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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

    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. Frequent genomic abnormalities in acute myeloid leukemia/myelodysplastic syndrome with normal karyotype

    Akagi, Tadayuki; Ogawa, Seishi; Dugas, Martin; KAWAMATA, NORIHIKO; Yamamoto, Go; Nannya, Yasuhito; Sanada, Masashi; Miller, Carl W.; Yung, Amanda; Schnittger, Susanne; Haferlach, Torsten; Haferlach, Claudia; Koeffler, H. Phillip

    2009-01-01

    In this study, single-nucleotide polymorphism microarray analysis was employed to identify hidden genomic abnormalities in patients with acute myeloid leukemia. The findings suggest that at least one half of cases with normal karyotype have readily identifiable genomic abnormalities.

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

    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.

  4. Prevalence of chromosomal abnormalities and timing of karyotype analysis in patients with recurrent implantation failure (RIF) following assisted reproduction

    De Sutter, P.; Stadhouders, R.; Dutré, M.; Gerris, J.; Dhont, M.

    2012-01-01

    Aims: To analyze the prevalence and type of karyotype abnormalities in RIF patients and to evaluate the adequate timing for analysis and the presence of possible risk factors. Methods: 615 patients (317 women and 298 men) with RIF, having undergone at least 3 sequential failed IVF/ICSI cycles prior to karyotype analysis, were included in this study. Anomaly rates found were compared with published series. Results: Chromosomal abnormalities were diagnosed in 2.1% of patients (13/615): 8 female...

  5. Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity

    Irminger-Finger Irmgard

    2008-08-01

    Full Text Available Abstract Malignant melanomas are characterized by increased karyotypic complexity, extended aneuploidy and heteroploidy. We report a melanoma metastasis to the peritoneal cavity with an exceptionally stable, abnormal pseudodiploid karyotype as verified by G-Banding, subtelomeric, centromeric and quantitative Fluorescence in Situ Hybridization (FISH. Interestingly this tumor had no detectable telomerase activity as indicated by the Telomere Repeat Amplification Protocol. Telomeric Flow-FISH and quantitative telomeric FISH on mitotic preparations showed that malignant cells had relatively short telomeres. Microsatellite instability was ruled out by the allelic pattern of two major mononucleotide repeats. Our data suggest that a combination of melanoma specific genomic imbalances were sufficient and enough for this fatal tumor progression, that was not accompanied by genomic instability, telomerase activity, or the engagement of the alternative recombinatorial telomere lengthening pathway.

  6. Congenital and acquired orthopedic abnormalities in patients with myelomeningocele.

    Westcott, M A; Dynes, M C; Remer, E M; Donaldson, J S; Dias, L S

    1992-11-01

    This article presents a radiologic review of the spectrum of acquired and congenital orthopedic abnormalities found in patients with myelomeningocele. These abnormalities are caused predominantly by muscle imbalance, paralysis, and decreased sensation in the lower extremity. Iatrogenic injury, such as a postoperative tethered cord, may also cause bone abnormalities. Selected images were obtained from more than 800 children. Important entities presented include spinal curvatures such as kyphosis, scoliosis, and lordosis; subluxation and dislocation of the hip, coxa valga, contractures of the hip, and femoral torsion; knee deformities; rotational abnormalities of the lower extremity and external and internal torsion; ankle and foot abnormalities such as ankle valgus, calcaneus foot, congenital vertical talus (rocker-bottom deformity), and talipes equinovarus; and metaphyseal, diaphyseal, and physeal fractures. Familiarity with congenital abnormalities and an understanding of the pathogenesis of acquired disorders in patients with myelomeningocele are essential for proper radiologic interpretation and timely therapy. PMID:1439018

  7. Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping.

    Trask, B; van den Engh, G; Nussbaum, R; Schwartz, C; Gray, J

    1990-01-01

    Quantification of the Hoechst and chromomycin A3 fluorescence intensities of mitotic human chromosomes isolated from karyotypically normal and abnormal cells was performed with a dual beam flow cytometer. The resultant flow karyotypes contain information about the relative DNA content and base composition of chromosomes and their relative frequencies in the mitotic cell sample. The relative copy number of X and Y chromosomes was determined for 38 normal males and females and 6 cell lines with X or Y chromosome aneuploidy. Flow karyotype diagnoses corresponded with conventional cytogenetic results in all cases. We show that chromosome DNA content can be derived from peak position in Hoechst vs. chromomycin flow karyotypes. These values are linearly related to propidium iodide staining intensity as measured with flow cytometry and to the binding of gallocyanin chrome alum to phosphate groups as measured with slide-based scanning photometry. Cell lines with deleted or dicentric X chromosomes ranging in length from 0.53 to 1.95 times normal were analyzed by using flow cytometry. The measured difference in DNA content between a normal X and each of the structurally abnormal chromosomes was linearly correlated to the difference predicted from cytogenetics and/or probe analyses. Deletions of 3-5 Mb, which were at and below the detection limits of conventional cytogenetics, could be quantified by flow karyotyping in individuals with X-linked diseases such as Duchenne muscular dystrophy, choroideremia, and ocular albinism/ichthyosis. The results show that the use of flow karyotyping to quantify the size of restricted regions of the genome can complement conventional cytogenetics and other physical mapping techniques in the study of genetic disorders. PMID:2106419

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

    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 (

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

    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...... diagnosed in the first and second trimester, and prenatal and postnatal karyotypes were collected from the Danish Fetal Medicine database. Karyotypes were classified according to whether the chromosome anomaly would have been detected by NIPT, and whether they were likely to affect phenotype Results: c......FTS was completed in 193,638 pregnancies. 10,205 (5.3%) had a karyotype 1,122 (11.0%) were abnormal and 262 (23%) would have been missed by standard NIPT. At the first trimester scan, in thirty-five (13,4%) of these pregnancies a structural anomaly (n=14) or NT above 3.5 mm (n=21) as isolated finding was found...

  10. Study on the relationship between myelodysplastic syndrome with normal karyotype and abnormal karyotype%骨髓增生异常综合征细胞遗传学与形态学的关系研究

    王增胜; 张晓燕; 王晓敏; 李燕; 安利; 朱琳; 刘虹

    2014-01-01

    Objective To investigate the characteristics of the abnormal karyotype and normal karyotype with myelodysplastic syndrome(MDS).Methods A retrospective analysis of 131 MDS patients was conducted.The cell morphology between abnormal karyotype and normal karyotype was compared.Results Of 131 MDS patients,71 cases (56.5%)had clonal chromosomal abnormalities.Pelger nuclear myeloid and lymphoid small megakaryocytes in abnormal karyotype group was significantly higher than the normal karyotype group (P < 0.05).Megaloblastic erythroid-like change,double-nucleated red blood cells,multinucleated red blood cells,the petals nuclear,nuclear fragmentation;the myeloid uneven particle distribution,nuclear pulp imbalance,megaloblastic degeneration,vacuoles,AUER,dual-core; single-round,multi-roundnuclear megakaryocytes,the two groups showed no significant differences (P >0.05).Conclusion Pelger nuclear myeloid,lymphoid small megakaryocytes had significantly higher incidence of abnormal karyotype MDS compared with normal karyotype cell dysplasia,there was some correlation between abnormal karyotype and cell morphology.%目的 比较骨髓增生异常综合征(MDS)异常核型和正常核型的细胞形态学的特征.方法 对诊断明确的131例MDS患者的染色体核型和细胞形态学资料进行回顾性分析,并对异常核型和正常核型组的胞形态学资料进行比较.结果 131例MDS患者中克隆性染色体异常71例(56.5%),异常核型组粒系Pelger核、淋巴样小巨核细胞明显高于正常核型组(P<0.05).红系巨幼样变、双核红细胞、多核红细胞、花瓣核、核碎裂;粒系颗粒分布不均、核浆失衡、巨幼样变、空泡、AUER小体、双核;单圆、多圆核巨核细胞,两组差异无统计学意义(P>0.05).结论 粒系Pelger核、淋巴样小巨核细胞在异常核型MDS较正常核型组细胞病态造血发生率明显增高,染色体核型异常与细胞形态学有一定相关性.

  11. Absence of karyotype abnormalities in patients with familial urothelial cell carcinoma.

    Aben, K.K.H.; Macville, M.V.E.; Smeets, D.F.C.M.; Schoenberg, M.P.; Witjes, J.A.; Kiemeney, L.A.L.M.

    2001-01-01

    OBJECTIVES: In a previous pilot study, a constitutional balanced translocation t(5;20)(p15;q11) was identified in a family with urothelial cell carcinoma (UCC). The purpose of this study was to find (additional) constitutional chromosomal abnormalities in selected families to obtain an indication fo

  12. Significance of chorionic villus karyotype analysis for abnormal early pregnancy ultrasound screening%早孕期超声筛查异常行绒毛核型分析的意义

    吴坚柱; 谢英俊; 陈宝江; 陈健生; 林少宾

    2011-01-01

    目的 探讨早孕期超声筛查异常行绒毛核型分析的意义.方法 对65例早孕期超声筛查发现异常的孕妇行绒毛核型分析.结果 在65例早孕期超声筛查异常孕妇的胎儿绒毛核型中,检出异常核型28例,异常率为43.08%,主要为18-三体、21-三体和45,X.在异常的超声指征中,全身皮下水肿7例,5例核型异常;全身皮下水肿合并其他异常9例,8例核型异常;胚胎停育11例,6例核型异常;鼻骨异常合并其他异常3例,2例核型异常;NT增厚18例,4例核型异常;NT增厚合并其他异常6例,4例核型异常;多发畸形8例,3例核型异常;淋巴水囊瘤1例有核型异常.结论 早孕期超声筛查异常孕妇的胎儿染色体异常率高,对其行绒毛核型分析是必要的.%Objective: To study the significance of chorionic villus karyotype analysis for abnormal early pregnancy ultrasound screening. Methods: Chorionic villus karyotype analysis were done for 65 cases of abnormal early pregnancy ultrasound screening of pregnant women. Results: 28 cases of abnormal karyotypes were detected in 65 cases of fetal chorionic villus karyotypes from pregnant women with abnormal early pregnancy ultrasound screening. The abnormal rate was 43.08%, the mainly abnormal karyotypes were trisomy 18, trisomy 21 and 45, X. Of the indications of abnormal ultrasound systemic subcutaneous edema was found in 7 cases, 5 cases of them had abnormal karyotypes; systemic subcutaneous edema associated with other abnormalities in 9 cases, 8 cases with abnormal karyotypes; embryo damage in 11 cases, 6 cases with abnormal karyotypes; nasal bone abnormalities associated with other abnormalities in 3 cases, 2 cases with abnormal karyotypes; nuchal translucency thickening in 18 cases, 4 cases with abnormal karyotypes; nuchal translucency thickening associated with other abnormalities in 6 cases, 4 cases with abnormal karyotypes; multiple malformations in 8 cases, 3 cases with abnormal karyotypes; lymph

  13. A comparative study on morphological features between myelodysplastic syndrome with normal karyotype and abnormal karyotype%正常核型和异常核型骨髓增生异常综合征的细胞形态学特点比较

