banding (HRB and molecular cytogenetic techniques Fluorescence In Situ Hybridization (FISH performed on high-resolution lymphocyte chromosomes revealed the karyotype 46,XX, t(Y;15(q12;p11. SRY-gene was confirmed to be present by classical Polymerase Chain Reaction (PCR methods. His father carried de novo derivative chromosome 15 [45,X, t(Y;15(q12;p11] and was fertile; the karyotype of the father using G-band technique confirmed a reciprocal balanced translocation between chromosome Y and 15. In the proband, the der (15 has been inherited from the father because the mother had a normal karyotype (46,XX. In the proband, the der (15 could have produced genetic imbalance leading to unbalanced robertson translocation between chromosome Y and 15, which might have resulted in azoospermia and infertility in the proband. The paternal translocation might have lead to formation of imbalanced ova, which might be resulted infertility in the proband. Sister′s karyotypes was normal (46,XX while his brother was not analyzed.

  4. C-Banding/DAPI and in situ hybridization reflect karyotype structure and sex chromosome differentiation in Humulus japonicus Siebold & Zucc.

    Science.gov (United States)

    Grabowska-Joachimiak, A; Mosiolek, M; Lech, A; Góralski, G

    2011-01-01

    Japanese hop (Humulus japonicus Siebold & Zucc.) was karyotyped by chromosome measurements, fluorescence in situ hybridization with rDNA and telomeric probes, and C-banding/DAPI. The karyotype of this species consists of sex chromosomes (XX in female and XY1Y2 in male plants) and 14 autosomes difficult to distinguish by morphology. The chromosome complement also shows a rather monotonous terminal distribution of telomeric repeats, with the exception of a pair of autosomes possessing an additional cluster of telomeric sequences located within the shorter arm. Using C-banding/DAPI staining and 5S and 45S rDNA probes we constructed a fluorescent karyotype that can be used to distinguish all autosome pairs of this species except for the 2 largest autosome pairs, lacking rDNA signals and having similar size and DAPI-banding patterns. Sex chromosomes of H. japonicus display a unique banding pattern and different DAPI fluorescence intensity. The X chromosome possesses only one brightly stained AT-rich terminal segment, the Y1 has 2 such segments, and the Y2 is completely devoid of DAPI signal. After C-banding/DAPI, both Y chromosomes can be easily distinguished from the rest of the chromosome complement by the increased fluorescence of their arms. We discuss the utility of these methods for studying karyotype and sex chromosome evolution in hops.

  5. Karyotype-specific ear and hearing problems in young adults with turner syndrome and the effect of oxandrolone treatment

    NARCIS (Netherlands)

    Verver, E.J.; Freriks, K.; Sas, T.C.J.; Huygen, P.L.M.; Pennings, R.J.E.; Smeets, D.F.C.M.; Hermus, A.R.M.M.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Velden, J.A.M. van der; Keizer-Schrama, S.M.; Topsakal, V.; Admiraal, R.J.C.; Timmers, H.J.L.M.; Kunst, H.P.M.

    2014-01-01

    OBJECTIVE: To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). STUDY DESIGN: Double-blind follow-up study. SETTING: University hospital. PATIENTS: Sixty-five TS patients (mean ag

  6. Individualized choice in prenatal diagnosis : the impact of karyotyping and standalone rapid aneuploidy detection on quality of life

    NARCIS (Netherlands)

    Boormans, E. M. A.; Birnie, E.; Oepkes, D.; Boekkooi, P. F.; Bonsel, G. J.; van Lith, J. M. M.

    2010-01-01

    Objective To assess the reasons and perceptions of women who are offered a choice between karyotyping and standalone rapid aneuploidy detection (RAD) and to compare the impact of both tests on anxiety and health-related quality of life Methods In this prospective comparative study, women undergoing

  7. Cryptosporidiosis in the acquired immune deficiency syndrome.

    Science.gov (United States)

    Cooper, D A; Wodak, A; Marriot, D J; Harkness, J L; Ralston, M; Hill, A; Penny, R

    1984-10-01

    Cryptosporidiosis was found in a patient with the acquired immune deficiency syndrome. The microbiological and morphological features of this newly recognized opportunistic infection are distinctive and diagnostic.

  8. Karyotype characterization and nucleolar organizer regions of marsupial species (Didelphidae from areas of Cerrado and Atlantic Forest in Brazil

    Directory of Open Access Journals (Sweden)

    Núbia P. Pereira

    2008-01-01

    Full Text Available The karyotypes of 23 specimens belonging to 16 species from nine genera of Brazilian marsupials (family Didelphidae were studied. The animals were collected in eight localities of Cerrado or Atlantic Forest biomes in the states of Goiás, Tocantins and São Paulo. The karyotypes were analyzed after conventional Giemsa staining and silver staining of the nucleolus organizer regions (Ag-NORs. New karyotypic data were obtained for Gracilinanus microtarsus (2n = 14, FN = 24, Marmosops paulensis (2n = 14, FN = 24 , Micoreus paraguayanus (2n = 14, FN = 20 and Monodelphis rubida (2n = 18, FN = 32 and are discussed in detail. The karyotypes of G. microtarsus , M. paulensis and M. paraguayanus include three large pairs of submetacentrics (pairs 1, 2 and 3 and a medium-sized metacentric or submetacentric pair 4. Pairs 5 and 6 are small submetacentrics in G. microtarsus and M. paulensis and acrocentrics in M. paraguayanus . M. paulensis presented a single Ag-NOR in pair 6 (6p6p, while M. paraguayanus exhibited multiple Ag-NORs in pairs 5 and 6 (5pq5pq6p6p. There was variation in size and morphology of the sex chromosomes among these species. Monodelphis rubida presented a karyotype with 2n = 18 and FN = 32 composed of a large submetacentric pair 1, a medium-sized metacentric pair 2 and six pairs of submetacentrics (pairs 3 through 8. The X was a small acrocentric and the Y was dot-like. A single Ag-NOR bearing pair (5p5p characterized M. rubida. Relevant karyotypic information was obtained for 19 specimens belonging to 12 species collected in areas sampled for the first time [ Caluromys lanatus and C. philander (2n = 14, FN = 20, Gracilinanus emiliae (2n = 14, FN = 24, Marmosa murina , Metachirus nudicaudatus and Micoureus demerarae (2n = 14, FN = 20, Monodelphis americana (2n = 18, FN = 32 and M. domestica (2n = 18, FN = 20, and Didelphis marsupialis, Philander frenata, P. opossum and P. sp (2n = 22, FN = 20]. Although the karyotypes were relatively

  9. [The influence of substrate from extracellular matrix proteins on karyotypic variability of the Indian muntjac skin fibroblast two cell lines].

    Science.gov (United States)

    Polianskaia, G G; Kol'tsova, A M

    2013-01-01

    The effect of cell culture conditions on numerical and structural karyotypic variability was investigated in two Indian muntjac skin fibroblast "markerless" cell lines, M and MT. The cells cultivated on the substrate consisting of extracellular matrix proteins (ECM), synthesized by human mesenchymal stem cells (SC5-MSC). The character of cell distribution for chromosome number of cell line M changed after cultivation for 1 and 4 days as compared to control cells, which were cultured on hydrophilic surface without ECM-coating. These changes involve a significant decrease in frequency of cells with modal numbers of chromosomes and an increase in frequency of cells with lower chromosome numbers. Many new types of additional structural variants of the karyotype (SVK) appear. MT cell line, differing from M line in the number of homologous chromosomes, demonstrated similar with M line the character of cell distribution for chromosome number only for 1 day after cultivating on the ECM-substrate, but not after 4 days in the same culture conditions, no difference from the control cells was observed. The observed alterations seem to be due to disturbances in correct chromosome segregation process, which were caused by abrupt shift in the cell culture conditions. The analysis of the structural karyotypic variability revealed significant increase in frequency of chromosomal aberrations in M cell line for 1 and 4 days in culture on the ECM-substrate as compared to the control cells. The frequency of dicentric chromosomes (telomeric associations) was increased and constituted more than 50% of all chromosome aberrations. No increase in frequency of chromosome aberrations was observed for MT cells cultured in the same conditions. The obtained results show that the cell lines of the same origin but of different karyotypic structure react to substrate in a different way. In contrast to M line, in MT line a fast normalization of numerical karyotypic characteristics and no enhancement

  10. 6168例染色体核型分析的产前诊断指征评价%Evaluation of prenatal diagnosis indicators of 6 168 cases of chromosome karyotype analysis

    Institute of Scientific and Technical Information of China (English)

    钟惠珠; 刘晗; 易翠兴; 潘敏; 杨昕; 胡舜妍; 袁思敏; 李东至

    2013-01-01

    Objective To study the value of different prenatal diagnosis indicators in diagnosis of fetal chromosomal abnormalities.Methods 6 168 pregnant women with indications of prenatal diagnosis were subjected to sampling through ultrasound-guided transabdominal puncture and chromosomal karyotype analysis.Detection rates and types of fetal chromosomal abnormalities in different pregnant period and with different indications were compared.Predictive funtion of indications for fetal chromosomal abnormalities were evaluated.Results 370 cases of abnormal karyotype were detected in all.The detection rates of abnormal chromosome karyotype in high risk by serum screening group,advanced maternal age group,fetal NT thickening group and abnormal fetuses by ultrasound screening group were 4.32% (150/3 469),3.08% (16/519),25.0% (18/72) and 11.32% (18/72).The major abnormal karyotypes in the first three groups were aneuploidy with majority of trisomy 21.The latter group,sex chromosome abnormality Turner and trisomy 21 were major.According to exising screening criteria,the positive likelihood ratios LR(+) of the four groups were 1.02,0.53,1.57 and 2.15,respectively,and the negative likelihood ratios LR(-) were 0.84,1.05,0.57 and 0.71,respectively.In the group of abnormal fetuses by ultrasound screening,positive detection of holoprosencephaly,lymphatic hygroma,fetal multiple malformation and fetal NT thickness etc.was more meaningful.LR(+-) were 36.93,11.46,1.77 and 1.62,respectively,while LR(-) were 0.95,0.73,0.72 and 0.57,respectively.Conclusion Ultrasound screening and fetal NT measurement may help make diagnosis for more fetuses in early pregnancy.Fetal lymphatic hygroma,multiple malformation and fetal NT thickness etc.indicate higher rate of fetal chromosomal abnormalities and fetal chromosomal detection should be performed.%目的 探讨不同产前诊断指征在胎儿染色体异常诊断中的价值.方法 对有产前诊断指征的6168例孕妇,在超声引导下经

  11. 2 475 cases of fetal karyotype detection and prenatal diagnosis indications analysis%2475例胎儿染色体核型检测及产前诊断指征分析

    Institute of Scientific and Technical Information of China (English)

    陈桂兰; 唐芳; 屈艳霞; 唐盈; 卢航; 江帆; 黄丽娟; 吴伟雄

    2015-01-01

    目的:通过分析广州市出生缺陷干预工程中产前筛查高危孕妇的染色体核型及产前诊断指征,探讨广州市高危孕妇的胎儿常见异常核型、产前诊断指征以及妊娠结局。方法对2010年1月至2012年9月通过该所转诊的2475例产前筛查高风险的孕妇进行羊膜腔或脐静脉血穿刺,细胞培养及染色体制片,G 显带分析,产后随访。结果检测出染色体异常38例(21-三体12例,性染色体异常9例,平衡易位7例,18-三体 5例,倒位 2例,缺失 2例,三倍体1 例),异常率为1.54%;检测出染色体多态132例[1,9,16qh+60例,Inv(9)30例,D/Gs+25例,Y 多态17例]。进行产前诊断的指征中,唐氏血清学筛查高风险因素668例、高龄因素449例、B 超筛查异常因素158例、不良孕产史因素38例。结论21-三体是本文比例最高的异常核型,唐氏血清学筛查高风险是最主要的产前诊断原因,对高危孕妇行胎儿染色体核型分析检测和系统 B 超排畸筛查均至关重要。%Objective To analyze the chromosome karyotypes,prenatal diagnosis indications and pregnancy outcomes of high-risk pregnant women in Guangzhou.Methods 2 475 cases pregnant women with screening high risk were operated amniocen-tesis or cordocentesis from January 2010 to September 2012,then amniotic fluids and cord bloods were cultured and the cell were collected for chromosome preparation,G banding,karyotype analysis.We completed follow-up works lastly.Results 38 cases were detected chromosomal abnormality(including 12 cases Down′s syndrome,9 cases sex chromosome abnormality,7 cases transloca-tion,5 cases Edwards′syndrome,2 cases inversion,2 cases deletion,1 cases triploid),the abnormal rate was 1.54%.132 cases were detected chromosomal polymorphism(60 cases 1,9,16qh+ ,30 cases inv(9),25 cases D/Gs+ ,17 cases Y polymorphism).Research on prenatal diagnosis indications,there were 449 cases advanced

  12. Low-set ears and pinna abnormalities

    Science.gov (United States)

    Low-set ears; Microtia; "Lop" ear; Pinna abnormalities; Genetic defect-pinna; Congenital defect-pinna ... conditions: Abnormal folds or location of the pinna Low-set ears No opening to the ear canal ...

  13. Saponaria officinalis karyology and karyotype by means of image analyzer and atomic force microscopy.

    Science.gov (United States)

    Di Bucchianico, S; Venora, G; Lucretti, S; Limongi, T; Palladino, L; Poma, A

    2008-10-01

    The aim of this work was to offer a contribution to the characterization of taxonomic entity of Saponaria officinalis (2n = 28; an herbaceous perennial species; saporin, a type 1 Ribosome Inactivating Protein, is present in leaves and seeds) by a cytogenetic and karyomorphological approach. We investigated the karyotype's morphometry correlated with Stebbin's symmetric index; the same information has been used for computing the indices resemblance between chromosomes (REC), symmetric indices (SYI), and total form (TF%) which allow the comparison between species and evaluation of karyological evolution. Fluorescence intensities of the stained nuclei were measured by a flow cytometer and, for the first time, values for nuclear DNA content were estimated by comparing nuclei fluorescence intensities of the test population with those of appropriate internal DNA standards. Our study is also aimed to introduce chromosomal volumes, which were determined by atomic force microscopy (AFM), as novel karyomorphological parameter which could allow for chromosome discrimination especially when tiny ones are present.

  14. Optimasi Penambahan Colcemid pada Karyotyping Kultur Mecenchymal Stem Cells (MSC Mencit

    Directory of Open Access Journals (Sweden)

    Ratih Rinendyaputri

    2016-02-01

    Full Text Available AbstractControl of the genetic stability of stem cells prior to the conduct of therapy is essential to prevent effects such as stem cell transformation. Karyotyping is a conventional technique to conduct an analysis of the number and structure of chromosomes. The analysis can only be performed on metaphase stage that needs to be optimized to get the cell at that stage because the length of the cell cycle are different in the each cell types. This study aims to obtain an optimal time to get MSC at metaphase stage. The study was conducted at the stem cell laboratory of Center for Biomedical and Basic Technology of Health. The event begins with isolation using flushing technique at the femur and tibia of mice. Furthermore, the culture in vitro and induction colcemid 0,25μg/ml for 8,16 and 24 hours to get the MSC at metaphase stage. KCl solution with a concentration of 0.075 M and 0,045 M used as a solvent hipotonis. Results showed that 16 hours of induction colcemid 0,25μg/ml in 0.075 M KCl solution usage percentage of MSC who are at metaphase stage and do the highest analysis (p<0.05. In this study 16 hours induction colcemid 0,25μg/ml is the optimal time to obtain metaphase stage of the MSC from bone marrow of mice.Keywords: mecenchymal stem cell, karyotyping, colcemidAbstrakKontrol terhadap stabilitas genetik pada sel punca sebelum pelaksanan terapi merupakan hal yang penting untuk mencegah efek seperti transformasi sel punca yang dapat terjadi. Secara konvensional dapat dilakukan karyotyping untuk melakukan analisis terhadap jumlah dan struktur kromosom. Analisis hanya dapat dilakukan pada tahap metafase sehingga perlu dilakukan optimasi untuk mendapatkan sel pada tahap tersebut mengingat panjang siklus sel setiap jenis sel berbeda. Penelitian ini bertujuan untuk memperoleh waktu yang optimal untuk mendapatkan MSC pada tahap metafase. Penelitian dilakukan di Laboratorium stem cell Pusat Biomedis dan Teknologi Dasar Kesehatan Badan Litbangkes

  15. A novel approach for efficient extrication of overlapping chromosomes in automated karyotyping.

    Science.gov (United States)

    Munot, Mousami V; Mukherjee, Jayanta; Joshi, Madhuri

    2013-12-01

    Since the introduction of the automated karyotyping systems, segmentation and classification of touching and overlapping chromosomes in the metaphase images are major challenges. The earlier reported techniques for disentangling the chromosome overlaps have limited success and use only color information in case of multispectral imaging. Most of them are restricted to separation of single overlap of two chromosomes. This paper introduces a novel algorithm to extricate overlapping chromosomes in a metaphase image. The proposed technique uses Delaunay triangulation to automatically identify the number of overlaps in a cluster followed by the detection of the appropriate cut-points. The banding information on the overlapped region further resolves the set of overlapping chromosomes with the identified cut-points. The proposed algorithm has been tested with four data sets of 60 overlapping cases, obtained from publically available databases and private genetic labs. The experimental results provide an overall accuracy of 75–100 % for resolving the cluster of 1–6 overlaps.

  16. Banded karyotype of the Konya wild sheep (Ovis orientalis anatolica Valenciennes, 1856) from Turkey.

    Science.gov (United States)

    Arslan, Atilla; Zima, Jan

    2011-01-01

    Thekaryotype, C-banding, and nucleoar organizer regions (NORs) of eight specimens ofKonya wild sheepfrom Turkey were examined. The complement included six large metacentric autosomes, 46 acrocentric autosomes of decreasing size, a medium-sized acrocentric X chromosome, and a small bi-armed Y chromosome (the diploid chromosome number 2n=54, the number of autosomal arms NFa=58, the number of chromosome arms NF=61). G-banding allowed reliable identification of all the chromosome pairs and the pairing of homologous elements. All the autosomes possessed distinct centromeric or pericentromeric C-positive bands. The X chromosome had a pericentromeric C-positive band, and the Y chromosome was entirely C-heterochromatic. The NORs were located in the terminal regions of the long arms of three metacentric and two acrocentric autosomes. The karyotype of the Konya wild sheep and its banding patterns are quite similar to chromosome complement reported in domestic sheep and European mouflon.

  17. The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.

    Science.gov (United States)

    Smigiel, Robert; Pilch, Jacek; Makowska, Izabela; Busza, Halina; Slezak, Ryszard; Sasiadek, Maria M

    2008-09-01

    The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p isochromosome [i(12p)]. We report a rare case of Pallister-Killian syndrome with 12p mosaicism, tetrasomy/trisomy/disomy in fibroblasts and trisomy/disomy in lymphocytes. Marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridisation (FISH). The karyotype was established as: mos47,XX,+12p/47,XX,+i(12p)/46,XX. The cytogenetic result of the extra mosaic 12p presented in lymphocytes suggested the diagnosis of trisomy 12p, although, in combination with clinical manifestations, the Pallister-Killian syndrome was considered and confirmed by the cytogenetic analysis of fibroblasts.

  18. [Phenomenology of abnormal body perceptions].

    Science.gov (United States)

    Schäfer, M L

    1983-01-01

    The present paper deals with the problematic nature of the phenomenological grasping of the consciousness of the body and its pathological modifications. The reasoning is oriented by the doctrine of Husserl of the so-called sentiments as the fundamentals of the experience of the own body. This basic approach does not only seem to be basically for a psychology of the consciousness of the body, but also to give the theoretical-conceptual structure for a great number of psychopathological modifications. Subsequent to a criticism of the conventional use of the term 'hallucination of the body' we attempt to chart elements of a scheme of the abnormal consciousness of the body.

  19. Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes

    Energy Technology Data Exchange (ETDEWEB)

    Torres, L.; Cervantes, A.; Kofman-Alfaro, S. [H.G.M. Ssa. Facultad de Medicina (Mexico)] [and others

    1996-05-17

    True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. Muellerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype in these patients is 46,XX or various forms of mosaicism, whereas 46,XY is very rarely found. The phenotype in all these subjects is similar. We studied 10 true hermaphrodites. Six of them had a 46,XX chromosomal complement: 3 had been reared as males and 3 as females. The other 4 patients were mosaics: 3 were 46,XX/46,XY and one had a 46,XX/47,XXY karyotype. One of the 46,XX/46,XY mosaics was reared as a female, whereas the other 3 mosaics were reared as males. The sex of assignment in the 10 patients depended only on labio-scrotal differentiation. Molecular studies in 46,XX subjects documented the absence of Y centromeric sequences in all cases, arguing against hidden mosaicism. One patient presented Yp sequences (ZFY+, SRY+), which contrast with South African black 46,XX true hermaphrodites in whom no Y sequences were found. Molecular analysis in the subjects with mosaicism demonstrated the presence of Y centromeric and Yp sequences confirming the presence of a Y chromosome. Gonadal development, endocrine function, and phenotype in the 10 patients did not correlate with the presence of a Y chromosome or Y-derived sequences in the genome, confirming that true hermaphroditism is a heterogeneous condition. Both Mexican and non-South African 46,XX true hermaphrodites may be SRY positive. 51 refs., 3 figs., 2 tabs.

  20. Structural and diffusional brain abnormality related to relatively low level alcohol consumption.

    Science.gov (United States)

    Sasaki, Hiroki; Abe, Osamu; Yamasue, Hidenori; Fukuda, Rin; Yamada, Haruyasu; Takei, Kunio; Suga, Motomu; Takao, Hidemasa; Kasai, Kiyoto; Aoki, Shigeki; Ohtomo, Kuni

    2009-06-01

    Chronic excessive alcohol intake results in alcohol-related brain damage. Many previous reports have documented alcohol-related global or local brain shrinkage or diffusional abnormalities among alcoholics and heavy to moderate drinkers; however, the influence of relatively low levels of alcohol consumption on brain structural or diffusional abnormality is unclear. We investigated structural or diffusional abnormalities related to lifetime alcohol consumption (LAC) using voxel-based morphometry (VBM) among Japanese non-alcohol-dependent individuals (114 males, 97 females). High-resolution three-dimensional magnetic resonance images and diffusion tensor imaging were acquired in all subjects. The collected images were normalized, segmented, and smoothed using SPM 5. Gray matter volume (GMV) and white matter volume (WMV) were normalized for each total intracranial volume (TIV), and partial correlation coefficients were estimated between normalized GMV or WMV and lifetime alcohol consumption (LAC) adjusted for age. To investigate regional GMV or WMV abnormalities related to LAC, multiple regression analyses were performed among regional GMV or WMV and LAC, age, and TIV. To investigate subtle regional abnormalities, multiple regression analyses were performed among fractional anisotropy (FA) or mean diffusivity (MD), and LAC and age. No LAC-related global or regional GMV or WMV abnormality or LAC-related regional FA abnormality was found among male or female subjects. Significant LAC-related MD increase was found in the right amygdala among female subjects only. The current results suggest female brain vulnerability to alcohol, and a relation between subtle abnormality in the right amygdala and alcohol misuse.

  1. Intrinsic karyotype stability and gene copy number variations may have laid the foundation for tetraploid wheat formation.

    Science.gov (United States)

    Zhang, Huakun; Bian, Yao; Gou, Xiaowan; Dong, Yuzhu; Rustgi, Sachin; Zhang, Bangjiao; Xu, Chunming; Li, Ning; Qi, Bao; Han, Fangpu; von Wettstein, Diter; Liu, Bao

    2013-11-26

    Polyploidy or whole-genome duplication is recurrent in plant evolution, yet only a small fraction of whole-genome duplications has led to successful speciation. A major challenge in the establishment of nascent polyploids is sustained karyotype instability, which compromises fitness. The three putative diploid progenitors of bread wheat, with AA, SS (S ∼ B), and DD genomes occurred sympatrically, and their cross-fertilization in different combinations may have resulted in fertile allotetraploids with various genomic constitutions. However, only SSAA or closely related genome combinations have led to the speciation of tetraploid wheats like Triticum turgidum and Triticum timopheevii. We analyzed early generations of four newly synthesized allotetraploid wheats with genome compositions S(sh)S(sh)A(m)A(m), S(l)S(l)AA, S(b)S(b)DD, and AADD by combined fluorescence and genomic in situ hybridization-based karyotyping. Results of karyotype analyses showed that although S(sh)S(sh)A(m)A(m) and S(l)S(l)AA are characterized by immediate and persistent karyotype stability, massive aneuploidy and extensive chromosome restructuring are associated with S(b)S(b)DD and AADD in which parental subgenomes showed markedly different propensities for chromosome gain/loss and rearrangements. Although compensating aneuploidy and reciprocal translocation between homeologs prevailed, reproductive fitness was substantially compromised due to chromosome instability. Strikingly, localized genomic changes in repetitive DNA and copy-number variations in gene homologs occurred in both chromosome stable lines, S(sh)S(sh)A(m)A(m) and S(l)S(l)AA. Our data demonstrated that immediate and persistent karyotype stability is intrinsic to newly formed allotetraploid wheat with genome combinations analogous to natural tetraploid wheats. This property, coupled with rapid gene copy-number variations, may have laid the foundation of tetraploid wheat establishment.

  2. Cytogenetic data on Ancistrus sp. (Siluriformes, Loricariidae) of the Paraguay River basin (MS) sheds light on intrageneric karyotype diversification

    Science.gov (United States)

    Prizon, Ana Camila; Borin-Carvalho, Luciana Andreia; Bruschi, Daniel Pacheco; Ribeiro, Marcos Otávio; Barbosa, Ligia Magrinelli; Ferreira, Greicy Ellen de Brito; Cius, Andréa; Zawadzki, Claudio Henrique; Portela-Castro, Ana Luiza de Brito

    2016-01-01

    Abstract Ancistrus Kner, 1854 is a diverse catfish genus, currently comprising 66 valid species, but karyotype data were recorded for 33 species, although only ten have their taxonomic status defined. Considerable karyotype diversity has been found within this genus, with 2n varying from 34 to 54 and structural variability including heteromorphic sex chromosomes. In many cases, uncertainty on the taxonomic status of the study populations hampers reliable interpretation of the complex chromosomal evolutionary history of the group. This study aims to present the first karyotype data for a population of the Ancistrus sp. collected in Criminoso stream (tributary of the Paraguay River Basin, Mato Grosso do Sul, Brazil) in which a combination of different chromosomal markers was used and results integrated in broad discussion on karyotype evolution in the genus. The specimens presented 2n=42 with 18m+16sm+8st and a single NOR revealed by silver nitrate and fluorescence in situ hybridization (FISH) with 18S rDNA probe, located in pair No. 10. Clusters of 5S rDNA were located in the pericentromeric region of three chromosomes: pair No. 1 (metacentric) and one of the homologues of the nucleolar pair No. 10. Heterogeneity in the molecular composition of the heterochromatin was confirmed by the association of C-banding and fluorochrome CMA3/DAPI-staining. Exploring the differential composition of constitutive heterochromatin in Ancistrus may provide an important perspective to understand genome organization and evolution within this group. Our data reinforce the chromosomal diversity present in Ancistrus genus and we discuss the potential sources these variation. The karyotype structure of Ancistrus sp. “Criminoso stream” appears to be consistent with the existence of a new candidate species. PMID:28123683

  3. On Regularity of Abnormal Subriemannian Geodesics

    CERN Document Server

    Tan, Kanghai

    2012-01-01

    We prove the smoothness of abnormal minimizers of subriemannian manifolds of step 3 with a nilpotent basis. We prove that rank 2 Carnot groups of step 4 admit no strictly abnormal minimizers. For any subriemannian manifolds of step less than 7, we show all abnormal minimizers have no corner type singularities, which partly generalize the main result of Leonardi-Monti.

  4. Approach to Investigating Congenital Skeletal Abnormalities in Livestock.

    Science.gov (United States)

    Dittmer, K E; Thompson, K G

    2015-09-01

    Congenital skeletal abnormalities may be genetic, teratogenic, or nutritional in origin; distinguishing among these different causes is essential in the management of the disease but may be challenging. In some cases, teratogenic or nutritional causes of skeletal abnormalities may appear very similar to genetic causes. For example, chondrodysplasia associated with intrauterine zinc or manganese deficiency and mild forms of hereditary chondrodysplasia have very similar clinical features and histologic lesions. Therefore, historical data are essential in any attempt to distinguish genetic and acquired causes of skeletal lesions; as many animals as possible should be examined; and samples should be collected for future analysis, such as genetic testing. Acquired causes of defects often show substantial variation in presentation and may improve with time, while genetic causes frequently have a consistent presentation. If a disease is determined to be of genetic origin, a number of approaches may be used to detect mutations, each with advantages and disadvantages. These approaches include sequencing candidate genes, single-nucleotide polymorphism array with genomewide association studies, and exome or whole genome sequencing. Despite advances in technology and increased cost-effectiveness of these techniques, a good clinical history and description of the pathology and a reliable diagnosis are still key components of any investigation.

  5. Nonrandom chromosomal abnormalities in acute nonlymphocytic leukemia in patients treated for Hodgkin disease and non-Hodgkin lymphomas

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.; Golomb, H.M.; Vardiman, J.

    1977-11-01

    Chromosomal analyses of myeloid cells were performed on ten patients who had acute nonlymphocytic leukemia (ANLL) following treatment for malignant lymphoma. Seven patients had Hodgkin disease and three had non-Hodgkin lymphoma, poorly differentiated lymphocytic type. Six patients were treated with radiotherapy and chemotherapy; two had radiotherapy only, and two chemotherapy only. The median time between diagnosis of lymphoma and subsequent leukemia was 58 mo. Four patients had the blast phase of a myeloproliferative syndrome, four had acute myelogenous leukemia, one had acute promyelocytic leukemia, and the tenth, erythroleukemia. None of four patients whose leukemia was treated with intensive chemotherapy responded. Every patient had an abnormal karyotype. Seven of the patients showed hypodiploid cell lines, two a pseudodiploid, and one a hyperdiploid cell line. Cells from every patient except one were lacking a B chromosome; in eight, this could be identified as a No. 5. Five of nine patients were lacking a No. 7. Loss or rearrangement of No. 17 was found in four and of Nos. 6 or 8 in three patients. Many of the karyotypes were bizarre, with marker chromosomes and minute chromosomes. The karyotypic pattern seen in these patients showed no correlation with the nature of the original lymphoma, the type of leukemia, or the therapy used. The chromosomal pattern of hypodiploid cell lines found in ANLL that arose de novo was similar to that occurring in treated lymphoma. However, in ANLL de novo, less than half of the patients had fewer than 46 chromosomes, and less than 10% had fewer than 45 chromosomes. In this study, 70% of the patients had fewer than 46 and 40% had fewer than 45 chromosomes. The critical question thus concerns the factors, as yet unknown, that predispose to the development of hypodiploid modal numbers in ANLL in lymphoma.

  6. Chromosomal phenotypes and submicroscopic abnormalities

    Directory of Open Access Journals (Sweden)

    Devriendt Koen

    2004-01-01

    Full Text Available Abstract The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/duplicated region, abnormal dosage of genes located within these regions can explain the phenotypic similarities among individuals with a specific syndrome. As such, they provide a unique resource towards the genetic dissection of complex phenotypes such as congenital heart defects, mental and growth retardation and abnormal behaviour. In addition, the study of phenotypic differences in individuals with the same microdeletion syndrome may also become a treasury for the identification of modifying factors for complex phenotypes. The molecular analysis of these chromosomal anomalies has led to a growing understanding of their mechanisms of origin. Novel tools to uncover additional submicroscopic chromosomal anomalies at a higher resolution and higher speed, as well as the novel tools at hand for deciphering the modifying factors and epistatic interactors, are 'on the doorstep' and will, besides their obvious diagnostic role, play a pivotal role in the genetic dissection of complex phenotypes.