    张延清; 王京华; 戴海滨; 徐萍; 李晓云; 戴思明; 高海燕

    2011-01-01

    Objective:To evaluate morphological features of myelodysplastic syndrome (MDS) with normal karyotype or abnormal karyotype. Method:Eighty-two MDS patients were analyzed retrospectively. The morphological features of patients with normal karyotype were compared with those of patients with abnormal karyotype Result:Thirty-one cases (37.8%) were with abnormal karyotype and fifty-one cases (62. 2%) were with normal karyotype. In abnormal karyotype group, myeloblast, macroerythrocyte and prorubricyte more easily presented in peripheral blood (P<0.05). Rates of three lineages dysplasia (>30 % ) , myeloblasts, lymphoid micromegakaryocytes and abnormal platelets were higher in abnormal karyotype group than those in control group (P<0.05). Erythroid multi-nuclei, odd nucleus and mother-child nucleus were observed in abnormal karyotype group. Six patients in abnormal karyotype group transformed to acute myelogenous leukaemia (AML). Conclusion: MDS with abnormal karyotype is with higher incidence of dysplasia, ratio of blast cells and risk of transformation to AML.%目的:比较正常核型和异常核型骨髓增生异常综合征(MDS)的细胞形态学的特点.方法:回顾分析82例MDS患者,通过对正常核型和异常核型MDS患者的细胞形态进行观察,分析二者形态学的差别.结果:核型异常组31例,占37.8%,核型正常组51例,占62.2%,2组外周血比较,核型异常组易出现原粒细胞、早幼红细胞、大红细胞,P30%),P<0.05;原粒、淋巴样小巨核和畸形血小板比例高,P<0.05;核型异常组红系病态造血易见子母核、奇数核和多核,P<0.05;核型异常组有6例转为急性白血病.结论:异常核型MDS较正常核型组细胞病态造血发生率明显增高,原始细胞比例增高,转为白血病的比例高,预后差.

  14. Cytogenetic analysis of 105 new human abnormal karyotypes%105种人类染色体新核型的细胞遗传学报道

    欧珊; 杜娟; 陈少科; 郑陈光; 蒙达华; 张海燕; 邱庆明; 刘天盛; 唐斌

    2013-01-01

    为了探讨异常染色体的遗传效应,采用细胞培养、G显带及C显带的方法,根据人类遗传学国际命名体制(ISCN 2009)对染色体核型命名,对2009年1月至2012年7月就诊广西壮族自治区妇幼保健院检出的新核型进行细胞遗传学及临床分析.在受检者中检出105种人类染色体新核型,经检索国内外文献未见报道.其中易位86例,倒位10例,衍生染色体6例,重复染色体1例,等臂染色体1例,部分重复和缺失1例.结果显示,染色体异常是导致流产、不孕不育、先天畸形、智力低下、闭经等疾病的重要原因.%To analyze the genetic effect of the abnormal chromosome karyotype,we summarized and studied the clinical data of the new abnormal karyotypes diagnosed at the Guangxi Zhuang Autonomous Region Women and Children Care Hospital from January 2009 to July 2012.The samples were cultured routinely for the karyotype analysis using G banding and C banding.Chromosomal aberrations were named according to the International System for Human Cytogenetic Nomenclature (ISCN 2009).Among tested samples,105 new human abnormal karyotypes were identified (86 reciprocal translocation,10 chromosomal inversion,six derivative chromosome,one duplication,one isochromosome,one partial trisomy and monosomy).The results suggest that chromosomal abnormalities were a major cause of miscarriage,infertility,congenital abnormalities,mental retardation and amenorrhea in humans.

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

    Bomme, L; Bardi, G; Pandis, N;

    1994-01-01

    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...... normal karyotype. All adenomas with a tubulovillous or villous architecture had structural rearrangements. Our findings confirm that a subset of colorectal adenomas exists that have only numerical chromosome aberrations. They also support our previous conclusion that loss of material from distal 1p is an...

  16. A causal model of post-traumatic stress disorder: disentangling predisposed from acquired neural abnormalities.

    Admon, Roee; Milad, Mohammed R; Hendler, Talma

    2013-07-01

    Discriminating neural abnormalities into the causes versus consequences of psychopathology would enhance the translation of neuroimaging findings into clinical practice. By regarding the traumatic encounter as a reference point for disease onset, neuroimaging studies of post-traumatic stress disorder (PTSD) can potentially allocate PTSD neural abnormalities to either predisposing (pre-exposure) or acquired (post-exposure) factors. Based on novel research strategies in PTSD neuroimaging, including genetic, environmental, twin, and prospective studies, we provide a causal model that accounts for neural abnormalities in PTSD, and outline its clinical implications. Current data suggest that abnormalities within the amygdala and dorsal anterior cingulate cortex represent predisposing risk factors for developing PTSD, whereas dysfunctional hippocampal-ventromedial prefrontal cortex (vmPFC) interactions may become evident only after having developed the disorder. PMID:23768722

  17. Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9t(7;9(p15;p22pat

    Min Zhong

    2014-01-01

    Full Text Available Infantile spasm (IS is an epilepsy syndrome affecting infants and young toddlers and many causes have been reported, including occasional chromosomal abnormalities. We describe a 6-month-oldboy who experienced his first seizure at 5 months of age. The seizures were characterized by brief head nods and forceful flexion of the trunk and limbs. The patient has been developmentally delayed since birth and had deteriorated remarkably in the last month. Interictal electroencephalography showed modified hypsarrhythmia. Magnetic resonance imaging showed delayed myelination and widened brain extracellular space. Chromosomal analysis revealed the karyotype 46, XY, der(9 t(7;9(p15;p22 pat. His father has the asymptomatic reciprocal translocation t(7;9(p15;p22. This chromosomal abnormality is probably the etiology for the ISs and severe developmental anomalies in this patient. Chromosomal analysis may be done in patients with IS with no obvious cause.

  18. Interactive Karyotyping Training

    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

    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. 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

    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.

  1. 异常核型骨髓增生异常综合征64例预后分析%Prognosis of 64 cases of myelodysplastic syndrome patients with abnormal karyotypes

    董秀娟; 焦雪丽; 刘文刚; 赵晓武

    2012-01-01

    Objective To investigate the correlation between the chromosomal abnormalities and prognosis of the myelodysplastic syndrome (MDS) patients, and analyze the effects of treatment. Methods Karyotype analysis of 122 patients according to the international human cytogenetics (ISCN) criteria.Treatment of RA and RAS were mainly dependent on agents to induce differentiation of hematopoietic cells and drugs based.RAEB,RAEB-t,CMML treatment were dependent on low-dose chemotherapy and low-dose combination chemotherapy regimens. The treatments of 64 MDS patients with abnormal karyotype were analyzed and compared with control group, and 58 normal karyotype MDS patients were hospitalized in the same period.Results After treatments,17 cases gained complete remission among 64 patients with abnormal karyotype MDS patients.The CR rate was 26.6 %.While in control group,30 gained CR in 58 MDS patients with normal karyotype. The CR rate was 51.7 %. Comparing with the CR patients of normal karyotype, the number of patients with abnormal karyotype of CR was significantly lower (x 2 =8.1 3,P < 0.05).Conclusion Karyotype analysis shows important significance in the diagnosis and prognosis of MDS. Karyotype transformation demonstrates differently in the risk of leukemia progress.%目的 探讨骨髓增生异常综合征(MDS)患者染色体异常与预后的关系,对治疗效果进行分析.方法 回顾性分析122例MDS患者染色体核型,用吉姆萨显带法进行检测.难治性贫血(RA)、环形铁幼粒细胞难治性贫血(RAS)的治疗以诱导分化剂及刺激造血药物为主.原始细胞过多难治性贫血(RAEB)、转化型原始细胞过多难治性贫血(RAEB-t)、慢性粒-单核细胞白血病(CMML)的治疗以小剂量化疗和小剂量联合化疗方案为主.分析异常核型MDS患者疗效,以同期住院的正常核型MDS患者为对照.结果 检出异常核型MDS患者64例,治疗后完全缓解(CR)17例,CR率26.6%.同期正常核型MDS患者58

  2. 夫妇染色体核型异常所致复发性流产的治疗分析%Treatment analysis of recurrent miscarriage caused by abnormal chromosome karyotype

    唐萍

    2015-01-01

    Objective To analyze the correlation of abnormal chromosome karyotype and recurrent abortion. Methods From January 2010 to January 2014,sixty hundrad and eighty four recurrent abortion couples were selected as the research object,the peripheral blood chromosome karyotype and the nucleotide polymorphisms were analyzed. Results Abnormal karyotype in recur-rent abortion couples for 155 cases,the total detection rate was 11. 3% . Eight-eight cases of abnormal chromosome karyotype women,the abnormal chromosome karyotype with balanced translocation(34. 4% ),robertsonian translocation(22. 7% )and nucleotide polymorphisms(29. 5% ),followed by inversion(11. 4% )and X chromosome inactivation(2. 3% ). Male chromo-some abnormality of nucleotide polymorphisms as the major type(37. 3% ),followed by balanced translocation(29. 9% ),rob-ertsonian translocation(12. 5% )and inversion(11. 9% ),the smallest proportion of Y chromosome abnormality(4. 5% ). Male and female subjects were significantly thrombophilia related genes,cell factor,KIR genes,the polymorphism of HLA genes. Conclusion Abnormal karyotype of dyeing and single nucleotide polymorphism is the main cause of recurrent miscarriage. The clinical diagnosis and treatment should check with a couple of chromosome karyotype and nucleotide polymorphism,and can as-sist the amniotic fluid puncture biopsy,and embryo heritage studies,so as to realize the eugenics.%目的:研究分析夫妇染色体核型异常与复发性流产的相关性。方法抽取2010年1月至2014年1月聊城市第二人民医院收治的684对复发性流产夫妇为研究对象,对其外周血进行染色体核型分析以及核苷酸多态性分析。结果复发性流产夫妇中染色体核型异常155例,总检出率为11.3%。染色体核型异常女性88例,其染色体核型异常以平衡易位(34.4%)、罗伯逊易位(22.7%)和核苷酸多态性(29.5%)为主,其次为倒位(11.4%)和 X 染色体失活(2.3%)。男性

  3. Computed tomography and magnetic resonance imaging of acquired abnormalities of the inner ear and cerebello-pontine angle

    CT and MRI of acquired abnormalities of the inner ear and cerebello-pontine angle present themselves with very typical findings. The imaging should be adapted to the pathology looked for and either CT or MRI should be used alone or in combination.CT, especially high resolution CT (HRCT), provides an excellent bone contrast, while MRI has a much superior soft tissue contrast. Acute inflammatory changes of the inner ear are solely depicted by contrast-enhanced MRI. HRCT excellently depicts osseous changes of the inner ear and cerebellopontine angle such as chronic ossifying labyrinthitis occurring after acute labyrinthitis, otosclerotic or traumatic changes. Tumorous changes not yielding to bony changes are best delineated by MRI. Posttraumatic hemorrhage and chronic fibrotic changes within the labyrinth are depicted by MRI, only. In conclusion HRCT and MRI are excellent methods to delineate acquired abnormalities of the inner ear and cerebello-pontine angle. HRCT best depicts osseous changes while MRI best depicts soft tissue changes. HRCT and MRI are not concurrent methods but should better be used as complementary methods for imaging acquired abnormalities of inner ear and cerebellopontine angle. (orig.)