  7. Abnormal visuomotor processing in schizophrenia

    Directory of Open Access Journals (Sweden)

    Siân E. Robson

    2016-01-01

    Full Text Available Subtle disturbances of visual and motor function are known features of schizophrenia and can greatly impact quality of life; however, few studies investigate these abnormalities using simple visuomotor stimuli. In healthy people, electrophysiological data show that beta band oscillations in sensorimotor cortex decrease during movement execution (event-related beta desynchronisation (ERBD, then increase above baseline for a short time after the movement (post-movement beta rebound (PMBR; whilst in visual cortex, gamma oscillations are increased throughout stimulus presentation. In this study, we used a self-paced visuomotor paradigm and magnetoencephalography (MEG to contrast these responses in patients with schizophrenia and control volunteers. We found significant reductions in the peak-to-peak change in amplitude from ERBD to PMBR in schizophrenia compared with controls. This effect was strongest in patients who made fewer movements, whereas beta was not modulated by movement in controls. There was no significant difference in the amplitude of visual gamma between patients and controls. These data demonstrate that clear abnormalities in basic sensorimotor processing in schizophrenia can be observed using a very simple MEG paradigm.

  8. Nodes of ranvier and paranodes in chronic acquired neuropathies.

    Directory of Open Access Journals (Sweden)

    Carmen Cifuentes-Diaz

    Full Text Available Chronic acquired neuropathies of unknown origin are classified as chronic inflammatory demyelinating polyneuropathies (CIDP and chronic idiopathic axonal polyneuropathies (CIAP. The diagnosis can be very difficult, although it has important therapeutic implications since CIDP can be improved by immunomodulating treatment. The aim of this study was to examine the possible abnormalities of nodal and paranodal regions in these two types of neuropathies. Longitudinal sections of superficial peroneal nerves were obtained from biopsy material from 12 patients with CIDP and 10 patients with CIAP and studied by immunofluorescence and in some cases electron microscopy. Electron microscopy revealed multiple alterations in the nodal and paranodal regions which predominated in Schwann cells in CIDP and in axons in CIAP. In CIDP paranodin/Caspr immunofluorescence was more widespread than in control nerves, extending along the axon in internodes where it appeared intense. Nodal channels Nav and KCNQ2 were less altered but were also detected in the internodes. In CIAP paranodes, paranodin labeling was irregular and/or decreased. To test the consequences of acquired primary Schwann cells alteration on axonal proteins, we used a mouse model based on induced deletion of the transcription factor Krox-20 gene. In the demyelinated sciatic nerves of these mice we observed alterations similar to those found in CIDP by immunofluorescence, and immunoblotting demonstrated increased levels of paranodin. Finally we examined whether the alterations in paranodin immunoreactivity could have a diagnosis value. In a sample of 16 biopsies, the study of paranodin immunofluorescence by blind evaluators led to correct diagnosis in 70 ± 4% of the cases. This study characterizes for the first time the abnormalities of nodes of Ranvier in CIAP and CIDP, and the altered expression and distribution of nodal and paranodal proteins. Marked differences were observed between CIDP and CIAP

  9. Cytogenetic follow-up by karyotyping and fluorescence in situ hybridization: implications for monitoring patients with myelodysplastic syndrome and deletion 5q treated with lenalidomide

    Science.gov (United States)

    Göhring, Gudrun; Giagounidis, Aristoteles; Büsche, Guntram; Hofmann, Winfried; Kreipe, Hans Heinrich; Fenaux, Pierre; Hellström-Lindberg, Eva; Schlegelberger, Brigitte

    2011-01-01

    In patients with low and intermediate risk myelodysplastic syndrome and deletion 5q (del(5q)) treated with lenalidomide, monitoring of cytogenetic response is mandatory, since patients without cytogenetic response have a significantly increased risk of progression. Therefore, we have reviewed cytogenetic data of 302 patients. Patients were analyzed by karyotyping and fluorescence in situ hybridization. In 85 patients, del(5q) was only detected by karyotyping. In 8 patients undergoing karyotypic evolution, the del(5q) and additional chromosomal aberrations were only detected by karyotyping. In 3 patients, del(5q) was only detected by fluorescence in situ hybridization, but not by karyotyping due to a low number of metaphases. Karyotyping was significantly more sensitive than fluorescence in situ hybridization in detecting the del(5q) clone. In conclusion, to optimize therapy control of myelodysplastic syndrome patients with del(5q) treated with lenalidomide and to identify cytogenetic non-response or progression as early as possible, fluorescence in situ hybridization alone is inadequate for evaluation. Karyotyping must be performed to optimally evaluate response. (clinicaltrials.gov identifier: NCT01099267 and NCT00179621) PMID:21109690

  10. A retrospective analysis between indications for the invasive prenatal diagnostics and chromosomal karyotypes for 2371 cases%2371例孕妇产前诊断的指证及其结果分析

    Institute of Scientific and Technical Information of China (English)

    司红卫

    2012-01-01

    目的 分析产前诊断指证与胎儿染色体检测结果的关系.方法 2371例有产前诊断指证的孕妇,进行羊膜腔穿刺或脐静脉穿刺术,取羊水细胞或脐血细胞培养,作胎儿染色体核型分析.结果 2371例孕妇共检出胎儿染色体异常60例,染色体异常率为2.53%,显著高于一般人群的异常率(P<0.01).其中孕母血清唐氏筛查阳性组和高龄孕妇组的异常率分别为1.63% (13/794)、2.32% (15/646),产前胎儿超声异常标记组胎儿染色体异常率16.12% (15/93),夫妇一方为染色体平衡易位携带者组的胎儿染色体异常率达71.4% (5/7),21-三体儿检出25例,占异常率的41.67%(25/60),其中一例连续两次诊断出21-三体儿.结论 出现胎儿染色体异常率最高的指证,依次为平衡易位携带、产前超声发现胎儿异常标记、高龄孕妇、孕母血清唐氏筛查阳性.掌握好产前诊断指证,可更有价值地控制和减少出生缺陷的发生.%Objective: To analyze indications for the invasive prenatal diagnostics and chromosomal karyotypes. Methods: A total of 2371 cases for prenatal diagnosis in our hospital was enrolled into this study. These women were in the second and thirdtrimester of pregnancy. Fetalblood and amniotiefluid from these women were obtained. And chromosomal karyotypes were determined. Results: Among 2371 cases, 60 cases of fetus' chromosomal abnormalities were detected, and the abnormal incidence was 2.53%. In groups of parental balanced chromosome rearrangements , abnormal ultrasonography markers, maternal serum Downs syndrome screening positive, and advanced maternal age, the abnormal incidences were 71. 4% (5/7), 16.12% (15/93), 1.63% (13/794), 2.32% (15/646), respectively. Except 1 case have twice trisomy 21, no fetus's chromosomal abnormality was observed in groups of triso-myl8, 21 pregnant history and possible teratogenic exposure. Conclusion; In the pregnant women with prenatal diagnosis, the highest

  11. Rare cytogenetic abnormalities and alteration of microRNAs in acute myeloid leukemia and response to therapy

    Directory of Open Access Journals (Sweden)

    Mohammad Shahjahani

    2015-03-01

    Full Text Available Acute myeloid leukemia (AML is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO classification, acute myeloid leukemias can be divided to four groups. Due to the heterogeneous nature of AML and since most therapeutic protocols in AML are based on genetic alterations, gathering further information in the field of rare disorders as well as common cytogenetic abnormalities would be helpful in determining the prognosis and treatment in this group of diseases. Recently, the role of microRNAs (miRNAs in both normal hematopoiesis and myeloid leukemic cell differentiation in myeloid lineage has been specified. miRNAs can be used instead of genes for AML diagnosis and classification in the future, and can also play a decisive role in the evaluation of relapse as well as response to treatment in the patients. Therefore, their use in clinical trials can affect treatment protocols and play a role in therapeutic strategies for these patients. In this review, we have examined rare cytogenetic abnormalities in different groups of acute myeloid leukemias according to WHO classification, and the role of miRNA expression in classification, diagnosis and response to treatment of these disorders has also been dealt with.

  12. And the Winner is – Acquired

    DEFF Research Database (Denmark)

    Henkel, Joachim; Rønde, Thomas; Wagner, Marcus

    value in case of success—that is, a more radical innovation. In the second stage, successful entrants bid to be acquired by the incumbent. We assume that entrants cannot survive on their own, so being acquired amounts to a ‘prize’ in a contest. We identify an equilibrium in which the incumbent chooses...

  13. Radionuclide brain imaging in acquired immunodeficiency syndrome (AIDS)

    Energy Technology Data Exchange (ETDEWEB)

    Costa, D.C.; Gacinovic, S.; Miller, R.F. [London University College Medical School, Middlesex Hospital, London (United Kingdom)

    1995-09-01

    Infection with the Human Immunodeficiency Virus type 1 (HIV-1) may produce a variety of central nervous system (CNS) symptoms and signs. CNS involvement in patients with the Acquired Immunodeficiency Syndrome (AIDS) includes AIDS dementia complex or HIV-1 associated cognitive/motor complex (widely known as HIV encephalopathy), progressive multifocal leucoencephalopathy (PML), opportunistic infections such as Toxoplasma gondii, TB, Cryptococcus and infiltration by non-Hodgkin`s B cell lymphoma. High resolution structural imaging investigations, either X-ray Computed Tomography (CT scan) or Magnetic Resonance Imaging (MRI) have contributed to the understanding and definition of cerebral damage caused by HIV encephalopathy. Atrophy and mainly high signal scattered white matter abnormalities are commonly seen with MRI. PML produces focal white matter high signal abnormalities due to multiple foci of demyelination. However, using structural imaging techniques there are no reliable parameters to distinguish focal lesions due to opportunistic infection (Toxoplasma gondii abscess) from neoplasm (lymphoma infiltration). It is studied the use of radionuclide brain imaging techniques in the investigation of HIV infected patients. Brain perfusion Single Photon Emission Tomography (SPET), neuroreceptor and Positron Emission Tomography (PET) studies are reviewed. Greater emphasis is put on the potential of some radiopharmaceuticals, considered to be brain tumour markers, to distinguish intracerebral lymphoma infiltration from Toxoplasma infection. SPET with {sup 201}Tl using quantification (tumour to non-tumour radioactivity ratios) appears a very promising technique to identify intracerebral lymphoma.

  14. Hair shaft abnormalities--clues to diagnosis and treatment.

    Science.gov (United States)

    Itin, Peter H; Fistarol, Susanna K

    2005-01-01

    Hair dysplasias are congenital or acquired alterations which often involve the hair shaft. Hair shaft abnormalities are characterized by changes in color, density, length and structure. Hair shaft alterations often result from structural changes within the hair fibers and cuticles which may lead to brittle and uncombable hair. The hair of patients with hair shaft diseases feels dry and looks lusterless. Hair shaft diseases may occur as localized or generalized disorders. Genetic predisposition or exogenous factors produce and maintain hair shaft abnormalities. Hair shaft diseases are separated into those with and those without increased hair fragility. In general, optic microscopy and polarized light microscopy of hair shafts provide important clues to the diagnosis of isolated hair shaft abnormalities or complex syndromes. To establish an exact diagnosis of dysplastic hair shafts, a structured history and physical examination of the whole patient are needed which emphasizes other skin appendages such as the nails, sweat and sebaceous glands. Profound knowledge on hair biology and embryology is necessary to understand the different symptom complexes. Therapy of hair shaft disorders should focus on the cause. In addition, minimizing traumatic influences to hair shafts, such as drying hair with an electric dryer or permanent waves and dyes, is important. A short hairstyle is more suitable for patients with hair shaft disorders.

  15. Abnormal Returns and Contrarian Strategies

    Directory of Open Access Journals (Sweden)

    Ivana Dall'Agnol

    2003-12-01

    Full Text Available We test the hypothesis that strategies which are long on portfolios of looser stocks and short on portfolios of winner stocks generate abnormal returns in Brazil. This type of evidence for the US stock market was interpreted by The Bondt and Thaler (1985 as reflecting systematic evaluation mistakes caused by investors overreaction to news related to the firm performance. We found evidence of contrarian strategies profitability for horizons from 3 months to 3 years in a sample of stock returns from BOVESPA and SOMA from 1986 to 2000. The strategies are more profitable for shorter horizons. Therefore, there was no trace of the momentum effect found by Jagadeesh and Titman (1993 for the same horizons with US data. There are remaing unexplained positive returns for contrarian strategies after accounting for risk, size, and liquidity. We also found that the strategy profitability is reduced after the Real Plan, which suggests that the Brazilian stock market became more efficient after inflation stabilization.

  16. 秦皇岛地区865对不良孕产史夫妇外周血染色体核型分析%Chromosome karyotypes analysis on 865 couples with negative reproductive history

    Institute of Scientific and Technical Information of China (English)

    蒋向荣; 隋丽萍; 葛辛; 吴敏; 刘敬华; 孟蕾

    2013-01-01

    Objective:To analyze the relationship between abnomal chromosome karyotype and negative reproductive history such as early embryo development arrest,Spontaneous abortion,stillbirth,congenital monstrosity infants.Method:1730 cases of patients were detected by lymphocyte chromosome G-banding method in peripheral blood,Results:187 cases of abnomal karyotypes were detected in 1730 cases,the detection rate was 10.8% ; Chromosome analysis of 7 couples of results for chromosomal abnormalities,and for the rest of unilateral abnormalities,including 129 cases of chromosome polymorph-hism,27cases of balanced translocation,10cases of Robertso-nian translocation,16 cases of deletion.7cases of pericentric inversion,1 case of duplication,1 case of dicentrics,1 case of derivative chromosome,1 case of dicentrics,1 case of isochromosome,2 cases of numerical abnormalities of chromosomes.Conclusions:the chromosomal abnormalities play an important role in the occurance of negative reproductive history,the examination of chromosome karyotypes should be used as the the important items,to clear the reason,to guide the fertility,and to reduce the prevalence of birth defects.%目的 通过对胚胎停育流产、自然流产、死胎、生育畸形儿等不良孕产史夫妇进行染色体核型分析,探讨不良孕产史与染色体异常的关系.方法 抽取865对不良孕产史夫妇外周血进行细胞培养,制备染色体进行G显带,进行染色体核型分析.结果 865对夫妇(1730例)检出核型异常187例,其中7对为夫妻双方均有异常,其余为单方异常.异常检出率为10.8%.其中染色体多态变异129例;易位27例,罗伯逊易位10例;缺失16例;倒位7例;其他异常8例:重复1例;双着丝粒1例;衍生2例;断裂1例;等臂染色体1例;染色体数目异常2例..结论 染色体异常是不良孕产史的重要原因,染色体核型的检查应该作为不良孕产史夫妇的重要检查项目,以明确原因并指导生育,降低先天缺陷儿的出生.

  17. Progressive multifocal leukoence-phalopathy presenting as homonymous hemianopia in a patient with acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    Amit Pandey

    2012-01-01

    Full Text Available We present a case of a Human Immunodeficiency Virus (HIV positive patient who was referred for retinal evaluation to rule out ophthalmic manifestations of Acquired Immunodeficiency Syndrome (AIDS. She complained of some disturbance in vision in both eyes. Fundus examination showed no abnormality. Perimetry, done to rule out optic nerve pathology, showed a left homonymous hemianopia. Magnetic Resonance Imaging (MRI scan showed features of Progressive Multifocal Leukoencephalopathy (PML. She had no other neurological symptoms or signs.

  18. 人体肝癌细胞系SMMC-7721非显带技术下的核型分析%Karyotype analysis of human hepatoma cell line SMMC-7721 using non-banding techniques

    Institute of Scientific and Technical Information of China (English)

    范宁; 高磊; 汪艳; 米亚静; 景晓红

    2015-01-01

    Objective To analyze karyotype of human hepatoma cell lines SMMC-7721 using non-banding technique. Methods SMMC-7721 cells were cultured in vitro, followed by cell synchronization with colchicine, hy-potonic treatment and Giemsa staining, and then non-banding karyotype was analyzed. Results The majority number of karyotypes of SMMC-7721 cell lines was 60 to 70. Peaks occurred mainly in the E group, and the majority of E, F, G groups were more than half of the total number of chromosomes or even more than 60%(25/128). For the structure of chromosomes, dicentric chromosome, chromosome sharing three centromeres and ring chromosome could be found in a few cells. Conclusion The analysis of the abnormal chromosome will help us to deeply understand transforma-tion and deterioration of liver cells, which provides the genetic basis for preliminary clinical diagnosis and treatment.%目的 应用非显带技术,分析人体肝癌细胞系SMMC-7721的染色体核型.方法 体外培养SMMC-7721细胞,通过秋水仙素使细胞同步化,低渗、滴片、吉姆萨染色,进行非显带染色体核型分析.结果 数目方面,SMMC-7721细胞系核型的众数为60~70条,峰值主要出现在E组,通过分析染色体数目在50~70个之间的较清晰的25个核型发现,E、F、G组染色体总数大多过半甚至超过60%;结构方面,分辨出双着丝粒染色体、含有3个着丝粒的染色体和环状染色体.结论 上述染色体的数目异常与结构畸变,对认识肝细胞的转化、恶变以及临床的初步诊治提供了细胞遗传学基础.

  19. 光谱核型分析技术在急性髓系白血病细胞遗传学分析中的应用%Application of spectral karyotyping to cytogenetic analysis in acute myeloid leukemia

    Institute of Scientific and Technical Information of China (English)

    郭搏; 朱宏丽; 李素霞; 韩晓萍; 孙敬芬; 王莉莉; 黄文荣; 达万明

    2011-01-01

    目的 初步探讨光谱核型分析(Spectral karyotyping,SKY)技术在急性髓系白血病(AML)细胞遗传学分析中的应用价值.方法 对9例AML患者分别采用R显带、SKY检查染色体核型,采用双融合荧光原位杂交(D-FISH)检测MLL、PML-RARα、AML1-ETO等融合基因.将R显带、DFISH、SKY结果进行比较,考察SKY技术在AML细胞遗传学研究中应用的稳定性和可靠性.结果 9例患者标本SKY均获成功.通过SKY技术分别发现9q-,t(15;17)及ins(10;17)(q22;p11p12)3种结构异常及一些数量异常.这些结果均证实和补充了R显带及D-FISH的结论,并定位更精确.结论 SKY技术具有较高的稳定性、可靠性和精确性,可应用于AML的细胞遗传学研究.%Objective To evaluate the value of spectral karyotyping( SKY) in cytogentic analysis of acute myeloid leukemias ( AML).Methods Nine AML patients were analyzed by R-banding and SKY.MLL, PML-RARα, AML1-ETO fusion genes were detected by dual fusion- fluorescence in situ hybridization (D-FISH).Results All 9 samples were successfully hybridized.SKY identified structural aberrations including 9q - , t( 15; 17) and ins( 10; 17) (q22;p11 p12); and some numeral abnormalities.The results of SKY confirmed those of R-band karyotyping and D-FISH; with more accurate localization.Conclusion SKY appears to be fairly stable, accurate and sensitive, for AML cytogenetic study.

  20. Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation

    Directory of Open Access Journals (Sweden)

    Kiefer Y

    2012-03-01

    Full Text Available Yvonne Kiefer1, Christoph Schulte2, Markus Tiemann2, Joern Bullerdiek11Center for Human Genetics, University of Bremen, Bremen, Germany; 2Hematopathology Hamburg, Hamburg, GermanyAbstract: Chronic lymphocytic leukemia is the most common leukemia in adults. By cytogenetic investigations major subgroups of the disease can be identified that reflect different routes of tumor development. Of these chromosomal deviations, trisomy 12 and deletions of parts of either the long arm of chromosome 13, the long arm of chromosome 11, or the short arm of chromosome 17 are most commonly detected. In some of these aberrations the molecular target has been identified as eg, ataxia telangiectasia mutated (ATM in case of deletions of chromosomal region 11q22~23 and the genes encoding microRNAs miR-15a/16-1 as likely targets of deletions of chromosomal band 13q14.3. Of note, these aberrations do not characterize independent subgroups but often coexist within the metaphases of one tumor. Generally, complex aberrations are associated with a worse prognosis than simple karyotypic alterations. Due to smaller sizes of the missing segment the detection of recurrent deletions is not always possible by means of classical cytogenetics but requires more advanced techniques as in particular fluorescence in situ hybridization (FISH. Nevertheless, at this time it is not recommended to replace classical cytogenetics by FISH because this would miss additional information given by complex or secondary karyotypic alterations. However, the results of cytogenetic analyses allow the stratification of prognostic and predictive groups of the disease. Of these, the group characterized by deletions involving TP53 is clinically most relevant. In the future refined methods as eg, array-based comparative genomic hybridization will supplement the existing techniques to characterize CLL. Keywords: chronic lymphocytic leukemia, chromosomal abnormality, miRNA deregulation

  1. 3156例生殖异常患者的染色体核型异常分析%Analysis of chromosome abnormities in 3 156 patients with reproduction abnormalities

    Institute of Scientific and Technical Information of China (English)

    陈春; 李运星; 秦胜芳; 魏萍; 曾兰; 邓艺; 伍志灵; 叶梦玲

    2015-01-01

    目的:探讨生殖异常与染色体异常的关系。方法回顾性分析2008年8月至2014年8月四川省妇幼保健院就诊的3156例生殖异常患者的染色体核型及临床资料。结果 3156例生殖异常患者中,检出染色体异常核型82例,核型异常率为2.6%。其中非同源染色体平衡易位30例(36.59%)、性染色体数目异常28例(34.15%)、罗伯逊易位12例(14.63%)、其他染色体异常12例(14.63%)。从临床表现看,妊娠胎儿丢失患者、不孕不育患者、胎儿畸形及出生缺陷患者染色体异常率分别为3.26%(53/1625)、2.02%(25/1235)、1.35%(4/296)。结论生殖异常与染色体异常有关,对生殖异常患者进行染色体检查是必要的。%Objective To discuss the relationship between reproduction abnormality and chromosome abnormity .Methods Chromosome karyotypes and clinical data of 3 156 patients with reproduction abnormalities in Sichuan Provincial Maternity and Child Health Hospital from Aug 2008 to Aug 2014 were retrospectively analyzed .Results Among the 3 156 patients with reproduction abnormalities ,82 cases of abnormal karyotypes were detected , The incidence rate of chromosomal abnormity was 2.6%, 30 cases (36.59%) were the balance of autosomal translocation , 28 cases (34.15%) were sex chromosome aneuploidy , 12 cases (14.63%) were robertsonian translocation , 12 cases ( 14.63%) were other chromosome abnormities .As to the clinical manifestations , the chromosomal abnormity rate of miscarriage , infertility, fetal malformation and birth defect were 3.26% (53/1 625), 2.02% (25/1 235), 1.35% (4/296) respectively.Conclusion Reproductive abnormalities are associated with chromosome abnormities .It is necessary for patients with reproductive abnormalities to take chromosome examination .

  2. 7 CFR 926.10 - Acquire.

    Science.gov (United States)

    2010-01-01

    ... of the Department of Agriculture (Continued) AGRICULTURAL MARKETING SERVICE (Marketing Agreements and Orders; Fruits, Vegetables, Nuts), DEPARTMENT OF AGRICULTURE DATA COLLECTION, REPORTING AND RECORDKEEPING REQUIREMENTS APPLICABLE TO CRANBERRIES NOT SUBJECT TO THE CRANBERRY MARKETING ORDER § 926.10 Acquire....

  3. Hospital-Acquired Condition Reduction Program

    Data.gov (United States)

    U.S. Department of Health & Human Services — In October 2014, CMS began reducing Medicare payments for subsection (d) hospitals that rank in the worst performing quartile with respect to hospital-acquired...

  4. Enhancing Medicares Hospital Acquired Conditions Policy

    Data.gov (United States)

    U.S. Department of Health & Human Services — The current Medicare policy of non-payment to hospitals for Hospital Acquired Conditions (HAC) seeks to avoid payment for preventable complications identified within...

  5. Intraspecific karyotypic differentiation in the Australian phasmatid Didymuria violescens (Leach). I. The chromosome races and their structural and evolutionary relationships.

    Science.gov (United States)

    Craddock, E M

    1975-11-20

    The phasmatid species Didymuria violescens comprises ten distinct chromosome races parapatrically distributed such that adjacent races meet in narrow zones of overlap. The interracial karyotypic variation is remarkable and involves both diploid number differences (in the range 26-40) and differences in the sex-chromosome mechanism. Karyotypic comparisons and analyses of the meiotic pairing relationships in interracial hybirds have shown that the differences derive in large part from a series of centric fusion events and X-autosome fusions, which together contribute to the reduction in chromosome number within the species. The origin and development of the current racial pattern can best be interpreted in terms of the stasipatric hypothesis of White.

  6. 半滑舌鳎染色体核型分析%The karyotype of the tonguefish Cynoglossus semilaevis

    Institute of Scientific and Technical Information of China (English)

    周丽青; 杨爱国; 柳学周; 杜伟; 庄志猛

    2005-01-01

    The tonguefish Cynoglossus semilaevis (Giinther) is a rare fish species in Chinese offing, inhabiting in the warm water bottom. The metaphase chromosome preparation of the fries has been got from their fins by hot air drying methods, while the metaphase chromosomes of one year old young fish which has physiologically sex differentiation has teen got from their renal tissues by the method of PHA and colchicine injection. The karyotypes were examined. The result shows that there are 42 acrocentric chromosomes in diploid and their karyotype formula is 2n = 42t, and there existed heterotypic sex chromosome which belongs to ZW/ZZ type. The sex ratio in artificial bred stock is nearly 1 : 1.

  7. Acquiring Evolving Technologies: Web Services Standards

    Science.gov (United States)

    2016-06-30

    2006 Carnegie Mellon University Acquiring Evolving Technologies: Web Services Standards Harry L. Levinson Software Engineering Institute Carnegie...Acquiring Evolving Technologies: Web Services Standards 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT...NUMBER OF PAGES 22 19a. NAME OF RESPONSIBLE PERSON a. REPORT unclassified b. ABSTRACT unclassified c. THIS PAGE unclassified Standard Form

  8. Acquired uniparental disomy in myeloproliferative neoplasms.

    Science.gov (United States)

    Score, Joannah; Cross, Nicholas C P

    2012-10-01

    The finding of somatically acquired uniparental disomy, where both copies of a chromosome pair or parts of chromosomes have originated from one parent, has led to the discovery of several novel mutated genes in myeloproliferative neoplasms and related disorders. This article examines how the development of single nucleotide polymorphism array technology has facilitated the identification of regions of acquired uniparental disomy and has led to a much greater understanding of the molecular pathology of these heterogeneous diseases.

  9. Acquiring Secure Systems Through Information Economics

    Science.gov (United States)

    2015-05-01

    Acquiring Secure Systems Through Information Economics Chad Dacus Research Professor of Defense Economics Air Force Research Institute Dr. Pano...to 00-00-2015 4. TITLE AND SUBTITLE Acquiring Secure Systems Through Information Economics 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM...If adversary can hack into mission essential software/hardware, then mission is compromised • Mission assurance requires materiel solutions, educated

  10. Acquired pure red cell aplasia in children

    Directory of Open Access Journals (Sweden)

    Sujata R Dafale

    2012-01-01

    Full Text Available Acquired Pure Red Cell Aplasia (PRCA is a rare occurrence in children.This is a case of an eight year old girl child who developed acquired PRCA secondary to long term intake of sodium Valproate. This case is reported to review the causes of PRCA in children and to reconsider the use of drugs of longer duration in children and adults.

  11. ABNORMAL CARDIOVASCULAR REFLEXES IN PATIENTS WITH ACHALASIA

    Institute of Scientific and Technical Information of China (English)

    戈峰; 李泽坚; 柯美云

    1994-01-01

    Using 3 non-invasive tests,abnormalities of cardiovascular reflex function were found in 7 of 15 patients with achalasia.Abnormalities of heart rate responses to the Valsalva maneuver,deep breathing ,and standing were moted in patients with autonomic neuropathy defect.The findings are consistent with the hypothesis that an abnormality of vagal function may contribute to the pathogenesis of achalasia.

  12. Comparison of the karyotypes ofPsathyrostachys juncea andP. huashanica (Poaceae) studied by banding techniques

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib; Bothmer, R. von

    1986-01-01

    . The patterns of both taxa are polymorphic, supporting that both taxa are outbreeders. The karyotypic characters suggest that P. juncea is more closely related to P. fragilis than either is to P. huashanica. N-banding stains weakly. Silver nitrate staining demonstrates that nucleolus organizers of both species...... have different nucleolus forming capacities. The presence of micronucleoli suggests that both species have an extra unidentified chromosome with nucleolus forming capacity....

  13. Karyotypes of two cytotypes of Paspalum quadrifarium Lam. (Poaceae): an alternative technique for small chromosomes in plants

    OpenAIRE

    Pablo Speranza; Magdalena Vaio; Cristina Mazzella

    2003-01-01

    Paspalum quadrifarium Lam. is a bunchgrass native to Uruguay, Argentina, and southern Brazil. Diploid, triploid, tetraploid and hexaploid cytotypes have been reported for this species of the Quadrifaria group of Paspalum. In this group, a high degree of cytogenetic homology between the genomes of several diploid species has been reported, based on meiotic pairing in interspecific hybrids; multivalent associations would thus be expected in polyploid hybrids. Karyotype analysis could provide us...

  14. Normal karyotype is a poor prognostic factor in myeloid leukemia of Down syndrome: a retrospective, international study.

    Science.gov (United States)

    Blink, Marjolein; Zimmermann, Martin; von Neuhoff, Christine; Reinhardt, Dirk; de Haas, Valerie; Hasle, Henrik; O'Brien, Maureen M; Stark, Batia; Tandonnet, Julie; Pession, Andrea; Tousovska, Katerina; Cheuk, Daniel K L; Kudo, Kazuko; Taga, Takashi; Rubnitz, Jeffrey E; Haltrich, Iren; Balwierz, Walentyna; Pieters, Rob; Forestier, Erik; Johansson, Bertil; van den Heuvel-Eibrink, Marry M; Zwaan, C Michel

    2014-02-01

    Myeloid leukemia of Down syndrome has a better prognosis than sporadic pediatric acute myeloid leukemia. Most cases of myeloid leukemia of Down syndrome are characterized by additional cytogenetic changes besides the constitutional trisomy 21, but their potential prognostic impact is not known. We, therefore, conducted an international retrospective study of clinical characteristics, cytogenetics, treatment, and outcome of 451 children with myeloid leukemia of Down syndrome. All karyotypes were centrally reviewed before assigning patients to subgroups. The overall 7-year event-free survival for the entire cohort was 78% (± 2%), with the overall survival rate being 79% (± 2%), the cumulative incidence of relapse 12% (± 2%), and the cumulative incidence of toxic death 7% (± 1%). Outcome estimates showed large differences across the different cytogenetic subgroups. Based on the cumulative incidence of relapse, we could risk-stratify patients into two groups: cases with a normal karyotype (n=103) with a higher cumulative incidence of relapse (21%± 4%) than cases with an aberrant karyotype (n=255) with a cumulative incidence of relapse of 9% (± 2%) (P=0.004). Multivariate analyses revealed that white blood cell count ≥ 20 × 10(9)/L and age >3 years were independent predictors for poor event-free survival, while normal karyotype independently predicted inferior overall survival, event-free survival, and relapse-free survival. In conclusion, this study showed large differences in outcome within patients with myeloid leukemia of Down syndrome and identified novel prognostic groups that predicted clinical outcome and hence may be used for stratification in future treatment protocols.