  4. 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

    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,

  5. Spectral karyotyping reveals a comprehensive karyotype in an adult acute lymphoblastic leukemia

    Da, Wan Ming; Fan, Hui; Guo, Bo; Li, Su Xia; Lu, Xue Chun; Zhu, Hong Li

    2012-01-01

    Cytogenetic abnormalities are frequently detected in patients with acute lymphoblastic leu-kemia (ALL). Comprehensive karyotype was related to poor prognosis frequently in ALL. We present a comprehensive karyotype in an adult ALL by spectral karyotyping (SKY) and R-banding. SKY not only confirmed the abnormalities previously seen by R-banding but also improved comprehensive karyotype analysis with the following result 47,XY,+9, ins(1;5)(q23;q23q34) t(6;7)(q23;p13). Our report demonstrated tha...

  6. CT and MR imaging of acquired abnormalities of the inner ear and cerebellopontine angle

    Introduction: Several entities of acquired lesions may affect the inner ear and cerebellopontine angle. The imaging of these lesions depends on the clinical history, and should be adapted to the lesion searched for and suspected by the otolaryngologist. In this paper, the modality of CT and MR imaging which is suited to delineate the acquired lesions of this region will be presented. Materials and methods: CT and/or MR imaging of the inner ear and cerebellopontine angle was performed in all cases in which an acquired lesion of this region was suspected by the otolaryngologist. CT was performed in the axial and coronal plane with the use of a high-resolution bone-window-level-setting. MRI was performed in the axial plane using high-resolution 3D T2-weighted fast spin echo sequences and 3D T1-weighted gradient echo sequences before and after the i.v. application of gadopentate dimeglumine. The obtained images were evaluated for the depiction of the acquired lesions. Results: CT best depicted osseous lesions such as traumatic affections or lesions leading to ossification of the inner ear. Tumorous lesions were delineated in those cases in which they yielded to bony changes. Inflammatory or tumorous lesions not yielding to bony changes or intralabyrintine calicifications were not depicted. MRI delineated very well all lesions leading to soft tissue changes, and moderately depicted traumatic changes yielding to less severe fractures affecting the investigated region. Conclusion: CT and MR imaging are suited differently to delineate the acquired lesions of the inner ear and cerebellopontine angle. CT is excellently suited to depict osseous lesions, while MRI is excellently suited to delineate lesions affecting the soft tissue structures. These two imaging modalities should be used depending on the clinical question, and are supposed to be complementary methods

  7. 不良孕产史孕妇羊水细胞胎儿染色体核型特点%Amniotic cell karyotyping in pregnant women with a history of abnormal pregnancy

    付杰; 马京梅; 于丽; 潘虹; 杨慧霞

    2014-01-01

    目的:探讨有不良孕产史的孕妇行胎儿染色体核型分析的临床意义。方法2005年1月4日至2013年12月31日,共1193例孕妇因不良孕产史在北京大学第一医院行羊膜腔穿刺羊水细胞胎儿染色体核型分析。根据既往不良孕产史病因,将其分为4组,分别是:生育过遗传代谢性疾病或单基因遗传性疾病患儿的孕妇273例(A组),孕育过染色体病患儿的孕妇81例(B组),夫妇一方为染色体异常携带者8例(C组),不良孕产史病因不详的孕妇833例(D组)。回顾分析这些孕妇胎儿染色体异常核型的分布特点。结果共发现胎儿染色体异常48例[4.0%(48/1193)],其中染色体多态性变异26例,染色体结构和数目异常22例,包括4例21-三体、4例性染色体异常、3例18-三体、3例额外小染色体、3例相互易位、1例罗伯逊易位、1例6号染色体臂间倒位、1例3号染色体臂间倒位、1例14-三体嵌合型、1例14号染色体结构异常。A组检出4例(1.5%)有临床意义的胎儿染色体核型异常及4例多态性变异;A组同时检出61例遗传代谢性疾病或单基因遗传性疾病胎儿及2例基因突变携带者,但均未合并染色体核型异常。B组检出2例(2.5%)胎儿染色体核型异常。C组检出2例(2/8)胎儿染色体相互易位,核型均与亲代相同。D组共检出3例21-三体、3例18-三体、2例性染色体异常、2例额外小染色体,均为高龄孕妇;还检出4例染色体结构异常及22例染色体多态性变异,夫妇均行外周血染色体检查,证实胎儿异常核型来自双亲之一。结论应根据不良孕产史的病因,选择合适的产前诊断方法。%Objective To study the clinical significance of chromosome karyotyping in pregnant women with a history of abnormal pregnancy. Methods The fetal chromosome karyotypes of 1 193 pregnant women with a history of abnormal pregnancy in Peking

  8. 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

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

    2008-01-01

    sitting height, serum levels of reproductive hormones, IGF-I, and IGFBP-3 were measured. RESULTS: In boys with 47,XXY and 47,XYY karyotypes, growth was accelerated already in childhood, compared with healthy boys. 46,XX-males were significantly shorter than healthy boys but matched the stature of healthy...... girls. In 47,XXY sitting height to height ratios were lower than expected, whereas body proportions in 46,XX-males and 47,XYY were normal. In all subjects serum levels of IGF-I and IGFBP-3 were within normal limits. The boys with 46,XX and 47,XXY karyotypes presented with low normal testosterone and...... elevated LH levels after puberty, whereas the sex hormone secretion of the 47,XYY boys remained normal. CONCLUSION: We found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX-males were shorter than controls. These abnormal growth patterns were not reflected in...

  9. Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9)t(7;9)(p15;p22)pat)

    Min Zhong; Yanling Dong; Mei Li; Hong Yao

    2014-01-01

    Infantile spasm (IS) is an epilepsy syndrome affecting infants and young toddlers and many causes have been reported, including occasional chromosomal abnormalities. We describe a 6-month-oldboy who experienced his first seizure at 5 months of age. The seizures were characterized by brief head nods and forceful flexion of the trunk and limbs. The patient has been developmentally delayed since birth and had deteriorated remarkably in the last month. Interictal electroencephalography showed mod...

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

    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.

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

    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. PMID:24455103

  12. Karyotype and identification of sex in two endangered crane species

    Goodpasture, C.; Seluja, G.; Gee, G.

    1992-01-01

    A laboratory procedure for sex identification of monomorphic birds was developed using modern cytological methods of detecting chromosome abnormalities in human amniotic fluid samples. A pin feather is taken from a pre-fledging bird for tissue culture and karyotype analysis. Through this method, the sex was identified and the karyotype described of the whooping crane (Grus americana) and the Mississippi sandhill crane (G. canadensis pulla). Giemsa-stained karyotypes of these species showed an identical chromosome constitution with 2n = 78 + 2. However, differences in the amount of centromeric heterochromatin were observed in the Mississippi sandhill crane when compared to the whooping crane C-banded karyotype.

  13. Spectral karyotyping (SKY) in hematological neoplasia

    Preiss, Birgitte S.; Pedersen, Rikke K.; Kerndrup, Gitte B.

    2001-07-01

    From November 1, 1997 till November 1, 2000 we have investigated 204 cases of acute myeloid leukemia (AML) (nequals95), acute lymphatic leukemia (ALL) (nequals40), myelodysplastic syndrome (MDS) (nequals11), chronic myeloid leukemia (CML) (nequals9), chronic lymphatic leukemia (CLL) (nequals4) and non-Hodgkin lymphoma (NHL) (nequals45) cytogenetically, using G-band analysis and spectral karyotyping (SKY). By SKY we were able to detect the abnormal clones in all cases but 9. In the G-band preparations these cases showed very few abnormal mitoses. The SKY either extended or confirmed the G-band findings in 94% of those with an abnormal karyotype. Cryptic translocations (translocations not suspected from the G-band karyotype) were found in 71 cases (26 AML, 9 ALL, 5 MDS, 2 CLL and 29 NHL). We find SKY a powerful adjuvant diagnostic tool that does not compromise one of the advantages of karyotyping techniques, the analysis of the entire genome which, in contrast to molecular biological techniques, still leave the possibility to get mroe answers than questions posed.

  14. Congenital heart disease and chromossomopathies detected by the karyotype

    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. Comparative genomic hybridization on microarray (a-CGH in constitutional and acquired mosaicism may detect as low as 8% abnormal cells

    Pasquali Francesco

    2011-05-01

    Full Text Available Abstract Background The results of cytogenetic investigations on unbalanced chromosome anomalies, both constitutional and acquired, were largely improved by comparative genomic hybridization on microarray (a-CGH, but in mosaicism the ability of a-CGH to reliably detect imbalances is not yet well established. This problem of sensitivity is even more relevant in acquired mosaicism in neoplastic diseases, where cells carrying acquired imbalances coexist with normal cells, in particular when the proportion of abnormal cells may be low. We constructed a synthetic mosaicism by mixing the DNA of three patients carrying altogether seven chromosome imbalances with normal sex-matched DNA. Dilutions were prepared mimicking 5%, 6%, 7%, 8%, 10% and 15% levels of mosaicism. Oligomer-based a-CGH (244 K whole-genome system was applied on the patients' DNA and customized slides designed around the regions of imbalance were used for the synthetic mosaics. Results and conclusions The a-CGH on the synthetic mosaics proved to be able to detect as low as 8% abnormal cells in the tissue examined. Although in our experiment some regions of imbalances escaped to be revealed at this level, and were detected only at 10-15% level, it should be remarked that these ones were the smallest analyzed, and that the imbalances recurrent as clonal anomalies in cancer and leukaemia are similar in size to those revealed at 8% level.

  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

    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. Congenital heart disease and chromossomopathies detected by the karyotype

    Patrícia Trevisan; Rafael Fabiano M. Rosa; Dayane Bohn Koshiyama; Tatiana Diehl Zen; Giorgio Adriano Paskulin; Paulo Ricardo G Zen

    2014-01-01

    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 les...

  18. Karyotype complexity and prognosis in acute myeloid leukemia

    Stölzel, F.; Mohr, B.; Kramer, M.; Oelschlägel, U; Bochtler, T; Berdel, W E; Kaufmann, M; Baldus, C D; Schäfer-Eckart, K; R. Stuhlmann; Einsele, H; Krause, S W; Serve, H; Hänel, M.; Herbst, R.

    2016-01-01

    A complex aberrant karyotype consisting of multiple unrelated cytogenetic abnormalities is associated with poor prognosis in patients with acute myeloid leukemia (AML). The European Leukemia Net classification and the UK Medical Research Council recommendation provide prognostic categories that differ in the definition of unbalanced aberrations as well as the number of single aberrations. The aim of this study on 3526 AML patients was to redefine and validate a cutoff for karyotype complexity...

  19. The Application of Spectral Karyotyping in Leukemia

    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.

  20. Computed tomography and magnetic resonance imaging of acquired abnormalities of the inner ear and cerebello-pontine angle; CT und MRT erworbener Veraenderungen des Innenohrs und Kleinhirnbrueckenwinkels

    Grampp, S.; Czerny, C.; Henk, C.B.; Imhof, H. [Abteilung fuer Osteologie, Univ.-Klinik fuer Radiodiagnostik, Wien (Austria); Gstoettner, W. [Univ.-Klinik fuer Hals-Nasen-Ohren-Heilkunde, Frankfurt/Main (Germany)

    2003-03-01

    CT and MRI of acquired abnormalities of the inner ear and cerebello-pontine angle present themselves with very typical findings. The imaging should be adapted to the pathology looked for and either CT or MRI should be used alone or in combination.CT, especially high resolution CT (HRCT), provides an excellent bone contrast, while MRI has a much superior soft tissue contrast. Acute inflammatory changes of the inner ear are solely depicted by contrast-enhanced MRI. HRCT excellently depicts osseous changes of the inner ear and cerebellopontine angle such as chronic ossifying labyrinthitis occurring after acute labyrinthitis, otosclerotic or traumatic changes. Tumorous changes not yielding to bony changes are best delineated by MRI. Posttraumatic hemorrhage and chronic fibrotic changes within the labyrinth are depicted by MRI, only. In conclusion HRCT and MRI are excellent methods to delineate acquired abnormalities of the inner ear and cerebello-pontine angle. HRCT best depicts osseous changes while MRI best depicts soft tissue changes. HRCT and MRI are not concurrent methods but should better be used as complementary methods for imaging acquired abnormalities of inner ear and cerebellopontine angle. (orig.) [German] Bei erworbenen Veraenderungen des Innenohrs und der Kleinhirnbrueckenwinkelregion zeigen CT und MRT typische Bildcharakteristika, wobei die Bildgebung der zu suchenden Veraenderung angepasst werden sollte. Die CT liefert hochaufloesend (HRCT) einen exzellenten Knochen-, die MRT einen hervorragenden Weichteilkontrast. Akute entzuendliche Veraenderungen sind in der HRCT nicht erkennbar, sondern nur in der kontrastmittelverstaerkten MRT. Die HRCT erfasst am besten knoecherne Veraenderungen wie Ossifikationen des membranoesen Labyrinths im Rahmen einer chronischen Entzuendung, otosklerotische und traumatische Veraenderungen - selbst wenn diese nur diskret sind. Tumoroese Veraenderungen, die zu keiner ossaeren Veraenderung fuehren wie kleine Schwannome sowie

  1. Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in Diagnosing Mixed Gonadal Dysgenesis

    Takahashi, Ikuko; Miyamoto, Junko; Hasegawa, Yukihiro

    2006-01-01

    Mixed gonadal dysgenesis (MGD) is an abnormal sexual differentiation syndrome usually presenting with ambiguous genitalia. Karyotype analysis is one of the essential components in the diagnosis of MGD and is conventionally done with peripheral lymphocytes by the G-banding technique. It is speculated that this conventional karyotype analysis has limitations since there are often difference in gonadal tissue analysis. Here we present four cases of MGD, in which karyotype analysis were performed...

  2. 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

    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

  3. Clinical utility of skin karyotype

    Luiza E. Dorfman; Agnes F. R. P. Silva; Giorgio A. Paskulin; Rafael F. M. Rosa; Paulo R. G. Zen

    2015-01-01

    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 ...

  4. 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

    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,

  5. 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

    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

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

    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

  7. Karyotype analysis in haploid sugarbeet

    Cistué Sola, Luis; Romagosa, Ignacio; TSUCHIYA, T; Lasa Dolhagaray, José Manuel

    1985-01-01

    The objective of this study was to develop a standard metaphase karyotype for somatic cells using haploid plants. This karyotype would identify the individual sugarbeet chromosornes, more on the basis of the cornbination of the relative size and centrorneric position than on statistical techniques. A positive identification of individual chrornosornes would have considerable value for future cytological and cytogenetic studies in sugarbeet.

  8. Clinical utility of skin karyotype

    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.

  9. Karyotypic analysis of intersexuality in Chinese from Taiyuan

    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.

  10. Predicting fetal karyotype in fetuses with omphalocele: the current role of ultrasound

    Zork, Noelia M; Pierce, Sara; Zollinger, Terrell; Kominiarek, Michelle A

    2016-01-01

    Objective To assess the ability of ultrasound in predicting abnormal karyotype in pregnancies with prenatally diagnosed omphaloceles and to compare its test characteristics to previously published studies. Methods A retrospective case-control study of omphaloceles diagnosed at one center was performed from 1995–2007. Cases were those with an abnormal karyotype and controls were those with a normal karyotype. Data collection included demographics, karyotype results, and ultrasound findings. The number and type of associated anomalies were compared between the cases and controls. The sensitivity, specificity, positive predictive value, and negative predictive value for predicting an abnormal karyotype were calculated from previously published studies. Results Of the 73 subjects, there were 12 cases and 61 controls. The majority of women were Caucasian and primigravida. The cases were less likely to have an isolated omphalocele [1(8.3%) vs. 27(42.6%), OR 0.122 95% CI 0.02–0.08] but were more likely to have two or more major anomalies [8 (66.7%) vs. 17(27.9%), OR 5.18 95% CI 1.19–24.04)] compared to the controls. Cardiac anomalies and only one additional major anomaly were not different between the two groups, P>0.05. The test characteristics for this study were similar to previously published studies. Conclusions Isolated omphaloceles were more likely to have a normal karyotype; however fetuses with multiple anomalies were more likely to have an abnormal karyotype. Despite advances in ultrasound technology, its ability for predicting an abnormal karyotype in these fetuses has not improved. PMID:24815707

  11. Karyotype Analysis in Hexaploid Triticale

    Tosun, Metin

    1998-01-01

    In this study, morphology of chromosomes was determined via karyotype and idiogram analysis in Nutria 7272 line of hexaploid (2n=42) triticale obtained from CIMMYT. On the bases of the presence or absence of satellites and the arm ratio, the chromosome complement was divided into four groups; satellited, median, submedian and subterminal chromosomes. Of the 42 chromosomes present in Nutria 7272 karyotype, 4 were satellited, 14 median, 18 submedian and 6 subterminal. The chromosome length and ...

  12. Analysis of karyotype diversity of 40 Chinese chrysanthemum cultivars

    Yuan ZHANG; Ming-Li ZHU; Si-Lan DAI

    2013-01-01

    To investigate the genetic differences in Chinese large-flowered chrysanthemum (Chrysanthemum×morifolium Ramat.) cultivars,we selected 40 typical and stable cultivars on which to carry out cytological studies using karyotype analysis.The results showed that 67.5% of these cultivars were hexaploid-based aneuploid and that the proportion of hexaploid decreased with passing time.Moreover,35% of the cultivars had 1-4 satellite chromosome(s).The probability of satellite chromosomes rose with increasing chromosome number.Most of the karyotypes were 2A and 2B.The probability of types 2A and 2C also increased with increasing ploidy of the cultivars.The mean of long-/short-arm ratio and the variation of long-/short-ann ratio were positively correlated (r2 =0.72).There was no obvious difference in the asymmetry coefficient of karyotypes,but the discrepancy in the variance of karyotype asymmetry index and relative length of chromosomes was quite distinct.In terms ofkaryotype parameters,the petal types of chrysanthemums were classified to five groups as flat,tubular,spoon,abnormal,and anemone.We did not observe any obvious orderliness among flower head types.Considering the relationship between karyotype parameters and phenotypic characters,variation of long-/short-arm ratio and asymmetry coefficient ofkaryotypes had the greatest relevance toward most phenotypic characters.The above results indicate that karyotype parameters possess great values for cultivar identification,classification,and genetic analysis in chrysanthemums.

  13. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH SPERM DISORDERS

    L. Y. Pylyp; L. A. Spinenko; V. D. Zukin; N. M. Bilko

    2013-01-01

    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 intrac...

  14. KARYOTYPE STUDY IN PATIENTS WITH HEARING DISABILITY

    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

  15. The prevalence of chromosomal abnormalities in subgroups of infertile men

    Dul, E. C.; Groen, H.; van Ravenswaaij-Arts, C. M. A.; Dijkhuizen, T.; van Echten-Arends, J.; Land, J. A.

    2012-01-01

    BACKGROUND: The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although guidelines advise karyotyping infertile men, karyotyping is costly, therefore it would be of benefit to identify men with the highest risk of c

  16. Is it important to decipher the heterogeneity of “normal karyotype AML”?

    Nimer, Stephen D.

    2008-01-01

    Almost half of adult acute myelogenous leukemia (AML) is normal cytogenetically, and this subgroup shows a remarkable heterogeneity of genetic mutations at the molecular level and an intermediate response to therapy. The finding of recurrent cytogenetic abnormalities has influenced, in a primary way, the understanding and treatment of leukemias. Yet “normal karyotype AML” lacks such obvious abnormalities, but has a variety of prognostically important genetic abnormalities. Thus, the presence ...

  17. Evolutionary dynamics of mammalian karyotypes

    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....

  18. Text Mining and Data Modeling of Karyotypes to aid in Drug Repurposing Efforts

    Abrams, Zachary B.; Peabody, Andrea L.; Heerema, Nyla A.; Payne, Philip R. O.

    2016-01-01

    Karyotyping, or visually examining and recording chromosomal abnormalities, is commonly used to diagnose and treat disease. Karyotypes are written in the International System for Human Cytogenetic Nomenclature (ISCN), a computationally non-readable language that precludes full analysis of these genomic data. In response, we developed a cytogenetic platform that transfers the ISCN karyotypes to a machine-readable model available for computational analysis. Here we use cytogenetic data from the National Cancer Institute (NCI)-curated Mitelman database1 to create a structured karyotype language. Then, drug-gene-disease triplets are generated via a computational pipeline connecting public drug-gene interaction data sources to identify potential drug repurposing opportunities. PMID:26262336

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

    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.

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

    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

  1. Electrophoretic karyotype for Dictyostelium discoideum.

    Cox, E. C.; Vocke, C. D.; Walter, S; Gregg, K Y; Bain, E S

    1990-01-01

    This paper reports on the separation of the Dictyostelium discoideum chromosomes by pulse-field electrophoresis and the correlation of the electrophoretic pattern with linkage groups established by classical genetic methods. In two commonly used laboratory strains, five chromosome-sized DNA molecules have been identified. Although the majority of the molecular probes used in this study can be unambiguously assigned to established linkage groups, the electrophoretic karyotype differs between t...

  2. Karyotypic findings in chronic myeloid leukemia cases undergoing treatment

    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.

  3. Frequencies of fetal chromosomal abnormalities at prenatal diagnosis: 10 years experiences in a single institution.

    Park, S. Y.; J.W. Kim; Y.M. Kim; Kim, J.M.; Lee, M. H.; Lee, B. Y.; Han, J. Y.; Kim, M. Y.; Yang, J. H.; Ryu, H. M.

    2001-01-01

    We present frequencies of fetal chromosomal abnormalities in 4,907 prenatal cytogenetic examinations at Samsung Cheil Hospital from 1988 to 1997 for 10 yr duration. Prenatal karyotypes were undertaken in 3,913 amniotic fluid samples, 800 chorionic villi samples, and 194 percutaneous umbilical blood samples. The frequency of fetal abnormal karyotypes was 3.1% (150 cases). Numerical chromosome abnormalities were 87 cases (1.8%) and structural aberrations of chromosomes were 63 cases (1.3%). In ...

  4. Karyotype Analysis Activity: A Constructivist Learning Design

    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…

  5. DNA-based human karyotype

    Mayall, B.H.; Carrano, A.V.; Moore, C.H. II; Ashworth, L.K.; Bennett, D.E.; Mendelsohn, M.L.