  15. Semen abnormalities with SSRI antidepressants.

    Science.gov (United States)

    2015-01-01

    Despite decades of widespread use, the adverse effect profile of "selective" serotonin reuptake inhibitor (SSRI) antidepressants has still not been fully elucidated. Studies in male animals have shown delayed sexual development and reduced fertility. Three prospective cohort studies conducted in over one hundred patients exposed to an SSRI for periods ranging from 5 weeks to 24 months found altered semen param-eters after as little as 3 months of exposure: reduced sperm concentration, reduced sperm motility, a higher percentage of abnormal spermatozoa, and increased levels of sperm DNA fragmentation. One clinical trial showed growth retardation in children considered depressed who were exposed to SSRls. SSRls may have endocrine disrupting properties. Dapoxetine is a short-acting serotonin reuptake inhibitor that is chemically related to fluoxetine and marketed in the European Union for men complaining of premature ejaculation. But the corresponding European summary of product characteristics does not mention any effects on fertility. In practice, based on the data available as of mid-2014, the effects of SSRI exposure on male fertility are unclear. However, it is a risk that should be taken into account and pointed out to male patients who would like to father a child or who are experiencing fertility problems.

  16. [Renal abnormalities in ankylosing spondylitis].

    Science.gov (United States)

    Samia, Barbouch; Hazgui, Faiçal; Abdelghani, Khaoula Ben; Hamida, Fethi Ben; Goucha, Rym; Hedri, Hafedh; Taarit, Chokri Ben; Maiz, Hedi Ben; Kheder, Adel

    2012-07-01

    We will study the epidemiologic, clinical, biological, therapeutic, prognostic characteristics and predictive factors of development of nephropathy in ankylosing spondylitis patients. We retrospectively reviewed the medical record of 32 cases with renal involvement among 212 cases of ankylosing spondylitis followed in our service during the period spread out between 1978 and 2006. The renal involvement occurred in all patients a mean of 12 years after the clinical onset of the rheumatic disease. Thirty-two patients presented one or more signs of renal involvement: microscopic hematuria in 22 patients, proteinuria in 23 patients, nephrotic syndrome in 11 patients and decreased renal function in 24 patients (75%). Secondary renal amyloidosis (13 patients), which corresponds to a prevalence of 6,1% and tubulointerstitial nephropathy (7 patients) were the most common cause of renal involvement in ankylosing spondylitis followed by IgA nephropathy (4 patients). Seventeen patients evolved to the end stage renal disease after an average time of 29.8 ± 46 months. The average follow-up of the patients was 4,4 years. By comparing the 32 patients presenting a SPA and renal disease to 88 with SPA and without nephropathy, we detected the predictive factors of occurred of nephropathy: tobacco, intense inflammatory syndrome, sacroileite stage 3 or 4 and presence of column bamboo. The finding of 75% of the patients presented a renal failure at the time of the diagnosis of renal involvement suggests that evidence of renal abnormality involvement should be actively sought in this disease.

  17. Biochemical abnormalities in Pearson syndrome.

    Science.gov (United States)

    Crippa, Beatrice Letizia; Leon, Eyby; Calhoun, Amy; Lowichik, Amy; Pasquali, Marzia; Longo, Nicola

    2015-03-01

    Pearson marrow-pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic insufficiency. Children who survive the severe bone marrow dysfunction in childhood develop Kearns-Sayre syndrome later in life. Here we report on four new cases with this condition and define their biochemical abnormalities. Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients. Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic only in one), and an unusual organic aciduria with 3-hydroxyisobutyric aciduria in one patient. Biochemical analysis indicated low levels of plasma citrulline and arginine, despite low-normal ammonia levels. Regression analysis indicated a significant correlation between each intermediate of the urea cycle and the next, except between ornithine and citrulline. This suggested that the reaction catalyzed by ornithine transcarbamylase (that converts ornithine to citrulline) might not be very efficient in patients with Pearson syndrome. In view of low-normal ammonia levels, we hypothesize that ammonia and carbamylphosphate could be diverted from the urea cycle to the synthesis of nucleotides in patients with Pearson syndrome and possibly other mitochondrial disorders.

  18. Hemostatic abnormalities in liver cirrhosis

    Directory of Open Access Journals (Sweden)

    Kendal YALÇIN

    2009-06-01

    Full Text Available In this study, 44 patients with liver cirrhosis were investigated for hemostatic parameters. Patients with spontaneous bacterial peritonitis, hepatocellular carcinoma, hepatorenal syndrome and cholestatic liver diseases were excluded. Patients were classified by Child-Pugh criterion and according to this 4 patients were in Class A, 20 in Class B and 20 in C. Regarding to these results, it was aimed to investigate the haematological disturbances in liver cirrhotic patients.In the result there was a correlation between activated partial thromboplastin time, serum iron, ferritin, transferrin, haptoglobin and Child-Pugh classification. Besides there was no correlation between prothrombin time, factor 8 and 9, protein C and S, anti-thrombin 3, fibrinogen, fibrin degradation products, serum iron binding capacity, hemoglobin, leukocyte, mean corpuscular volume and Child-Pugh classification.There were significant difference, in terms of AST, ferritin, haptoglobulin, sex and presence of ascites between groups (p0.05. In the summary, we have found correlation between hemostatic abnormalities and disease activity and clinical prognosis in patients with liver cirrhosis which is important in the management of these patients. This is also important for identification of liver transplant candidiates earlier.

  19. Karyotypes of Akodon orophilus Osgood 1913 and Thomasomys sp. (Rodentia: Sigmodontinae from Huánuco, Peru

    Directory of Open Access Journals (Sweden)

    Víctor Pacheco

    2012-10-01

    Full Text Available Conventional chromosomal preparations were made of three native mice from Huánuco, Peru: a male and a female of Thomasomys sp., and a male of Akodon orophilus. Thomasomys sp. had a karyotype of 2n = 42, XY (n = 21, meanwhile A. orophilus presented 2n = 22, XY (n = 11. Comparisons between chromosomal pairs from the existent literature indicate that both are new karyotypes. Thomasomys sp. has a distinct sexual Y chromosome, the only metacentric (m reported for the genus. The chromosomes X and Y of A. orophilus are acrocentrics (a; and the length of chromosome Y (2/3 of the length of X distinguishes A. orophilus from other congeneric. Because the structural differences between the sexual chromosomes usually generates mechanism of reproductive isolation at intraspecific level and are bigger still in interspecific crosses, we concluded that the karyotypes reported here support the validity of the species A. orophilus and suggest that Thomasomys sp. represents a new species to science.

  20. 番红花染色体核型分析%Study on karyotype of Crocus sativus

    Institute of Scientific and Technical Information of China (English)

    宋芸; 乔永刚; 牛颜冰; 刘建东; 仇莎

    2011-01-01

    通过对番红花根尖细胞进行染色体常规制片,并进行核型分析.结果显示,番红花为2倍体(2n=2x=24)植物,核型公式为K(2n)=2x=24=2t+2st+8sm+12m,其中,中部着丝粒染色体(m)6对,近中部着丝粒染色体(sm)4对,近端着丝粒染色体(st)1对,端着丝粒染色体(t)1对.核型类型为2B,并且倍性不是造成番红花不结实的主要原因.%The karyotype of Crocus sativus was analyzed by the chromosomal preparation of its root tip cell. The results showed that the chromosome number was 2n = 24 and its karyotype formula was K(2n) = 2x = 24 = 2t+2st+8sm+ 12m. There were six pairs of metacentric chromosome, four pairs of sub-metacentric chromosome, one pair of acrocentric chromosome and one pair of telocentric chromosome. The karyotype of Crocus sativus belonged to "2B" of Stebbins. The ploidy of saffron was not the reason of the sterility.

  1. Molecular karyotype and chromosomal localization of genes encoding ß-tubulin, cysteine proteinase, hsp 70 and actin in Trypanosoma rangeli

    Directory of Open Access Journals (Sweden)

    CB Toaldo

    2001-01-01

    Full Text Available The molecular karyotype of nine Trypanosoma rangeli strains was analyzed by contour-clamped homogeneous electric field electrophoresis, followed by the chromosomal localization of ß-tubulin, cysteine proteinase, 70 kDa heat shock protein (hsp 70 and actin genes. The T. rangeli strains were isolated from either insects or mammals from El Salvador, Honduras, Venezuela, Colombia, Panama and southern Brazil. Also, T. cruzi CL-Brener clone was included for comparison. Despite the great similarity observed among strains from Brazil, the molecular karyotype of all T. rangeli strains analyzed revealed extensive chromosome polymorphism. In addition, it was possible to distinguish T. rangeli from T. cruzi by the chromosomal DNA electrophoresis pattern. The localization of ß-tubulin genes revealed differences among T. rangeli strains and confirmed the similarity between the isolates from Brazil. Hybridization assays using probes directed to the cysteine proteinase, hsp 70 and actin genes discriminated T. rangeli from T. cruzi, proving that these genes are useful molecular markers for the differential diagnosis between these two species. Numerical analysis based on the molecular karyotype data revealed a high degree of polymorphism among T. rangeli strains isolated from southern Brazil and strains isolated from Central and the northern South America. The T. cruzi reference strain was not clustered with any T. rangeli strain.

  2. Karyotypic Evolution in Malagasy Flying Foxes (Pteropodidae, Chiroptera) and Their Hipposiderid Relatives as Determined by Comparative Chromosome Painting.

    Science.gov (United States)

    Richards, Leigh R; Rambau, Ramugondo V; Goodman, Steven M; Taylor, Peter J; Schoeman, M Corrie; Yang, Fengtang; Lamb, Jennifer M

    2016-01-01

    Pteropodidae and Hipposideridae are 2 of the 9 chiropteran families that occur on Madagascar. Despite major advancements in the systematic study of the island's bat fauna, few karyotypic data exist for endemic species. We utilized G- and C-banding in combination with chromosome painting with Myotismyotis probes to establish a genome-wide homology among Malagasy species belonging to the families Pteropodidae (Pteropus rufus 2n = 38; Rousettus madagascariensis, 2n = 36), Hipposideridae (Hipposideros commersoni s.s., 2n = 52), and a single South African representative of the Rhinolophidae (Rhinolophus clivosus, 2n = 58). Painting probes of M. myotis detected 26, 28, 28, and 29 regions of homology in R. madagascariensis, P. rufus, H. commersoni s.s, and R. clivosus, respectively. Translocations, pericentric inversions, and heterochromatin additions were responsible for karyotypic differences amongst the Malagasy pteropodids. Comparative chromosome painting revealed a novel pericentric inversion on P. rufus chromosome 4. Chromosomal characters suggest a close evolutionary relationship between Rousettus and Pteropus. H. commersoni s.s. shared several chromosomal characters with extralimital congeners but did not exhibit 2 chromosomal synapomorphies proposed for Hipposideridae. This study provides further insight into the ancestral karyotypes of pteropodid and hipposiderid bats and corroborates certain molecular phylogenetic hypotheses.

  3. A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH

    Directory of Open Access Journals (Sweden)

    Hamideh Karimi

    2014-07-01

    Full Text Available Klinefelter syndrome (KS is the most common sex chromosomal disorder in men. Most of these patients show the 47,XXY karyotype, whereas approximately 15% of them are mosaics with variable phenotype. A 39-year-old male investigated for primary infertility, was clinically normal with small firm testes and elevated levels of FSH, LH and low level of testosterone. Total azoospermia was confirmed on semen analysis. Testicular histopathology revealed no spermatogenesis and absence of germ cells. Karyotype from whole blood culture showed cells with 47,XXY/46,XX/ 45,X/48,XXXY/ 46,XY mosaicism. The predominant cell line was 47,XXY (83.67%. This was confirmed by fluorescence in situ hybridization (FISH. Also the presence of a small population of cells with the 48,XXXY and 45,X karyotypes was detected by FISH. This case illustrates the utility of FISH as an adjunct to conventional cytogenetics in assess the chromosome copy number in each cell line of a mosaic.

  4. Karyotyping of Brassica oleracea L.based on rDNA and Cot-1 DNA fluorescence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    WANG Taixia; WU Chunhong; HUANG Jinyong; WEI Wenhui

    2007-01-01

    To explore an effective and reliable karyotyping method in Brassica crop plants,Cot-1 DNA was isolated from Brassica oleracea genome,labeled as probe with Biotin-Nick Translation Mix kit,in situ hybridized to mitotic spreads,and where specific fluorescent bands showed on each chromosome pair.25S and 5S rDNA were labeled as probes with DIG-Nick Translation Mix kit and Biotin-Nick Translation Mix kit,respectively,in situ hybridized to mitotic preparations,where 25S rDNA could be detected on two chromosome pairs and 5S rDNA on only one.Cot-1 DNA contains rDNA and chromosome sites identity between Cot-1 DNA and 25S rDNA was determined by dual-colour fluorescence in situ hybridization.All these showed that the karyotyping technique based on a combination of rDNA and Cot-1 DNA chromosome landmarks is superior to all but one.A more exact karyotype ofB.oleracea has been analyzed based on a combination of rDNA sites,Cot-1 DNA fluorescent bands,chromosome lengths and arm ratios.

  5. Cytogenetic characterization of complex karyotypes in seven established melanoma cell lines by multiplex fluorescence in situ hybridization and DAPI banding.

    Science.gov (United States)

    Schulten, Hans Jürgen; Gunawan, Bastian; Otto, Friedrich; Hassmann, René; Hallermann, Christian; Noebel, Albrecht; Füzesi, László

    2002-03-01

    We report the use of multiplex fluorescence in situ hybridization (M-FISH) to resolve chromosomal aberrations in seven established melanoma cell lines with hypotriploid to hypertetraploid complex karyotypes. By simultaneous identification of all human chromosomes in single FISH experiments using a set of 52 directly labeled, whole chromosome painting probes, cryptic chromosomal translocations and the origin of unclear chromosomal material in structural rearranged and marker chromosomes could be identified, refining the tumor karyotypes in all seven cell lines. The number of structural aberrations in each cell line assigned with combined M-FISH and DAPI banding analysis ranged from 15 to 45. Altogether, 275 breakpoints could be assigned to defined chromosomal regions or bands. The chromosome arms 1p, 6q, 7p, 9p, and 11q which are known to be nonrandomly associated with melanoma tumorigenesis, were frequently involved in chromosomal breaks and/or copy number changes. This study also demonstrated the practical usefulness of combining M-FISH with conventional cytogenetic banding techniques for the characterization of complex tumor karyotypes with massive genomic alterations.

  6. Variation of karyotype and nuclear DNA content among four species of Plectranthus L’ Héritier, 1788 (Lamiaceae) from Brazil

    Science.gov (United States)

    Nani, Thaís Furtado; Mesquita, Amanda Teixeira; Bustamante, Fernanda de Oliveira; Barbosa, Sandro; Barbosa, João Vítor Calvelli; Davide, Lisete Chamma

    2015-01-01

    Abstract Plectranthus is a genus which includes species of ornamental and medicinal potential. It faces taxonomic problems due to aggregating species previously belonging to the genus Coleus, a fact that has contributed to the existence of various synonymies. The species Plectranthus amboinicus, Plectranthus barbatus, Plectranthus grandis and Plectranthus neochilus are included in this context. Some authors consider Plectranthus barbatus and Plectranthus grandis as synonyms. The present work was carried out with the aim of comparing plants of the above-mentioned species, originating from different localities in Brazil, with regards to chromosome number and karyotypic morphology, correlated to the nuclear DNA content. There was no variation in chromosome number among plants of the same species. Plectranthus amboinicus was the only species to exhibit 2n=34, whereas the others had 2n=30. No karyotypic differences were found among the plants of each species, except for Plectranthus barbatus. The plants of the Plectranthus species revealed little coincidence between chromosome pairs. The nuclear DNA content allowed grouping Plectranthus amboinicus and Plectranthus neochilus, with the highest mean values, and Plectranthus grandis and Plectranthus barbatus with the lowest ones. Differences in DNA amount among the plants were identified only for Plectranthus barbatus. These results allow the inference that the populations of Plectranthus amboinicus and Plectranthus neochilus present coincident karyotypes among their plants, and Plectranthus grandis is probably a synonym of Plectranthus barbatus. PMID:26753074

  7. Variation of karyotype and nuclear DNA content among four species of Plectranthus L' Héritier, 1788 (Lamiaceae) from Brazil.