    1984-01-01

    Image cytometry and computer analysis are used to determine the relative DNA content and the DNA-based centromeric index of the 24 chromosomes of the human karyotype. A two-step procedure is used. Chromosomes of cells in metaphase first are stained with quinacrine and identified visually by their fluorescent Q-band patterns. They then are stained for DNA using gallocyanin-chrome alum. The chromosome images are scanned and recorded as digital values of optical density by an CYDAC image cytometric microscope system, CYDAC. The digital images are processed by computer to measure for each chromosome the relative DNA stain contents of the whole chromosome and of the p and q arms and the DNA-based centromeric index. About ten cells are analyzed for each of the donors, who are phenotypically normal men and women. The chromosome measurements are pooled by chromosome type for each donor and are compared among donors. The means of the chromosome measurements give the DNA-based human karyotype. Analysis of the DNA-based data shows that some chromosomes or portions of chromosomes vary significantly among donors. These variants do not correlate with detectable morphologic polymorphisms, such as Q- or C-band variants; thus they represent new and otherwise undetectable chromosome polymorphisms whose genetic basis and clinical significance are yet to be determined. 54 references, 1 figure, 3 tables.

  6. Karyotyping

    ... to a genetic syndrome or condition, such as: Down syndrome Klinefelter syndrome Philadelphia chromosome Trisomy 18 Turner syndrome This list is not all-inclusive. Chemotherapy may cause chromosome breaks that affect normal karotyping results.

  7. 108例发育异常患儿染色体核型分析%Analysis of chromosome karyotypes of 108 dysplastic patient

    田艳; 王厚照; 刘芳; 史彩虹

    2013-01-01

    Objective:To analyze the relationship between abnormal karyotypes and abnormal fertility.Methods:To research peripheral blood lymphocytes of 108 dysplastic patients who is younger than 18,and the abnormal karyotype were analyzed.Results:There were 26 cases of abnormal karyotypes in 108 patients with genetic counseling and the abnormal rate is 24.1%.In chromosomal abnormal karyotypes,there were 9 cases of sex chromosome abnormalities,accounting for 8.3% ; and there were 17 cases of euchromosome abnormalities,accounting for 15.7%.And there were 82 cases of dysplasia who had normal chromosome karyotypes,accounting for 75.9%.Conclutions:Abnormal karyotype is closely related to dysplasia,karyotype analysis is conducive to clinical diagnosis,but also provide the basis for genetic counseling.%目的 分析发育异常与染色体异常的关系.方法 检测厦门地区108例发育异常患儿(≤18岁)的外周血淋巴细胞核型.结果 108例发育异常患者中检出异常核型26例,占患者总数的24.1%:其中性染色体异常有9例占患者总数的8.3%,常染色体异常有17例占15.7%,另外还检出82例核型正常但发育不全者,占75.9%.结论 染色体异常是导致发育异常的重要原因之一,对患者进行染色体检查为其寻找病因提供依据.

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

    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

  9. Neurofibromatosis, Down's syndrome, and acquired abnormalities.

    Ali, Syed Yousuf; Manne, Vimala; Manne, Ranjit; Himani, Chennamaneni

    2016-01-01

    We report a patient with Down's syndrome and neurofibromatosis who presented with a keloid, sebaceous cyst and acanthosis nigricans, along with dental and ophthalmological defects. The coexistence of neurofibromatosis type 1 and Down's syndrome which are two unrelated genetic conditions is itself a rarity. PMID:27294059

  10. Neurofibromatosis, Down's syndrome, and acquired abnormalities

    Syed Yousuf Ali

    2016-01-01

    Full Text Available We report a patient with Down's syndrome and neurofibromatosis who presented with a keloid, sebaceous cyst and acanthosis nigricans, along with dental and ophthalmological defects. The coexistence of neurofibromatosis type 1 and Down's syndrome which are two unrelated genetic conditions is itself a rarity.

  11. Neurofibromatosis, Down's syndrome, and acquired abnormalities

    Ali, Syed Yousuf; Manne, Vimala; Manne, Ranjit; Himani, Chennamaneni

    2016-01-01

    We report a patient with Down's syndrome and neurofibromatosis who presented with a keloid, sebaceous cyst and acanthosis nigricans, along with dental and ophthalmological defects. The coexistence of neurofibromatosis type 1 and Down's syndrome which are two unrelated genetic conditions is itself a rarity. PMID:27294059

  12. Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

    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.

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

    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

  14. Karyotype analysis of four nemertean species

    CHEN Haixia; LIU Keke; SUN Shichun

    2009-01-01

    We performed a karyotype analysis on four species from Phylum Nemertea using regenerating somatic cells. Two palaeonemertean species, Cephalothrix hongkongiensis and Cephalothrix sp., had the same chromosome number (2n=28), but different karyotypes (16 m+10 sm+2 st, NF=54 and 22 m+4 sm+2 st, NF=54, respectively). The karyotypes of the two heteronemerteans, Notospermus geniculatus and Ramphogordius sanguineus were 2n=38, 30 m+6 sm+2 sm/st (NF=76/74) and 2n=56, 48 m+4 sm+4 sm/st (NF=112/108), respectively.

  15. [Prenatal diagnosis of five cases of monochorionic-diamniotic twins discordant for karyotype analysis].

    Wu, Jianzhu; Zhou, Yi; Lin, Shaobin; Chen, Baojiang; Xie, Yingjun

    2015-10-01

    OBJECTIVE To explore the mechanism and diagnostic method for monochorionic-diamniotic twins discordant for karyotype analysis. METHODS Dual amniocentesis was performed on five pairs of monochorionic-diamniotic twins, which all consisted of a normal twin and one with multiple malformations revealed by ultrasound. Karyotype analysis was performed on amniocytes derived from each of the twins. Zygosity was also determined with DNA extracted from amniocytes with 16 polymorphic microsatellite markers. RESULTS Three cases of 45,X, one case of 47,XX,+9 and one case of 47,XY,+18 were detected among the abnormal twins, while the normal fetuses all had a normal karyotype. DNA analysis suggested that, in all cases, the twins have shared the 16 polymorphic microsatellite markers, which confirmed their monozygosity. CONCLUSION Monochorionic-diamniotic twins may be discordant for karyotyping, for which anaphase lagging, chromosomal non-disjunction and trisomy rescue may be the underlying reasons. As a simple method, dual amniocentesis can be used to obtain amniotic fluid samples for karyotype analysis and determination of zygosity for such twins. PMID:26418994

  16. Bio-metric study of pig karyotype

    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)

  17. Craniofacial morphology in Turner syndrome karyotypes

    Bajraktarova Miševska, Cvetanka; Kočova, Mirjana; Kanurkova, Lidija; Curcieva, Cuckova, Gabriela; Bajraktarova, Bona; Maneva, Marija; Valjakova, Emilija

    2015-01-01

    ABSTRACT Introduction: A complete or partial absence of an X chromosome in the karyotype of phenotypic females has an impact on craniofacial morphology. The aim of this study was to determine the characteristics of the craniofacial complex in patients with Turner syndrome (TS), and to evaluate the influence of various karyotypes on craniofacial morphology. Material and methods: The study population was comprised of 40 TS female patients, aged 9.2 to 18 years, and 40 healthy females, age...

  18. Retrospective karyotype study in mentally retarded patients

    Wellcy Gonçalves Teixeira; Fabiana Kalina Marques; Maíra Cristina Menezes Freire

    2016-01-01

    SUMMARY Objective: To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. Method: A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. Results: 338 (91.6%) normal cases, and 31 (8.4%) wi...

  19. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    Daniela Mierla

    2012-06-01

    Full Text Available Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, karyotype analysis by G-banding was performed from peripheral blood in 967 women infertility. Results: Chromosomal abnormalities were found to 79 women (8,17%. The percentage of chromosomal abnormalities in the studied population correlates with the data in the literature. Chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions.

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

    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.

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

    Sarah Ramamurthy; Parkash Chand; Latha Chaturvedula; K Ramachandra Rao

    2013-01-01

    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. Result...

  2. Male infertility related to an aberrant karyotype, 47,XYY: four case reports

    El-Dahtory, Faeza; Hany M. Elsheikha

    2009-01-01

    Background 47,XYY syndrome is a sex chromosomal abnormality observed in humans, with a prevalence of 0.1% of male births. Sex chromosome anomalies are more frequently associated with male infertility. Case report We present here four cases of infertile men with azoospermia or severe oligozoospermia attending a genetic and fertility clinic. Chromosomal analysis of the peripheral blood lymphocytes demonstrated the constitutional karyotype of 47, XYY. Using fluorescence in situ hybridization (FI...

  3. Bone Marrow and Karyotype Findings of Patients with Pancytopenia in Southern Iran

    Akbar Safaei; Mansoureh Shokripour; Navid Omidifar

    2014-01-01

    Background: Pancytopenia is a manifestation of a wide range of disorders. The main prognostic factor for predicting outcome and response to treatment is based on the underlying cause. To detect the root cause of this problem, depending on other accompanied signs or symptoms, the need for bone marrow examination and other advanced work ups is different at least at the practical level. This study focuses on the karyotype abnormality and to demonstrate the ability of this complimentary study in ...

  4. Acquired cystic disease-associated renal cell carcinoma with gain of chromosomes 3, 7, and 16, gain of chromosome X, and loss of chromosome Y.

    Kuroda, Naoto; Shiotsu, Tomoyuki; Hes, Ondrej; Michal, Michal; Shuin, Taro; Lee, Gang-Hong

    2010-12-01

    Acquired cystic disease (ACD)-associated renal cell carcinoma (RCC) has been recently described. To date, there are no reports on genetic findings of G-band karyotype of ACD-associated RCC. In this article, we report the first report of G-band karyotype of ACD-associated RCC. A 66-year-old Japanese man was found to have a left renal tumor during the follow-up of hemodialysis consequent to chronic renal failure. Left nephrectomy was performed. Histological examination of three tumors in the left kidney showed the cribriform or microcystic growth pattern of neoplastic cells with eosinophilic cytoplasm, and many oxalate crystals were observed. The G-band karyotype of ACD-associated RCC showed 49, X, +X, -Y, +3, +7, +16. These chromosomal abnormalities resemble those of sporadic papillary RCC that has been previously reported. Finally, we suggest that this tumor may show a close relationship between ACD-associated RCC and papillary RCC, but a large-scale study will be needed to clarify the relationship between ACD-associated RCC and papillary RCC. PMID:21267700

  5. A novel karyotype in acute myeloid leukemia with basophilia.

    Servitzoglou, Marina; Grenzelia, Maria; Baka, Margarita; Harisi, Marietta; Pourtsidis, Apostolos; Bouhoutsou, Despina; Varvoutsi, Maria; Doganis, Dimitrios; Dana, Helen; Divane, Aspasia; Kosmidis, Helen

    2014-03-01

    Acute basophilic leukemia is a distinct entity of Acute Myeloid Leukemia (AML) with primary differentiation to basophils. Increased basophil count has been described in AML cases with translocation t(6;9)(p23;q34) or other chromosomal abnormalities. We describe a 15-year old female teenager with AML and excess peripheral blood and bone marrow basophils. Her white blood cell count at diagnosis was 15.4 G/L with 53% basophils and 17% blasts. The bone marrow cytogenetics analysis did not reveal any of the usual abnormalities. The karyotype showed two closely related leukemic clones: the first (16 metaphases), with a total of 48 chromosomes, had an extra chromosome 8 with deletion of the long arm and an additional 21 (48,XX, +del(8)(q24.2q24.3), t21[16]), while the second clone (2 metaphases), with a total of 47 chromosomes, did not contain the extra 21 chromosome (47, sl, -21[2]). In summary, in this case of AML-M2 with excess basophils, there is a novel chromosomal abnormality, not previously reported in this entity. PMID:24552500

  6. Karyotypes of Saccharomyces sensu lato species

    Petersen, Randi Føns; Nilsson-Tilgren, Torsten; Piskur, Jure

    1999-01-01

    Saccharomyces unisporus, 16 in Saccharomyces exiguus and seven in Saccharomyces kluyveri. The sizes of individual chromosomes were resolved and the approximate genome sizes were determined by the addition of individual chromosomes of the karyotypes. Apparently. the genome of S. exiguus, which is the only...... Saccharomyces sensu late yeast to contain small chromosomes, is larger than that of Saccharomyces cerevisiae. On the other hand, other species exhibited genome sizes that were 10-25% smaller than that of S. cerevisiae. Well-defined karyotypes represent the basis for future genome mapping and sequencing projects...

  7. Karyotypic and fluorescent in-situ hybridization study of the centromere of chromosome 7 in secondary myeloid neoplasms

    Roberta Sandra da Silva Tanizawa

    2011-12-01

    Full Text Available BACKGROUND: Secondary myeloid neoplasms comprise a group of secondary diseases following exposure to myelotoxic agents or due to congenital diseases. The improvement of anticancer agents and immunosuppressive drugs seem to be associated with an increased incidence of secondary myeloid neoplasms. Karyotyping of bone marrow is essential for diagnosis and prognosis. Previous use of alkylating agents and radiation are associated with clonal abnormalities such as recurrent unbalanced -5/5q-, -7/7q- and complex karyotypes, whereas topoisomerase-II inhibitors lead to changes such as the balanced 11q23 rearrangement, t(8;21, t(15;17 and inv(16. OBJECTIVE: To study the clinical and cytogenetic data of patients with secondary myeloid neoplasms who took antineoplastic and/or immunosuppressive drugs or progressed from aplastic anemia. METHODS: The clinical and cytogenetic characteristics of 42 patients diagnosed with secondary myeloid neoplasms in one institution were retrospectively evaluated. Of these, 25, 11 and 6 patients had had oncological diseases, aplastic anemia and other diseases, respectively. Conventional cytogenetic and FISH analyses were performed for monosomy 7. RESULTS: The cytogenetic study was conclusive in 32 cases with 84.4% of clonal abnormalities. Monosomy 7 and complex karyotypes were present in 44.4% and 37%, respectively. A high prevalence of unbalanced abnormalities (96.3% was observed. Monosomy 7 was more prevalent in patients with myelodysplastic syndromes/myeloid neoplasms after aplastic anemia (66.6%. The median survival after diagnosis of myeloid neoplasms was only 5.7 months. Normal cytogenetics was associated to better survival (p-value = 0.03. There was a slightly worse trend of survival for patients with complex karyotypes (p-value = 0.057. Abnormal karyotype was an independent risk factor for poor survival (p-value = 0.012. CONCLUSION: This study enhances the importance of cytogenetic analysis of patients at the time of

  8. Acquired Techniques

    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...

  9. Acquired blepharoptosis

    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

  10. Who should be screened for chromosomal abnormalities before ICSI treatment?

    Dul, E. C.; van Ravenswaaij-Arts, C. M. A.; Groen, H.; van Echten-Arends, J.; Land, J. A.

    2010-01-01

    Guidelines on karyotyping infertile men before ICSI treatment are not consistent. Most guidelines recommend chromosomal screening in azoospermic and severe oligozoospermic men, because they are assumed to have the highest risk of abnormalities. We performed a retrospective cohort study in azoospermi

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

    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....

  12. Acquired von Willebrand Syndrome

    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.

  13. An electrophoretic karyotype of Neurospora crassa.

    Orbach, M J; Vollrath, D; Davis, R W; Yanofsky, C.

    1988-01-01

    A molecular karyotype of Neurospora crassa was obtained by using an alternating-field gel electrophoresis system which employs contour-clamped homogeneous electric fields. The migration of all seven N. crassa chromosomal DNAs was defined, and five of the seven molecules were separated from one another. The estimated sizes of these molecules, based on their migration relative to Schizosaccharomyces pombe chromosomal DNA molecules, are 4 to 12.6 megabases. The seven linkage groups were correlat...

  14. Multicolor spectral karyotyping of human chromosomes.

    Schröck, E; du Manoir, S; Veldman, T; Schoell, B; Wienberg, J; Ferguson-Smith, M A; Ning, Y; Ledbetter, D H; Bar-Am, I; Soenksen, D; Garini, Y; Ried, T

    1996-07-26

    The simultaneous and unequivocal discernment of all human chromosomes in different colors would be of significant clinical and biologic importance. Whole-genome scanning by spectral karyotyping allowed instantaneous visualization of defined emission spectra for each human chromosome after fluorescence in situ hybridization. By means of computer separation (classification) of spectra, spectrally overlapping chromosome-specific DNA probes could be resolved, and all human chromosomes were simultaneously identified. PMID:8662537

  15. Obstetric Outcomes in Women with Turner Karyotype.

    Hagman, Arne; Källén, Karin; Barrenäs, M-L; Landin-Wilhelmsen, K; Hanson, C.; Bryman, I; Wennerholm, U-B

    2011-01-01

    Context: Women with Turner syndrome (TS) have high risk of cardiovascular complications and hypertensive disorders. Few studies have analyzed obstetric outcome in women with TS. Objective: This study compared obstetric outcome in women with TS karyotype with women in the general population. Design: The Swedish Genetic Turner Register was cross-linked with the Swedish Medical Birth Register between 1973 and 2007. Obstetric outcome in singletons was compared with a reference group of 56,000 wom...

  16. Karyotype Analysis in Chalcalburnus mossulensis (Heckel, 1843)

    GÜL, Süleyman

    2000-01-01

    Karyotype analysis was performed in Chalcalburnus mossulensis (Heckel, 1843) belonging to the carp family by investigating the number and structures of their chromosomes. The fish used in this study were caught with fishing nets from Kizilirmak river and taken to the laboratory. They received an abdominal injection of 0.6 mg colchicine (Colchicum Dispert) dissolved in 1 ml of distilled water per 1 g body weight. As a result of the C-metaphase investigation, it was determined that C. moss...

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

    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.

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

    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

  19. Karyotypic characterization of Capsicum sp. accessions

    Willame Rodrigues do Nascimento Souza

    2015-05-01

    Full Text Available 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 the squash method and Giemsa staining. The chromosome number 2n=2x=24 was verified for each of the four species. Chromosomal polymorphisms were observed for the C. frutencens accession BGC 37, which presented 12 pairs of metacentric chromosomes instead of 11 pairs of metacentric chromosomes and 1 submetacentric chromosome pair present in other accessions. In the accessions BGC 01 and BGC 37, secondary constrictions were observed in the 1 and 12 as well as in the 6 and 11 homologs, respectively. The karyotypes of the studied species were asymmetrical among themselves. The results obtained in this study confirm the high genetic diversity previously described in the literature for this genus.

  20. Noninvasive prenatal molecular karyotyping from maternal plasma.

    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.

  1. Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma

    Yu, Stephanie C. Y.; Jiang, Peiyong; Choy, Kwong W.; Chan, Kwan Chee Allen; Won, Hye-Sung; Leung, Wing C.; Lau, Elizabeth T.; Tang, Mary H. Y.; Leung, Tak Y.; Lo, Yuk Ming Dennis; Chiu, Rossa W. K.

    2013-01-01

    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. PMID:23613765

  2. Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

    Gouas, L; Goumy, C; Véronèse, L; Tchirkov, A; Vago, P

    2008-09-01

    Cytogenetics is the part of genetics that deals with chromosomes, particularly with numerical and structural chromosome abnormalities, and their implications in congenital or acquired genetic disorders. Standard karyotyping, successfully used for the last 50 years in investigating the chromosome etiology in patients with infertility, fetal abnormalities and congenital disorders, is constrained by the limits of microscopic resolution and is not suited for the detection of subtle chromosome abnormalities. The ability to detect submicroscopic chromosomal rearrangements that lead to copy-number changes has escalated progressively in recent years with the advent of molecular cytogenetic techniques. Here, we review various gene dosage methods such as FISH, PCR-based approaches (MLPA, QF-PCR, QMPSF and real time PCR), CGH and array-CGH, that can be used for the identification and delineation of copy-number changes for diagnostic purposes. Besides comparing their relative strength and weakness, we will discuss the impact that these detection methods have on our understanding of copy number variations in the human genome and their implications in genetic counseling. PMID:18513889

  3. 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

    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.

  4. Identifying the similarities and differences between single nucleotide polymorphism array (SNPa analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

    Thiago Rodrigo de Noronha

    2015-02-01

    Full Text Available Objective: To standardize the single nucleotide polymorphism array (SNPa method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differ- ences between the results of this method and karyotyping. Methods: Twenty-two patients diagnosed with acute myeloid leukemia and three with myelodysplastic syndromes were studied. The G-banding karyotyping and single nucleotide polymorphism array analysis (CytoScan(r HD were performed using cells from bone marrow, DNA extracted from mononuclear cells from bone marrow and buccal cells (BC. Results: The mean age of the patients studied was 54 years old, and the median age was 55 years (range: 28-93. Twelve (48% were male and 13 (52% female. Ten patients showed abnormal karyotypes (40.0%, 11 normal (44.0% and four had no mitosis (16.0%. Regarding the results of bone marrow single nucleotide polymorphism array analysis: 17 were abnor- mal (68.0% and eight were normal (32.0%. Comparing the two methods, karyotyping identified a total of 17 alterations (8 deletions/losses, 7 trissomies/gains, and 2 translocations and single nucleotide polymorphism array analysis identified a total of 42 alterations (17 losses, 16 gains and 9 copy-neutral loss of heterozygosity. Conclusion: It is possible to standardize single nucleotide polymorphism array analysis in acute myeloid leukemia/myelodysplastic syndromes and compare the results with the abnormalities detected by karyotyping. Single nucleotide polymorphism array analysis increased the detection rate of abnormalities compared to karyotyping and also identified a new set of abnormalities that deserve further investigation in future studies.

  5. Main trends of karyotype evolution in the superfamily Chalcidoidea (Hymenoptera)

    Vladimir Gokhman; Alex Gumovsky

    2009-01-01

    An overview of karyotype evolution in the superfamily Chalcidoidea is given. Structural types of chromosome sets in the superfamily are listed. Main pathways of karyotypic change in the Chalcidoidea are outlined. The chromosome set containing eleven subtelo- or acrocentrics is considered as an ancestral karyotype for the superfamily. Multiple independent reductions in n values through chromosomal fusions presumably occurred in various groups of chalcid families.

  6. Craniofacial abnormalities among patients with Edwards Syndrome

    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.

  7. 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

    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.