    Science.gov (United States)

    Nani, Thaís Furtado; Mesquita, Amanda Teixeira; Bustamante, Fernanda de Oliveira; Barbosa, Sandro; Barbosa, João Vítor Calvelli; Davide, Lisete Chamma

    2015-01-01

    Plectranthus is a genus which includes species of ornamental and medicinal potential. It faces taxonomic problems due to aggregating species previously belonging to the genus Coleus, a fact that has contributed to the existence of various synonymies. The species Plectranthus amboinicus, Plectranthus barbatus, Plectranthus grandis and Plectranthus neochilus are included in this context. Some authors consider Plectranthus barbatus and Plectranthus grandis as synonyms. The present work was carried out with the aim of comparing plants of the above-mentioned species, originating from different localities in Brazil, with regards to chromosome number and karyotypic morphology, correlated to the nuclear DNA content. There was no variation in chromosome number among plants of the same species. Plectranthus amboinicus was the only species to exhibit 2n=34, whereas the others had 2n=30. No karyotypic differences were found among the plants of each species, except for Plectranthus barbatus. The plants of the Plectranthus species revealed little coincidence between chromosome pairs. The nuclear DNA content allowed grouping Plectranthus amboinicus and Plectranthus neochilus, with the highest mean values, and Plectranthus grandis and Plectranthus barbatus with the lowest ones. Differences in DNA amount among the plants were identified only for Plectranthus barbatus. These results allow the inference that the populations of Plectranthus amboinicus and Plectranthus neochilus present coincident karyotypes among their plants, and Plectranthus grandis is probably a synonym of Plectranthus barbatus.

  8. Hybrids between olive flounder Paralichthys olivaceus and stone flounder Kareius bicoloratus: karyotype, allozyme and RAPD analyses

    Science.gov (United States)

    You, Feng; Wang, Wei; Xu, Dongdong; Zhu, Xiangping; Ni, Jing; Wu, Zhihao; Xu, Yongli; Wang, Xincheng; Zhang, Peijun

    2009-05-01

    The hybrid between olive flounder Paralichthys olivaceus and stone flounder Kareius bicoloratus was produced by artificial insemination of olive flounder eggs with stone flounder sperm. Sinistral and dextral are two types of hybrid progeny after metamorphosis. Karyotypes of both hybrid flounders are the same as those of the two parental species. Of the 22 loci examined from 12 allozymes, 12 confirmed hybridization of the paternal and maternal loci in hybrids and no difference was found in allozyme patterns of sinistral and dextral hybrid fishes. RAPD patterns of these specimens were also studied with 38 primers selected from 104 tested. Among them, the PCR products of 30 primers showed hybridization of the paternal and maternal bands. Genetic variation between hybrids and their parental stocks was analyzed by RAPD using 10 of the above 38 primers. The average heterozygosity and genetic distance were calculated. The results suggested that the filial generation could inherit a little more genetic materials from paternal fish than that from maternal fish.

  9. Karyotype and nuclear DNA content of hexa-, octo-, and duodecaploid lines of Bromus subgen. Ceratochloa

    Directory of Open Access Journals (Sweden)

    Joanna Klos

    2009-01-01

    Full Text Available The subgenus Ceratochloa of the genus Bromus includes a number of closely related allopolyploid forms or species that present a difficult taxonomic problem. The present work combines data concerning chromosome length, heterochromatin distribution and nuclear genome size of different 6x, 8x and 12x accessions in this subgenus. Special attention is paid to the karyotype structure and genomic constitution of duodecaploid plants recently found in South America. Hexaploid lineages possess six almost indistinguishable genomes and a nuclear DNA content between 12.72 pg and 15.10 pg (mean 1Cx value = 2.32 pg, whereas octoploid lineages contain the same six genomes (AABBCC plus two that are characterized by longer chromosomes and a greater DNA content (1Cx = 4.47 pg. Two duodecaploid accessions found in South America resemble each other and apparently differ from the North American duodecaploid B. arizonicus as regards chromosome size and nuclear DNA content (40.00 and 40.50 pg vs. 27.59 pg. These observations suggest that the South American duodecaploids represent a separate evolutionary lineage of the B. subgenus Ceratochloa, unrecognized heretofore.

  10. Description of the karyotype of Rhagomys rufescens Thomas, 1886 (Rodentia, Sigmodontinae from Southern Brazil Atlantic forest

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    André Filipe Testoni

    2010-01-01

    Full Text Available Rhagomys rufescens (Rodentia: Sigmodontinae is an endemic species of the Atlantic forest from Southern and Southeastern Brazil. Some authors consider Rhagomys as part of the tribe Thomasomyini; but its phylogenetic relationships remain unclear. Chromosomal studies on eight specimens of Rhagomys rufescens revealed a diploid number of 2n = 36 and a number of autosome arms FN = 50. GTG, CBG and Ag-NOR banding and CMA3/DAPI staining were performed on metaphase chromosomes. Eight biarmed and nine acrocentric pairs were found in the karyotype of this species. The X and Y chromosomes were both acrocentric. Most of the autosomes and the sex chromosomes showed positive C-bands in the pericentromeric region. The X chromosome showed an additional heterochromatic block in the proximal region of the long arm. Nucleolus organizer regions (NORs were located in the pericentromeric region of three biarmed autosomes (pairs 4, 6 and 8 and in the telomeric region of the short arm of three acrocentrics (pairs 10, 12 and 17. CMA3/DAPI staining produced fluorescent signals in many autosomes, especially in pairs 4, 6, and 8. This study presents cytogenetic data of Rhagomys rufescens for the first time.

  11. Karyotype evolution in apomictic Boechera and the origin of the aberrant chromosomes.

    Science.gov (United States)

    Mandáková, Terezie; Schranz, M Eric; Sharbel, Timothy F; de Jong, Hans; Lysak, Martin A

    2015-06-01

    Chromosome rearrangements may result in both decrease and increase of chromosome numbers. Here we have used comparative chromosome painting (CCP) to reconstruct the pathways of descending and ascending dysploidy in the genus Boechera (tribe Boechereae, Brassicaceae). We describe the origin and structure of three Boechera genomes and establish the origin of the previously described aberrant Het and Del chromosomes found in Boechera apomicts with euploid (2n = 14) and aneuploid (2n = 15) chromosome number. CCP analysis allowed us to reconstruct the origin of seven chromosomes in sexual B. stricta and apomictic B. divaricarpa from the ancestral karyotype (n = 8) of Brassicaceae lineage I. Whereas three chromosomes (BS4, BS6, and BS7) retained their ancestral structure, five chromosomes were reshuffled by reciprocal translocations to form chromosomes BS1-BS3 and BS5. The reduction of the chromosome number (from x = 8 to x = 7) was accomplished through the inactivation of a paleocentromere on chromosome BS5. In apomictic 2n = 14 plants, CCP identifies the largely heterochromatic chromosome (Het) being one of the BS1 homologues with the expansion of pericentromeric heterochromatin. In apomictic B. polyantha (2n = 15), the Het has undergone a centric fission resulting in two smaller chromosomes - the submetacentric Het' and telocentric Del. Here we show that new chromosomes can be formed by a centric fission and can be fixed in populations due to the apomictic mode of reproduction.

  12. Systemic neonatal candidosis: the karyotyping of Candida albicans strains isolated from neonates and health-workers.

    Science.gov (United States)

    Ben Abdeljelil, J; Ben Saida, N; Saghrouni, F; Fathallah, A; Boukadida, J; Sboui, H; Ben Said, M

    2010-01-01

    Candida albicans has become an important cause of nosocomial infections in neonatal intensive care units (NICUs). The aim of the present study was to compare C. albicans strains isolated from neonates (NN) suffering from systemic candidosis and from nurses in order to determine the relatedness between NN and health workers' strains. Thirty-one C. albicans strains were isolated from 18 NN admitted to the NICU of the neonatology service of Farhat Hached Hospital of Sousse, Tunisia and suffering from systemic candidosis, together with five strains recovered from nurses suffering from C. albicans onychomycosis. Two additional strains were tested, one from an adult patient who developed a systemic candidosis and the second from an adult with inguinal intertrigo. All strains were karyotyped by pulsed-field gel electrophoresis (PFGE) with a CHEF-DR II system. Analysis of PFGE patterns yielded by the 38 strains tested led to the identification of three pulsotypes that were designated I, II and III, and consisted of six chromosomal bands with a size ranging from 700 to >2500 kbp. The most widespread was the pulsotype I, which was shared by 17 NN and the five nurses' strains. The identity between NN and nurses' strains is very suggestive of a nosocomial acquisition from health-workers.

  13. The origin of the extra Y chromosome in males with a 47,XYY karyotype.

    Science.gov (United States)

    Robinson, D O; Jacobs, P A

    1999-11-01

    The presence of an extra Y chromosome in males is a relatively common occurrence, the 47,XYY karyotype being found in approximately 1 in 1000 male births. The error of disjunction must occur either during paternal meiosis II or as a post-zygotic mitotic error, both of which are rare events for other chromosomes. It is therefore of interest to determine when errors of Y chromosome disjunction occur. It is possible to distinguish between the different mechanisms of non-disjunction by analysing DNA polymorphisms at the distal tip of the Xp/Yp pseudoautosomal region in 47,XYY males, their parents and in some cases paternal grandparents. A cohort of 28 non-mosaic 47,XYY males was analysed. The results show that there are at least two mechanisms causing non-disjunction of the Y chromosome. In 16 of the 19 cases from which parents were available, the extra Y was generated by non-disjunction at meiosis II after a normal chiasmate meiosis I. Three cases were due to either a post-zygotic mitotic error or non-disjunction at meiosis II after a nullichiasmate meiosis I. Of the nine cases with no parental DNA available, at least four were due to meiosis II non-disjunction following a normal chiasmate meiosis I.

  14. Hybrids between olive flounder Paralichthys olivaceus and stone flounder Kareius bicoloratus: karyotype, allozyme and RAPD analyses

    Institute of Scientific and Technical Information of China (English)

    YOU Feng; WANG Wei; XU Dongdong; ZHU Xiangping; NI Jing; WU Zhihao; XU Yongli; WANG Xincheng; ZHANG Peijun

    2009-01-01

    The hybrid between olive flounder Paralichthys olivaceus and stone flounder Kareius bicoloratus was produced by artificial insemination of olive flounder eggs with stone flounder Sperm. Sinistral and dextral are two types of hybrid progeny after metamorphosis. Karyotypes of both hybrid flounders are the same as those of the two parental species. Of the 22 loci examined from 12 allozymes,12 confirmed hybridization of the paternal and matemal loci in hybrids and no difference was found in allozyme patterns of sinistral and dextral hybrid fishes. RAPD patterns of these specimens were also studied with 38 primers selected from 104 tested. Among them, the PCR products of 30 primers showed hybridization of the paternal and maternal bands. Genetic variation between hybrids and their parental stocks was analyzed by RAPD using 10 of the above 38 primers. The average heterozygosity and genetic distance were calculated. The results suggested that the filial generation could inherit a little more genetic materials from paternal fish than that from maternal fish.

  15. Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation.

    Science.gov (United States)

    Kamel, Alaa K; Abd El-Ghany, Hoda M; Mekkawy, Mona K; Makhlouf, Manal M; Mazen, Inas M; El Dessouky, Nabil; Mahmoud, Wael; Abd El Kader, Shereen A

    2015-01-01

    Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual development (DSD). The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually correlated with peripheral lymphocyte karyotypes, which makes the phenotype prediction imprecise. This study was conducted on 7 Egyptian DSD patients to demonstrate the effect of sex chromosome constitution of both blood lymphocytes and gonadal tissues on the phenotypic manifestations. Conventional cytogenetic and FISH analyses of blood lymphocytes were conducted, and laparoscopy with gonadal biopsy was performed for histopathologic examination and FISH analysis. Gonosomal mosaicism was detected in 3 patients who had a non-mosaic chromosome pattern in blood lymphocytes. Two patients showed the same type of sex chromosome mosaicism in both the blood and gonadal tissues but with different distributions. Two other patients revealed a non-mosaic pattern in both tissues. The present study elucidates the importance of examining sex chromosome mosaicism in gonadal tissues of DSD patients and highlights the critical role of 45,X mosaicism which can lead to serious effects during early gonadal organogenesis.

  16. A new karyotype of Calomyscus from the Khorasan Province, Iran

    Directory of Open Access Journals (Sweden)

    Esmaeeli Somayeh

    2008-07-01

    Full Text Available Abstract We report a new karyotype of Calomyscus from two localities of the Khorasan Province (Aghdarband, 36° 11’ 3”N, 60° 44’ 6” E and Khajemorad, 36° 8’ 5” N, 59° 41’ 58” E. Chromosomes were examined by conventional staining and C-banding techniques. The diploid chromosome number (2n and the fundamental autosomal arm number (FNa were 44 and 60 respectively. The autosomal set consisted of 12 pairs of telocentrics, 5 pairs of acrocentrics and 4 pairs of sub-metacentrics. Both heterosomes were small telocentrics. Riassunto Un nuovo cariotipo del genere Calomyscus dalla provincia di Khorasan, Iran. Si descrive un nuovo cariotipo appartenente al genere Calomyscus, scoperto in due località della provincia di Khorasan (Aghdarband, 36° 11’ 3”N, 60° 44’ 6” E e Khajemorad, 36° 8’ 5” N, 59° 41’ 58” E. I cromosomi sono stati analizzati con le tecniche standard di colorazione e bandeggio. Il numero diploide di cromosomi (2n e il numero fondamentale di bracci autosomici sono risultati pari a 44 e 60 rispettivamente. Il set di cromosomi autosomici è composto da 12 paia di telocentrici, 5 di acrocentrici e 4 di sub-metacentrici. Entrambi i cromosomi sessuali si presentano come piccoli telocentrici.

  17. Karyotype, heterochromatin distribution and meiosis of Zabrotes subfasciatus (Bohemann) (Coleoptera: Chrysomelidae, Bruchinae)

    Energy Technology Data Exchange (ETDEWEB)

    Correa, Ronan X.; Santos, Igor S.; Silva, Janisete G.; Costa, Marco A. [Universidade Estadual de Santa Cruz, Ilheus, BA (Brazil). Dept. de Ciencias Biologicas; Pompolo, Silvia G. [Universidade Federal de Vicosa, MG (Brazil). Dept. de Biologia Geral

    2008-09-15

    Zabrotes subfasciatus (Boh.) has been extensively studied in its agronomic and biochemical aspects due to its importance as a damaging insect to leguminous grains during storage. The few cytogenetic studies published on this species yielded conflicting results. In this study, the karyotype was analyzed in order to accurately describe the chromosome C-banding patterns and meiosis. The brain ganglion at the pre pupa and the adult and pupal testes were analyzed. All individuals had 26 chromosomes in both brain ganglion and spermatogonic mitotic metaphases. These chromosomes were classified as follows: the 12{sup th} pair and the Y chromosome were telocentric; the X chromosome was acrocentric; the 4{sup th} and 5{sup th} pairs were sub metacentric; and the remaining pairs were all metacentric. One of the members of the 5{sup th} pair presented a secondary constriction. All chromosomes presented pericentromeric heterochromatin. The large arms of the pairs 5, 9 and X presented heterochromatin. The X chromosome showed to be heteropyknotic throughout the prophase of the fi rst meiotic division. The sub phases of prophase I were atypical and meiosis II was rarely identified. Testes of all males showed a few cells; the bivalents were rod-like shaped in metaphase I. Karyological formulae were 2n = 24 + XX in females and 2n = 24 + XYp and either n = 12 + X or n = 12 + Y in males. (author)

  18. Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture.