  8. Chromosomal abnormalities in patients with sperm disorders

    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

  9. Is it important to decipher the heterogeneity of "normal karyotype AML"?

    Nimer, Stephen D

    2008-03-01

    Almost half of adult acute myelogenous leukemia (AML) is normal cytogenetically, and this subgroup shows a remarkable heterogeneity of genetic mutations at the molecular level and an intermediate response to therapy. The finding of recurrent cytogenetic abnormalities has influenced, in a primary way, the understanding and treatment of leukemias. Yet "normal karyotype AML" lacks such obvious abnormalities, but has a variety of prognostically important genetic abnormalities. Thus, the presence of a FLT3-ITD (internal tandem duplication), MLL-PTD (partial tandem duplication), or the increased expression of ERG or EVI1 mRNAs confer a poor prognosis, and an increased risk of relapse. In contrast, the presence of cytoplasmic nucleophosmin or C/EBPA mutations is associated with lower relapse rates and improved survival. Although resistance to treatment is associated with specific mutations, the degree to which the leukemia resembles a stem cell in its functional properties may provide greater protection from the effects of treatment. Although usually all of the circulating leukemia cells are cleared following treatment, a small residual population of leukemic cells in the bone marrow persists, making this disease hard to eradicate. Increased understanding of the biological consequences of at least some of these mutations in "normal karyotype AML" is leading to more targeted approaches to develop more effective treatments for this disease. PMID:18342811

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

    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.

  11. Monosomal karyotype in acute myeloid leukemia : A better indicator of poor prognosis than a complex karyotype

    Breems, Dimitri A.; Van Putten, Wim L. J.; De Greef, Georgine E.; Van Zelderen-Bhola, Shama L.; Gerssen-Schoorl, Klasien B. J.; Mellink, Clemens H. M.; Nieuwint, Aggie; Jotterand, Martine; Hagemeijer, Anne; Beverloo, H. Berna; Lowenberg, Bob

    2008-01-01

    Purpose To investigate the prognostic value of various cytogenetic components of a complex karyotype in acute myeloid leukemia (AML). Patients and Methods Cytogenetics and overall survival (OS) were analyzed in 1,975 AML patients age 15 to 60 years. Results Besides AML with normal cytogenetics (CN)

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

    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. PMID:27270786

  13. Karyotype Analysis of Chronic and Acute myeloid

    Bone Marrow Samples in our Laboratory were Received brought from Hospital and Clinics. Patients were Variable (CML, AML). The bone marrow cells using a special media for 24 hours without adding any mitogene were cultured, the samples to obtain a good quality metaphases were treated. The karyotype (fixing, G-banding, gimsa staining) was studied, FISH technique using specific DNA probes for CML and AML was applied. The results were as follow: 2008, (52,56,62). The result for each patient with an illustration figure was given. Statistics of the cases and the results in this work was presented. (author)

  14. Congenital Abnormalities

    ... blood flow to the fetus impair fetal growth. Alcohol consumption and certain drugs during pregnancy significantly increase the risk that a baby will be born with abnormalities (e.g. fetal alcohol spectrum disorders ). Eating raw or uncooked foods during pregnancy can also be dangerous to health of the ...

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

    Sidhu, Manpreet; Kale, Alka D; Kotrashetti, Vijayalakshmi S

    2012-01-01

    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 ×100 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. PMID:23248471

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

    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.

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

    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…

  18. Karyotype of dormice Eliomys quercinus from Tirol (Austria)

    Ramalhinho, M. D.; Libois, Roland

    2005-01-01

    A karyotype of 2n = 52 chromosomes was found in two Eliomys quercinus (Linnaeus, 1766) specimens from two different localities of Tirol (Austria). The karyotype is similar to the one described in the Italian Alps, suggesting that these mountains were not a barrier to the northern expansion of this chromosomal race. Peer reviewed

  19. Karyotypes in Ethiopian Aloe species (Xanthorrhoeaceae: Asphodeloideae)

    Fentaw, Eshetu; Dagne, Kifle; Rønsted, Nina;

    2013-01-01

    minor karyotypic variation typical of closely related species. The metrics showed that A. benishangulana has a marginally higher degree of asymmetry than is typical, and the pubescent-flowered A. trichosantha has a more symmetrical karyotype than most other species. We suggest that structural genome...

  20. The DNA-based human karyotype.

    Mayall, B H; Carrano, A V; Moore, D H; Ashworth, L K; Bennett, D E; Mendelsohn, M L

    1984-07-01

    Image cytometry and computer analysis are used to determine the relative DNA content and the DNA-based centromeric index of the 24 chromosomes of the human karyotype. A two-step procedure is used. Chromosomes of cells in metaphase first are stained with quinacrine and identified visually by their fluorescent Q-band patterns. They then are stained for DNA using gallocyanin-chrome alum. The chromosome images are scanned and recorded as digital values of optical density by an CYDAC image cytometric microscope system, CYDAC. The digital images are processed by computer to measure for each chromosome the relative DNA stain contents of the whole chromosome and of the p and q arms and the DNA-based centromeric index. About ten cells are analyzed for each of the donors, who are phenotypically normal men and women. The chromosome measurements are pooled by chromosome type for each donor and are compared among donors. The means of the chromosome measurements give the DNA-based human karyotype. Analysis of the DNA-based data shows that some chromosomes or portions of chromosomes vary significantly among donors. These variants do not correlate with detectable morphologic polymorphisms, such as Q- or C-band variants; thus they represent new and otherwise undetectable chromosome polymorphisms whose genetic basis and clinical significance are yet to be determined. PMID:6205836

  1. Acquired intrathoracic kidney in thoracic kyphosis

    Two cases of acquired intrathoracic kidney associated with thoracic kyphosis are reported, with emphasis on the radiographic manifestations. A search of the scientific literature disclosed that the acquired type of this abnormality is rare. The importance of recognizing this entity from a differential diagnostic standpoint is underscored. (author)

  2. Karyotypic analysis of different populations of Carthamus tinctorius Linnaeus (Asteraceae

    Anjali Malik

    2009-08-01

    Full Text Available Somatic chromosomes of Carthamus tinctorius L. were analysed. A karyotype formula for each studied population was formulated. Although all samples have 2n = 24, they could be differentiated by their karyotype formula and quantitative parameters of the karyotypes. The chromosomes were assorted into different categories on the basis of arms ratio following Levan et al. (1964. These were further subdivided into different types, on the basis of total length of the chromosomes. Based on an evolutionary point of view, variation in total chromosome length without major changes in the karyotype formula suggests that changes in the amounts of genomic DNA are proportional to the relative length of an each chromosome arm. All samples possessed symmetrical or slightly asymmetrical karyotype. The samples belonging to the same species were showing intra-specific or inter-specific chromosome polymorphism. This finding may provide useful information for Carthamus evolutionary, genetic, and breeding studies.

  3. Parallel Patient Karyotype Information System using Multi-threads

    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.

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

    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.

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

    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. PMID:25542186

  6. Karyotype of umbilical cord blood from 627 fetus cord blood%627例胎儿脐血染色体核型分析

    卢丽华; 邹德学; 胡飞雪

    2013-01-01

    Objective:To study the application of karyotype of umbilical cord blood in prenatal diagnosis,according to the rate of fetal chromosomal aberrations,the type of chromosomal aberrations and the related clinical indications.Methods:Collecting fetal blood 627 pregnant women by umbilical cord puncture with informed consents,and lymphocyte culture and chromosomal karyotypes were examined.Results:There were 42 cases with chromosomal aberrations.The rate of chromosomal aberrations was 6.7%.There were 17cases with trisomy syndrome and the rate was 89.5% in the number abnormal karyotypes.There were 2 cases with sex chromosome aberrations and 4 cases mosaic.There were 10 cases with inversion and rate is 52.6% in the structure abnormal karyotypes.All other cases with the structure abnormal karyotypes were partial monosomy and partial trisomy.The rates of the abnormal karyotypes in Down's high-risk group,abnormal ultra-sonographic findings group and advanced maternal age group were 8.3%,7.6% and 4.5%.There was no abnormal karyotype in the other groups.The constituent ratios of abnormal ultra-sonographic findings group and the Down's high-risk group were 48.5% and 31.6%,which was significant difference (P < 0.05).Conclusions:The fetal developmental anomaly was an.important clinical indication for karyotype of umbilical cord blood.The trisomy was the main karyotype,and umbilical cord blood karyotyping was an important method of prenatal diagnosis in the mid and late pregnancy.%目的 通过胎儿脐血异常核型检出率、类型分布及相应穿刺指征的关系,探讨胎儿脐血染色体分析在产前诊断中的应用.方法 知情同意后对有产前诊断指征的孕妇627例,行脐静脉穿刺,采集胎儿脐血1.5-2ml,经淋巴细胞体外培养,显微镜下进行染色体核型分析.结果 627例脐血42例核型异常,异常率为6.7%.其中,三体征17例,占数目异常的89.5%,性染色体数目异常2例,嵌合体4例.倒位10

  7. Holoprosencephaly: An update on cytogenetic abnormalities. : holoprosencephaly and cytogenetics

    Bendavid, Claude; Dupé, Valérie; Rochard, Lucie; Gicquel, Isabelle; Dubourg, Christèle; David, Véronique

    2010-01-01

    Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure of midline cleavage early in gestation. Isolated HPE, which is highly genetically heterogeneous, can be due to major chromosomal abnormalities. Initially, karyotype approach led to the identification of several recurrent chromosomal anomalies predicting different HPE loci. Subsequently, several genes were isolated from these critical HPE regions, but point mutations and deletions...

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

    Carlos M Baeza; Eduardo Ruiz; Patricio Novoa

    2010-01-01

    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 ...

  9. Karyotypes of three species of the marine Veneroida molluscs

    Sun Zhenxing; Shao Yanqun; Guo Shengchao; Qin Yan; Yang Aiguo

    2003-01-01

    The karyotypes of three species of marine Veneroida molluscs, Solen grandis Dunker,Saxidomus purpuratus Sowerby and Mactra chinensis Philippi were studied by using the adult gill tissues. The chromosomes were prepared through injecting phytohemagglutinin (PHA) and colchicine, hypotonic treatment, chopping air-dry, and squashing technology. The results show that the diploid chromosome numbers of the three Veneroida species are the same as 2 n = 38. The karyotype of Solen grandis is 26m + 6sm + 2st + 4t, NF = 70, the karyotype of Saxidomus purpuratus is 32m + 2sm + 4st/t, NF = 72, and the karyotype of Mactra chinensis is 20m + 16sm + 2st/t, NF = 74. Satellite and sex chromosome were not found among the chromosomes of three species.

  10. Chromosomal abnormalities in a psychiatric population

    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.

  11. Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping.

    Trask, B; van den Engh, G; Mayall, B; Gray, J. W.

    1989-01-01

    Maternal and paternal homologues of many chromosome types can be differentiated on the basis of their peak position in Hoechst 33258 versus chromomycin A3 bivariate flow karyotypes. We demonstrate here the magnitude of DNA content differences among normal chromosomes of the same type. Significant peak-position differences between homologues were observed for an average of four chromosome types in each of the karyotypes of 98 different individuals. The frequency of individuals with differences...

  12. Karyotypic characterization of Capsicum sp. accessions

    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 the ...