    Science.gov (United States)

    Conte, N; Varela, I; Grove, C; Manes, N; Yusa, K; Moreno, T; Segonds-Pichon, A; Bench, A; Gudgin, E; Herman, B; Bolli, N; Ellis, P; Haddad, D; Costeas, P; Rad, R; Scott, M; Huntly, B; Bradley, A; Vassiliou, G S

    2013-09-01

    Advances in sequencing technologies are giving unprecedented insights into the spectrum of somatic mutations underlying acute myeloid leukaemia with a normal karyotype (AML-NK). It is clear that the prognosis of individual patients is strongly influenced by the combination of mutations in their leukaemia and that many leukaemias are composed of multiple subclones, with differential susceptibilities to treatment. Here, we describe a method, employing targeted capture coupled with next-generation sequencing and tailored bioinformatic analysis, for the simultaneous study of 24 genes recurrently mutated in AML-NK. Mutational analysis was performed using open source software and an in-house script (Mutation Identification and Analysis Software), which identified dominant clone mutations with 100% specificity. In each of seven cases of AML-NK studied, we identified and verified mutations in 2-4 genes in the main leukaemic clone. Additionally, high sequencing depth enabled us to identify putative subclonal mutations and detect leukaemia-specific mutations in DNA from remission marrow. Finally, we used normalised read depths to detect copy number changes and identified and subsequently verified a tandem duplication of exons 2-9 of MLL and at least one deletion involving PTEN. This methodology reliably detects sequence and copy number mutations, and can thus greatly facilitate the classification, clinical research, diagnosis and management of AML-NK.

  19. Variant Turner Syndrome With 46, X, i(Xq Karyotype: A Case Report

    Directory of Open Access Journals (Sweden)

    Mahmut Balkan

    2005-01-01

    Full Text Available Case was 14 years-old girl having complaints of growth retardations and primary amenorrhea. In the physical and gynecological examinations; her height and weight were 130 cm and 45 kg, respectively and secondary sex characteristics were infantile and hymen annular was intact and the depth of vagina was 7 cm and, palpitate of pelvis was empty. The case did not show broad chest, neck webbing and low posterior hairline. Uterus dimensions were 11x7x4 mm and ovaries were not seen in ultrasonographyic examination. Karyotypes in the peripheral blood cells were variant Turner Syndrome with isochromosome Xq constitution; 46,X, i(Xq, so made detailed laboratory analysis. She had high plasma gonadotropin and low estradiol and progesterone and slightly high plasma TSH and slightly low free T3 and T4 hormone levels. Ultrasonography showed that thyroid was diffuse. Insulin and growth hormone levels were normal. The bone age was 10-11 year and compatible with her age. IQ test in the patient was found the normal. In the variant turner syndrome, clinic table was slighter than Classic Turner Syndrome as in our case.

  20. Karyotype and NOR-banding of mitotic chromosomes of some Vitis L. species

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    Neiva Izabel Pierozzi

    2011-10-01

    Full Text Available Chromosome studies were performed in V. champinii, V. cinerea, V. girdiana, V. labrusca, V. rotundifolia, V. rupestris and V. vinifera with the purpose of species characterization using chromosome morphometric data and NOR banding. A median ideogram was obtained for each species. The karyotype formula obtained varied from 7m + 12sm to 9m + 11sm. The species showed moderate chromosome asymmetry values according to TF% form, Stebbins, Romero Zarco and Paszko indices. V. champinii and V. girdiana were apart from the other species by CVcl and CVci graphic representation and also formed a group apart in the dendrogram based on Euclidian distances. The chromosome pair number 3 harbors the secondary constriction and a satellite segment in all species analyzed with Giemsa staining and it may be the same observed after NOR banding technique. It seems that the process of speciation in the North American Euvitis species studied involved some discrete changes in chromosome morphometry which have been reflected in the asymmetry index.

  1. Cytogenetics of Aspidogaster limacoides (Trematoda, Aspidogastrea): karyotype, spermatocyte division, and genome size.

    Science.gov (United States)

    Bombarová, Marta; Špakulová, Marta; Kello, Martin; Nguyen, Petr; Bazsalovicsová, Eva; Králová-Hromadová, Ivica

    2015-04-01

    A detailed cytogenetic analysis of the aspidogastrean fluke Aspidogaster limacoides revealed a karyotype consisting of six medium-sized chromosome pairs. The first and the last pairs were two-armed while four remaining were one-armed; 2n = 12, n = 1 m + 1 m - sm + 4a. Fluorescence in situ hybridization with 18S ribosomal DNA (rDNA) probe detected a single cluster of ribosomal genes (NOR) located in pericentromeric regions of the long arms of the third chromosome pair in a site of secondary constriction apparent in meiotic prophase, especially in diplotene. The silver nitrate staining showed only a single active NOR site on one of homologous chromosomes in the majority of spermatogonia and spermatocyte divisions. A course of meiosis corresponded to standard schemes. The nucleolus was apparent in early meiotic spermatocytes and disintegrated by the end of pachytene. For the first time in Aspidogastrea, the genome size was determined. The flow cytometry showed 1.21 pg DNA per haploid nucleus in A. limacoides which is in accordance with relatively low genome sizes of other flukes and tapeworms (Neodermata). A comparison of cytogenetic data available to date in the fluke sister groups Aspidogastrea and Digenea suggests that the lower chromosome number of Aspidogastrea might represent an ancestral condition and their split might have been accompanied by an increase in chromosome number via either chromosome fissions or paleopolyploidy.

  2. Karyotype differentiation and reproductive isolation among natural populations of Drosophila lacertosa

    Institute of Scientific and Technical Information of China (English)

    LI PING HE; HIDE AKI WATABE; YA PING ZHANG; TADASHI AOTSUKA

    2003-01-01

    Drosophila lacertosa is widely distributed from northern India to Far East of Russia throughout China.We have studied geographical distributions of three kinds of chromosomal karyotypes,type D(2n=10,4 pairs of V-shaped metacentric chromosomes and a pair of micro-chromosomes),type L(2n= 10,5V with a pair of large-sized heterochromatic autosomes)and type M(2n=10,5V with middle-sized ones).Type D was found exclusively in local populations of D.lacertosa distributed in Yun-Gui Plateau,southwestern China.Both type L and M have a wide range of distribution,and the former occurred in subtropical regions of China including Taiwan Island,whereas the latter in cool temperate regions of East Asia covering Far East of Russia,Korea and the Japan Islands.A strong premating isolation was detected between flies with type D and those with type L or M.These data demonstrate that genetic differentiation leading to cryptic speciation might have occurred in natural populations of Drosophila lacertosa.

  3. Karyotype analysis of a male exhibiting Meckel's diverticulum and aural atresia

    Energy Technology Data Exchange (ETDEWEB)

    Frizzell, B.; Hicks, M.F. (David Lipscomb Univ., Nashville, TN (United States))

    Patau's Syndrome is caused by inheritance of an extra chromosome 13. It is characterized primarily by severe mental retardation, cleft palate, and retarded growth. Most fetuses expressing Patau's Syndrome spontaneously abort, and those that are born usually die before one year. Both Meckel's diverticulum and aural atresia are defects found in patients with Patau's at levels higher than those in the general population. An otherwise asymptomatic male expressing only Meckel's diverticulum and aural atresia has a female sibling whose son expressed Patau's syndrome. Twenty percent of patients with Patau's show a translocation of part of chromosome 13 to another D chromosome. If a translocation were the cause of the expression of Patau's in this family, it is possible that the normal male inherited a balanced translocation and the Patau's male received an unbalanced translocation. A karyotype analysis of the non-Patau's male was done to determine if such a translocation were present.

  4. Karyotype characterization and ZZ/ZW sex chromosome heteromorphism in two species of the catfish genus Ancistrus Kner, 1854 (Siluriformes: Loricariidae from the Amazon basin

    Directory of Open Access Journals (Sweden)

    Renildo R. de Oliveira

    Full Text Available We present karyotypic characteristics and report on the occurrence of ZZ/ZW sex chromosomes in Ancistrus ranunculus (rio Xingu and Ancistrus sp. "Piagaçu" (rio Purus, of the Brazilian Amazon. Ancistrus ranunculus has a modal number of 2n=48 chromosomes, a fundamental number (FN of 82 for both sexes, and the karyotypic formula was 20m+8sm+6st+14a for males and 19m+9sm+6st+14a for females. Ancistrus sp. "Piagaçu" presented 2n=52 chromosomes, FN= 78 for males and FN= 79 for females. The karyotypic formula was 16m+8sm+2st+26a for males and 16m+9sm+2st+25a for females. The high number of acrocentric chromosomes in karyotype of Ancistrus sp. "Piagaçu" differs from the majority of Ancistrini genera studied so far, and may have resulted from pericentric inversions and translocations. The lower number of chromosomes in A. ranunculus indicates that centric fusions also occurred in the evolution of Ancistrus karyotypes. We conclude that karyotypic characteristics and the presence of sex chromosomes can constitute important cytotaxonomic markers to identify cryptic species of Ancistrus. However, sex chromosomes apparently arose independently within the genus and thus do not constitute a reliable character to analyze phylogenetic relations among Ancistrus species.

  5. Karyotype analysis on 279 couples with recurrent spontaneous abortion in Xinjiang%新疆地区279对反复自然流产夫妇的染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    张彩荣; 郭敏; 王文玲

    2015-01-01

    目的 探讨反复自然流产与染色体异常的关系.方法 抽取279对反复自然流产夫妇的外周血进行淋巴细胞培养,运用染色体G显带技术进行核型分析,对每例患者的标本显微镜下计数30个核型,并镜下分析其中的5个核型,异常者加倍计数分析.结果 279对反复自然流产夫妇中,检出染色体异常核型151例,异常检出率为27.1%,其中常染色体结构异常1 8例,占异常核型12%,包括易位11例,倒位5例,染色体增加片段1例,染色体缺失片段1例;染色体多态性变异133例,占异常核型88.1%,包括Y染色体多态性变异1 08例,占71.5%,其他染色体多态性变异25例,占16.6%.结论 Y染色体多态性变异是导致反复自然流产的重要遗传因素,染色体平衡易位、倒位、多态与反复自然流产有一定的关联,应进一步去探讨其内在的相互关系,为遗传咨询,优生优育提供更加可靠的依据.%Objective To analyze the correlation of abnormal karyotypes with recurrent spontaneous abortion.Methods The chromosomal karyotypes were examined in 279 couples with spontaneous abortion history by using peripheral blood lymphocyte culture and G banding.Results 151 cases of 279 couples were abnormal in karyotype,with an abnormal rate of 27.1%.Among them,there were 12% chromosome structural aberrations (18/151) including 11 translocations,five inversions,one insertion and one deletion and 88.1% chromosome polymorphism (133/151) consisting of 108 Y chromosome and 25 other chromosome variations.Conclusion Y chromosome polymorphism is a significant genetic factor resulting in recurrent spontaneous abortion.Additionally,the balanced translocation,inversion and polymorphism also have correlations with spontaneous abortion.Their correlations should be further studied to provide reliable data for genetic counseling and eugenics.

  6. Platelet enzyme abnormalities in leukemias

    Directory of Open Access Journals (Sweden)

    S Sharma

    2011-01-01

    Full Text Available Aim of the Study: The aim of this study was to evaluate platelet enzyme activity in cases of leukemia. Materials and Methods: Platelet enzymes glucose-6-phosphate dehydrogenase (G6PD, pyruvate kinase (PK and hexokinase (HK were studied in 47 patients of acute and chronic leukemia patients, 16 patients with acute myeloid leukemia (AML(13 relapse, three in remission, 12 patients with acute lymphocytic leukemia (ALL (five in relapse, seven in remission, 19 patients with chronic myeloid leukemia (CML. Results: The platelet G6PD activity was significantly low in cases of AML, ALL and also in CML. G6PD activity was normalized during AML remission. G6PD activity, although persistently low during ALL remission, increased significantly to near-normal during remission (P < 0.05 as compared with relapse (P < 0.01. Platelet PK activity was high during AML relapse (P < 0.05, which was normalized during remission. Platelet HK however was found to be decreased during all remission (P < 0.05. There was a significant positive correlation between G6PD and PK in cases of AML (P < 0.001 but not in ALL and CML. G6PD activity did not correlate with HK activity in any of the leukemic groups. A significant positive correlation was however seen between PK and HK activity in cases of ALL remission (P < 0.01 and CML (P < 0.05. Conclusions: Both red cell and platelet enzymes were studied in 36 leukemic patients and there was no statistically significant correlation between red cell and platelet enzymes. Platelet enzyme defect in leukemias suggests the inherent abnormality in megakaryopoiesis and would explain the functional platelet defects in leukemias.

  7. Alterations and abnormal mitosis of wheat chromosomes induced by wheat-rye monosomic addition lines.

    Directory of Open Access Journals (Sweden)

    Shulan Fu

    Full Text Available BACKGROUND: Wheat-rye addition lines are an old topic. However, the alterations and abnormal mitotic behaviours of wheat chromosomes caused by wheat-rye monosomic addition lines are seldom reported. METHODOLOGY/PRINCIPAL FINDINGS: Octoploid triticale was derived from common wheat T. aestivum L. 'Mianyang11'×rye S. cereale L. 'Kustro' and some progeny were obtained by the controlled backcrossing of triticale with 'Mianyang11' followed by self-fertilization. Genomic in situ hybridization (GISH using rye genomic DNA and fluorescence in situ hybridization (FISH using repetitive sequences pAs1 and pSc119.2 as probes were used to analyze the mitotic chromosomes of these progeny. Strong pSc119.2 FISH signals could be observed at the telomeric regions of 3DS arms in 'Mianyang11'. However, the pSc119.2 FISH signals were disappeared from the selfed progeny of 4R monosomic addition line and the changed 3D chromosomes could be transmitted to next generation stably. In one of the selfed progeny of 7R monosomic addition line, one 2D chromosome was broken and three 4A chromosomes were observed. In the selfed progeny of 6R monosomic addition line, structural variation and abnormal mitotic behaviour of 3D chromosome were detected. Additionally, 1A and 4B chromosomes were eliminated from some of the progeny of 6R monosomic addition line. CONCLUSIONS/SIGNIFICANCE: These results indicated that single rye chromosome added to wheat might cause alterations and abnormal mitotic behaviours of wheat chromosomes and it is possible that the stress caused by single alien chromosome might be one of the factors that induced karyotype alteration of wheat.

  8. Investigation of chromosome abnormalities and early embryonic mortality in goose lines.

    Science.gov (United States)

    Liptói, Krisztina; Hidas, A; Rouvier, R

    2005-01-01

    Early embryonic mortality and chromosome abnormalities were studied in three goose lines: Grey Landes (line 7), White Polish (line 4) and their synthetic line (line 9). Eggs laid at the beginning, in the middle and at the end of the laying season were set. At candling at 5th day after egg set, all eggs (2847) were examined and those showing no normal embryonic development were opened 2847. Dead embryos were classified phenotypically and karyotyped. The mean ratio of embryonic mortality (EM) among fertile eggs was 9.4%, 5.2%, 7.3% in the lines 4, 7 and 9, respectively. The mean ratio of embryos with chromosomal abnormalities (CA) among the dead embryos was 8.0%, 14.8% and 13.1% in the lines 4, 7 and 9, respectively. Gander effect and layer within gander effect on embryo mortality were significant, indicating genetic factors. Father and mother of the layer effects were also significant, showing family effects. Animals producing dead embryos and embryos with chromosome abnormalities in high proportion were selected. In the selected groups the mean EM was 17.7-22.9%, and the mean CA was 11.7-34.7% among the three lines. The repetition of CA was not observed in the reproductive season of following year, while animals repeated the high EM (repeatability coefficient of 0.54). This shows that some part of EM may be resulted from other genetic factors. Ganders and layers progeny of these selected animals showed also high EM. It was concluded that culling pairs giving high EM value in their embryos could increase the average level of embryo viability and that the study of genetic determinism of that trait should be continued in geese.

  9. Chromosomal Karyotypes of Fragaria Plants%草莓属植物染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    时翠平; 牛树启; 葛会波

    2011-01-01

    [目的]分析二倍体野生种草莓的核型,为探讨草莓的起源、进化及遗传育种研究提供依据.[方法]对草莓属(Fragaria)植物4个二倍体种森林草莓(F.vesca L.)、纤细草莓(F.gracilis A.Los.)、黄毛草莓(F.nilgerrenis Schidl)和五叶草莓(F.pentaphylla A.Los.)进行了核型分析.[结果]纤细草莓的核型为2n=2x=14=10m+2sm+2m*,属1B类型;黄毛草莓为2n=2x=14=14m,属IA类型;五叶草莓为2n=2x=14=12m+2sm,属1A类型;森林草莓为2n=2x=14=14m,属lA类型.[结论]草莓二倍体及品种核型对称性为:黄毛草莓>森林草莓>五叶草莓>纤细草莓,供试草莓种的亲缘进化顺序可能为黄毛草莓、森林草莓、五叶草莓、纤细草莓.%[ Objective ] This study was to analyze the karyotypes of wild diploid strawberry species, so as to provide basis for revealing the origins, evolvement and genetic breeding of strawberry. [ Method] Four diploid strawberry species including Fragaria gracilis A. Los, Fragaria nilgerrensis Schidl, Fragaria pentaphylla A. Los. and Fragaria vesca L. were used as experimental materials to analyze their chromosomal karyotypes. [ Result] The karyotype formula for strawberry species tested was as follows: 2n =2x = 14 = 10m +2sm +2m for F. gracilis A. Los , belonging to type lB; 2n =2x = 14 = 14m for F. nilgerrensis Schidl, belonging to type IA; 2n =2x = 14 = 12m +2sm for F. pentaphylla A.Loz. , belonging to type IA; 2n =2x = 14 = 14m for F. vesca L., belonging to type lA. Karyotype analysis showed that karyotypic asymmetry degree of the four species was F. gracilis A. Los. >F. pentaphylla A. Loz. >F. vesca L. >F. nilgerrensis Schidl. [Conclusion] The evolution order of these four species was probably F. gracilis A. Los. , F. pentaphylla A. Loz. , F. vesca L. , F. nilgerrensis Schidl.

  10. Influence of different chromosomal abnormalities in Ph-positive bone marrow cells on the chronic myeloid leukemia course during tyrosine kinase inhibitors therapy

    Directory of Open Access Journals (Sweden)

    O. Yu. Vinogradova

    2012-01-01

    Full Text Available The additional molecular and chromosomal abnormalities (ACA in Phositive cells usually considered as a genetic marker of chronic myeloid leukemia (CML progression. 457 patients in different CML phases received tyrosine kinase inhibitors (1st and 2nd generation were studied. During therapy 50 cases with additional chromosomal abnormalities in Ph+ clone (22 of them in chronic CML phase were revealed (median follow-up from CML diagnosis – 117 months, median imatinib therapy – 62 months. 86 % of patients in chronic phase with Ph+- cell abnormalities were cytogenetic resistance, and their 5-years overall survival was 80 % which was significantly lower than in patients without ACA (p < 0.005. The treatment results depend on chromosomal abnormalities detected. In patients with additional chromosome 8 imatinib therapy is effective, although complete cytogenetic response (CCR is achieved only in the later therapy stages. In patients with additional translocations CCR also achieved with imatinib or 2nd generation TKI. Only a third of patients with additional Ph-chromosome or BCR/ABL amplification achieved complete suppression of Ph+ clone using 2nd generation TKI. The presence of additional chromosome 7 abnormalities and complex karyotype disorders involving isochromosome i(17(q10 are poor prognostic factors of TKI treatment failures.

  11. Influence of different chromosomal abnormalities in Ph-positive bone marrow cells on the chronic myeloid leukemia course during tyrosine kinase inhibitors therapy

    Directory of Open Access Journals (Sweden)

    O. Yu. Vinogradova

    2014-07-01

    Full Text Available The additional molecular and chromosomal abnormalities (ACA in Phositive cells usually considered as a genetic marker of chronic myeloid leukemia (CML progression. 457 patients in different CML phases received tyrosine kinase inhibitors (1st and 2nd generation were studied. During therapy 50 cases with additional chromosomal abnormalities in Ph+ clone (22 of them in chronic CML phase were revealed (median follow-up from CML diagnosis – 117 months, median imatinib therapy – 62 months. 86 % of patients in chronic phase with Ph+- cell abnormalities were cytogenetic resistance, and their 5-years overall survival was 80 % which was significantly lower than in patients without ACA (p < 0.005. The treatment results depend on chromosomal abnormalities detected. In patients with additional chromosome 8 imatinib therapy is effective, although complete cytogenetic response (CCR is achieved only in the later therapy stages. In patients with additional translocations CCR also achieved with imatinib or 2nd generation TKI. Only a third of patients with additional Ph-chromosome or BCR/ABL amplification achieved complete suppression of Ph+ clone using 2nd generation TKI. The presence of additional chromosome 7 abnormalities and complex karyotype disorders involving isochromosome i(17(q10 are poor prognostic factors of TKI treatment failures.

  12. Correlation study of prenatal ultrasound screening system and fetal chromosomal abnormalities%产前系统超声筛查与胎儿染色体异常的相关性研究

    Institute of Scientific and Technical Information of China (English)

    刘智霞

    2015-01-01

    Objective To investigate the correlation of prenatal ultrasound screening system with fetal chromosom-al abnormalities.Methods From July 2013 to July 2014, 115 cases of prenatal ultrasound screening system abnormal sit-uation were selected , invasive prenatal testing was given and chromosome karyotype was analyzed , correlation of ultrasound abnormalities with chromosomal abnormalities were analyzed .Results One hundred and fifteen cases of maternal abnormal ultrasound underwent amniocentesis or umbilical vein by karyotype analysis , chromosomal abnormalities in 28 cases were detecleal among 81 cases of severe abnormal maternal ultrasound , 4 cases of minor cases did not appear abnormal chromo-somal abnormalities, there were significant differences in the incidence of abnormalities of the two groups (P<0.05), the incidence of chromosomal abnormalities reached 45.95% when the fetal congenital heart disease with cardiac malforma-tions.Conclusions Prenatal ultrasound screening system can be found most of the abnormal development of the fetus , which provides a reliable basis for further invasive diagnostic line .%目的 探讨产前系统超声筛查与胎儿染色体异常的相关性. 方法 选择2013年7月至2014年7月行产前系统超声筛查出现异常情况的中晚孕期产妇115例,经产妇同意与产前咨询后,予以侵入性的产前检查并分析染色体的核型,分析超声异常表现与染色体异常的相关性. 结果 115例超声检查出现异常的产妇均接受脐静脉或羊水穿刺,经染色体核型的分析,81例超声检查严重异常产妇检出染色体异常28例,4例微小异常病例未出现染色体异常,两组染色体异常发病率比较差异有统计学意义(P<0.05),当胎儿先心病合并心外畸形时染色体异常发病率达到45.95%. 结论 产前系统超声筛查能发现大部分的胎儿异常发育,从而为进一步行侵入性诊断提供可靠依据.

  13. An Abnormal Psychology Community Based Interview Assignment

    Science.gov (United States)

    White, Geoffry D.

    1977-01-01

    A course option in abnormal psychology involves students in interviewing and observing the activities of individuals in the off-campus community who are concerned with some aspect of abnormal psychology. The technique generates student interest in the field when they interview people about topics such as drug abuse, transsexualism, and abuse of…

  14. Abnormal Event Detection Using Local Sparse Representation

    DEFF Research Database (Denmark)

    Ren, Huamin; Moeslund, Thomas B.

    2014-01-01

    measurement based on the difference between the normal space and local space. Specifically, we provide a reasonable normal bases through repeated K spectral clustering. Then for each testing feature we first use temporal neighbors to form a local space. An abnormal event is found if any abnormal feature...

  15. An Abnormal Vibrational Mode of Torsion Pendulum

    Institute of Scientific and Technical Information of China (English)

    赵亮; 涂英; 顾邦明; 胡忠坤; 罗俊

    2003-01-01

    In the experiment for the determination of the gravitational constant G, we found an abnormal vibrational mode of the torsion pendulum. The abnormal mode disappeared as a magnetic damper was introduced to the torsion pendulum system. Our experimental results also show that the magnetic damper can be used to suppress the high frequency vibrational noises to torsion pendulums effectively.

  16. Abnormal Raman spectral phenomenon of silicon nanowires

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    The Raman spectra of two one-dimensional silicon nanowire samples with different excitation wavelengths were measured and an abnormal phenomenon was discovered that the Raman spectral features change with the wavelengths of excitation. Closer analysis of the crystalline structure of samples and the changes in Raman spectral features showed that the abnormal behavior is the result of resonance Raman scattering selection effect.

  17. Analysis of chromosomal karyotypes, age and height on diagnosis of 232 patients with Turner syndrome%Turner综合征232例染色体核型、诊断年龄和身高分析

    Institute of Scientific and Technical Information of China (English)

    王红; 金煜炜; 瞿宇晋; 宋昉

    2013-01-01

    目的 研究Turner综合征(TS)的染色体核型、诊断年龄和身高的分布特点.方法 对27年随机就诊的1015例身材矮小女童,经过染色体核型分析确定TS的诊断,回顾性统计分析TS患儿的染色体核型、诊断年龄和身高,采用SPSS 11.0软件进行数据统计分析.结果 1.确诊TS患儿232例,诊断率为22.9%.2.共检测到26种异常染色体核型,以45,X和46,Xi(Xq)最为常见,分别为75例(32.4%)和38例(16.4%).其中有21种嵌合体核型,共111例(47.8%).3.TS患儿诊断年龄为(10.90 ±4.55)岁,青春期是诊断高峰.<2岁组15例(6.4%)、2~<7岁组35例(15.1%)、7~ <12岁组93例(40.1%)、12 ~<18岁组89例(38.4%).4.TS患儿身高标准差得分(Z分值)均值为-3.60±1.20,Z分值与诊断年龄之间存在明显的负线性相关(r=-0.613,P<0.000).5.在年龄≥13岁的74例TS患儿中64例(86.5%)出现青春期延迟,而在81例非TS病例中仅22例(27.2%),2组间差异有统计学意义(OR=16.297,P=0.000).结论 1.TS的染色体核型呈多样性.2.TS患儿的身高不足随着年龄的增加更为显著,青春期延迟的特征性表现也逐渐显现.3.国内TS诊断年龄比发达国家延迟;对于身高Z分值低于-2或在身高下限的矮小女童应及早进行染色体核型分析,有益于TS的早期诊断.%Objective To study the distribution characteristics of chromosomal karyotypes,age and height on diagnosis of patients with Turner syndrome(TS).Methods Karyotypes analysis was performed in 1015 girls with short stature who visited the hospital in recent 27 years.And statistical analysis of the chromosomal karyotypes,age and height on the diagnosis of patients with TS were performed by using the SPSS 11.0 software.Results 1.Two hundred and thirty-two (22.9%) patients were diagnosed with TS.2.A total of 26 kinds of abnormal karyotypes were detected in 232 patients with TS and the 45,X (32.4%,75/232 cases) and 46,Xi (Xq) (16.4%,38/232 cases) were

  18. 染色体核型异常患者全基因组芯片扫描结果分析%Analysis on the results of chromosomal microarray in patients with chromosome abnormality

    Institute of Scientific and Technical Information of China (English)

    姚如恩; 傅启华; 余永国

    2014-01-01

    目的:利用全基因组芯片扫描技术对染色体核型检测结果异常的患者样本进行重复检测分析,验证并确认患者染色体的具体核型。方法利用基因分型芯片技术对9例临床表型皆为智力落后合并多发畸形,且核型结果异常的样本进行检测分析,比较两种技术之间结果相符程度,通过芯片平台结果来验证染色体核型技术的准确性,同时分析其临床适用性。结果染色体核型结果和全基因组芯片分析技术的结果完全符合的为2例Turner综合征患者,均为嵌合型;3例染色体核型结果阳性患者,全基因组芯片分析结果为阴性,其中2例为随体增加,1例为染色体内倒位;4例涉及染色体片段大小不同的缺失和复制的患者,核型结果和全基因组芯片结果差异较大,并且核型检测结果与患者实际核型相差较大。结论染色体核型技术在用于以往认定的适应症如智力落后、多发畸形的检测中,检测的准确性相对全基因组芯片技术较低,在明确定位染色体缺失和复制大小及位置的能力上有明显的不足,但对于检测染色体平衡性结构性变化的作用不能被芯片所取代。%Objective To analyze the results of patients with chromosome abnormality by chromosomal microarray, and validate and depict patient′s karyotype.Methods Genotyping array was applied to assess in 9 patients with hypophrenia and deformity.The samples with karyotype analysis abnormality were determined.Comparison between karyotyping and microarray analysis was considered to validate the clinical utility of chromosomal microarray analysis. Results Two Turner syndrome patients had completely concordant results from karyotype analysis and chromosomal microarray.Three patients showed abnormal karyotyping results (2 patients with excess trabant and 1 patients with chromosomal inversion) were detected negative with chromosomal microarray

  19. The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.

    Science.gov (United States)

    Riedijk, Sam; Diderich, Karin E M; van der Steen, Sanne L; Govaerts, Lutgarde C P; Joosten, Marieke; Knapen, Maarten F C M; de Vries, Femke A T; van Opstal, Diane; Tibben, Aad; Galjaard, Robert-Jan H

    2014-07-03

    Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects more clinically relevant anomalies, including early onset disorders, not related to the indication and more genetic anomalies of yet unquantifiable risk, so-called susceptibility loci (SL) for mainly neurodevelopmental disorders. This manuscript highlights the psychological challenges in prenatal genetic counselling when using the array and provides counselling suggestions. First, we suggest that pre-test decision counselling should emphasize deliberation about what pregnant couples wish to learn about the future health of their fetus more than information about possible outcomes. Second, pregnant couples need support in dealing with SL. Therefore, in order to consider the SL in a proportionate perspective, the presence of phenotypes associated with SL in the family, the incidence of a particular SL in control populations and in postnatally ascertained patients needs highlighting during post-test genetic counselling. Finally, the decision that couples need to make about the course of their pregnancy is more complicated when the expected phenotype is variable and not quantifiable. Therefore, during post-test psychological counseling, couples should concretize the options of continuing and ending their pregnancy; all underlying feelings and thoughts should be made explicit, as well as the couple's resources, in order to attain adequate decision-making. As such, pre- and post-test counselling aids pregnant couples in handling the uncertainties that may accompany offering a broader scope of genetic PND using the array.

  20. 红球姜核型分析%Karyotype Analysis of Zingiber zerumbet

    Institute of Scientific and Technical Information of China (English)

    赵丽娟; 吴勋

    2011-01-01

    In order to identify the chromosomes of Zingibe zerumbet and preliminarily reveal its genome structure, CPD (combined PI and DAPI)staining and fluorescence in situ hybridization (FISH) with 45S rDNA probe were applied to analyze the mitotic metaphase chromosomes. Results showed that two pairs of 45S rDNA sites were respectively detected on the short arms of the chromosome 5 and 10, corresponding to the prominent red CPD bands. The molecular cytogenetic karyotypes of Zingibe zerumbet was constructed based on the data of rDNA and chromosome measurements.%为了对红球姜(Zingibe zerumbet)的染色体进行识别,并对该物种基因组的结构进行初步研究,利用PI和DAPI组(CPD)染色与45SrDNA探针荧光原位杂交对中期染色体进行了分析。结果显示,红球姜具有2对45SrDNA位点。分别位于第5号和第10号染色体的短臂,对应于相应染色体上的显著CPD带区。基于rDNA位点和染色体测量数据.建立了红球姜准确而详细的分子细胞遗传学核型。