  13. The Karyotype Ontology: a computational representation for human cytogenetic patterns

    Warrender, Jennifer D.; Lord, Phillip

    2013-01-01

    The karyotype ontology describes the human chromosome complement as determined cytogenetically, and is designed as an initial step toward the goal of replacing the current system which is based on semantically meaningful strings. This ontology uses a novel, semi-programmatic methodology based around the tawny library to construct many classes rapidly. Here, we describe our use case, methodology and the event-based approach that we use to represent karyotypes. The ontology is available at http...

  14. New Fusion Transcripts Identified in Normal Karyotype Acute Myeloid Leukemia

    Hongxiu Wen; Yongjin Li; Malek, Sami N.; Kim, Yeong C.; Jia Xu; Peixian Chen; Fengxia Xiao; Xin Huang; Xianzheng Zhou; Zhenyu Xuan; Shiva Mankala; Guihua Hou; Rowley, Janet D.; Zhang, Michael Q; San Ming Wang

    2012-01-01

    Genetic aberrations contribute to acute myeloid leukemia (AML). However, half of AML cases do not contain the well-known aberrations detectable mostly by cytogenetic analysis, and these cases are classified as normal karyotype AML. Different outcomes of normal karyotype AML suggest that this subgroup of AML could be genetically heterogeneous. But lack of genetic markers makes it difficult to further study this subgroup of AML. Using paired-end RNAseq method, we performed a transcriptome analy...

  15. Karyotype analysis of ten sections of Trigonella (Fabaceae)

    Esra Martin; Akan, H.; Ekici, M; Aytac, Z.

    2011-01-01

    Abstract Karyotypes of ten sections of genus Trigonella Linnaeus, 1753 (Fabaceae) from Turkey were investigated. Somatic chromosome numbers of examined species were determined as 2n=14 and 16. The karyotype analyses of the species were carried out and somatic chromosome numbers of Trigonella plicata Boiss., 1872, Trigonella brachycarpa (Fisch.) Moris, 1833, Trigonella rostrata Boiss., 1872, Trigonella lunata Boiss., 1843, Trigonella isthmocarpa Boiss. et Balansa 1856, Trigonella rhytidocarpa ...

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

    Natalia Golub; Valentina Kuznetsova; Roman Rakitov

    2014-01-01

    Abstract 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 (TTAGG) n telomeric probes. A karyotype of 2n = 16 + XY, NOR on a medium-sized pair of autosomes, subterminal location of C-heterochromatin, and presence of (TTAGG) n telomeric sequence were determined. Additionall...

  17. Karyotype in Pediatric Acute Lymphoblastic Leukemia: Impact On Clinical Presentation and Duration of First Remission

    In this study we are aiming at investigating the correlation between karyotype and the clinico pathologic features of pediatric acute lymphoblastic leukemia, duration of first remission and outcome of patients. Material and Methods: A total of 40 pediatric patients with the diagnosis of acute ]lymphoblastic leukemia (ALL) were included in this study. The patients were treated according to ALL P.NCI III/98 protocol used at the Pediatric Oncology Unit, National Cancer Institute, Cairo University. Analyzing the patients with respect to their chromosomal pattern; the majority of patients (17/40, 42.5%) showed a pseudo diploid karyotype. Their mean age was 10.2±4.8 years, M/F ratio 2.4: I. Massive hepatosplenomegaly (HSM) was encountered in 64.7%. The mean total leucocyte count (TLC) was 66.53±5.2 cells per μl. Their mean first complete remission (CR]) was 11.05±2.3 months, EFS was 40% at 12 months and 17.78% at 24 months. Patients with normal karyotype came next, representing ]3/40 (32.5%). Their mean age was 8.4±1.8 years, M/F 0.8: I. Massive HSM was found in 62.5%. The mean TLC was 78.74±3.8 cells per μl. Their mean CR 1 was I I.62±1.2 months, EFS was 41.67% at 12 months and 33.33% at 24 months. The third group represented patients with hyper diploidy (8/40; 20%). Their mean age was 8. 8±3. I years, M/F 7: I. Massive HSM was found in 50%. The mean TLC was 45.16±3.1 cells per μl], their mean CR I was 18.] 0±3.4 months, EFS was 75% at 12 months and 62.5% at 24 months. The least group showed a hypo diploid pattern (5/40; 12.5%). Their mean age was] 3±2.6 years, all were males. Massive HSM was encountered in 100%. The mean TLC was 20.00±2.9 cells per Ill. Their mean CRI was 10±2.8 months. Egyptian patients with childhood ALL who have hyper diploid karyotype, specially those having >50 chromosomes carry a better prognosis than patients with other chromosomal abnormalities. Pseudo diploid karyotype is the most frequent among Egyptian ALL cases and this could

  18. Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping.

    Trask, B; van den Engh, G; Mayall, B; Gray, J W

    1989-11-01

    Maternal and paternal homologues of many chromosome types can be differentiated on the basis of their peak position in Hoechst 33258 versus chromomycin A3 bivariate flow karyotypes. We demonstrate here the magnitude of DNA content differences among normal chromosomes of the same type. Significant peak-position differences between homologues were observed for an average of four chromosome types in each of the karyotypes of 98 different individuals. The frequency of individuals with differences in homologue peak positions varied among chromosome types: e.g., chromosome 15, 61%; chromosome 3, 4%. Flow karyotypes of 33 unrelated individuals were compared to determine the range of peak position among normal chromosomes. Chromosomes Y, 21, 22, 15, 16, 13, 14, and 19 were most heteromorphic, and chromosomes 2-8 and X were least heteromorphic. The largest chromosome 21 was 45% larger than the smallest 21 chromosome observed. The base composition of the variable regions differed among chromosome types. DNA contents of chromosome variants determined from flow karyotypes were closely correlated to measurements of DNA content made of gallocyanin chrome alum-stained metaphase chromosomes on slides. Fluorescence in situ hybridization with chromosome-specific repetitive sequences indicated that variability in their copy number is partly responsible for peak-position variability in some chromosomes. Heteromorphic chromosomes are identified for which parental flow karyotype information will be essential if de novo rearrangements resulting in small DNA content changes are to be detected with flow karyotyping. PMID:2479266

  19. Effect of low doses of estradiol and tamoxifen on breast cancer cell karyotypes.

    Rondón-Lagos, Milena; Rangel, Nelson; Di Cantogno, Ludovica Verdun; Annaratone, Laura; Castellano, Isabella; Russo, Rosalia; Manetta, Tilde; Marchiò, Caterina; Sapino, Anna

    2016-08-01

    Evidence supports a role of 17&-estradiol (E2) in carcinogenesis and the large majority of breast carcinomas are dependent on estrogen. The anti-estrogen tamoxifen (TAM) is widely used for both treatment and prevention of breast cancer; however, it is also carcinogenic in human uterus and rat liver, highlighting the profound complexity of its actions. The nature of E2- or TAM-induced chromosomal damage has been explored using relatively high concentrations of these agents, and only some numerical aberrations and chromosomal breaks have been analyzed. This study aimed to determine the effects of low doses of E2 and TAM (10(&8 )mol L(&1) and 10(&6 )mol L(&1) respectively) on karyotypes of MCF7, T47D, BT474, and SKBR3 breast cancer cells by comparing the results of conventional karyotyping and multi-FISH painting with cell proliferation. Estrogen receptor (ER)-positive (+) cells showed an increase in cell proliferation after E2 treatment (MCF7, T47D, and BT474) and a decrease after TAM treatment (MCF7 and T47D), whereas in ER& cells (SKBR3), no alterations in cell proliferation were observed, except for a small increase at 96 h. Karyotypes of both ER+ and ER& breast cancer cells increased in complexity after treatments with E2 and TAM leading to specific chromosomal abnormalities, some of which were consistent throughout the treatment duration. This genotoxic effect was higher in HER2+ cells. The ER&/HER2+ SKBR3 cells were found to be sensitive to TAM, exhibiting an increase in chromosomal aberrations. These in vitro results provide insights into the potential role of low doses of E2 and TAM in inducing chromosomal rearrangements in breast cancer cells. PMID:27357940

  20. Clonal proliferation and karyotypic features of cells in bone marrow after irradiation

    Single stem cells in which chromosome abnormalities are induced by radiation may multiply to form the chromosomally abnormal clones of cells that may replace most of the cells in regenerating hematopoietic tissues after irradiation. It is only a limited number of karyotypes out of a variety of the cells with radiation-induced chromosome abnormalities that can persist as proliferative clones. Such clones in the bone marrows of irradiated rats were found to have aneusomic chromosome constitutions with trisomy or monosomy. This finding is contradictory to the general beliefs that the chromosomally abnormal clones surviving after irradiation would have the chromosome constitutions comparable to a normal diploid set making such clone cells selectively neutral, and that autosomally monosomic cells would not be able to compete against the cells in normal somatic tissues. The proliferation of aneusomic cells in hematopoietic tissues is a phenomenon observable in various blood disorders such as leukemia. The fact that almost all of the aneuploid clones observed possessed various chromosomal rearrangements in addition to their numerical changes appears to indicate that the chromosomal imbalance in original clones may predispose their chromosomes to non-disjunction. The process of the leukemic development of cells may require two steps: the leukemic transformation of cells and the proliferation of such transformed cells up to the manifestation of the disease. (Yamashita, S.)

  1. 2756例外周血染色体核型分析及临床意义%Analysis and clinic meaning of chromosome karyotypes of 2756 genetic counseling

    宋桂宁; 梁梅英

    2011-01-01

    Objective To analysis the relationship between abnormal karyotypes and chromosome and disease.s, to offer basics for clinic genetic counseling. Methods 2 756 peripheral blood samples from outpatients with genetic counseling were tested for chromose karyotype. Results There were 181 cases of abnormal karyotypes with the rate of abnormal karyotypes of 6. 57%, Of which, 43 cases were Down's syndrome (1. 56%), 74 cases were abnormal karyotypes of euchromosome (2. 69%), 64 cases were abnormal karyotypes of sex chromosome (2. 32%). Conclusions The abnormal karyotype is the most common reason causing natural abortion, fetal death, congenital malfomtion, feeblemindedness, dead fetus, primary amenorrhea, infertility for man and obstacle of growth development. Chromose karyotype should be tested for these patients.%目的 分析染色体异常核型与临床常见疾患的关系,为临床咨询及处理提供参考依据.方法 对北京大学人民医院2000年1月至2010年6月2 756例具有不同临床表现的遗传咨询者进行外周血染色体核型检查,总结其结果,并分析其临床表现与染色体异常的相关性及临床意义.结果 2 756例染色体核型检查中发现异常核型181例,异常检出率为6.57%.其中21-三体综合征43例(1.56%),常染色体异常74例(2.69%),性染色体异常64例(2.32%).结论 染色体异常是造成智力低下、不良孕产史、原发闭经、男性不育等重要原因之一,临床上应重视对上述疾患者的染色体核型检查,从而为临床诊断和产前诊断提供依据.

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

    M. Srebniak (Malgorzata); M. Boter (Marjan); G.G. Oudesluijs (Grétel); T.E. Cohen-Overbeek (Titia); L.C. Govaerts (Lutgarde); K.E.M. Diderich (Karin); R. Oegema (Renske); M.F.C.M. Knapen (Maarten); I.M.B.H. van de Laar (Ingrid); M. Joosten (Marieke); A.R.M. van Opstal (Diane); R-J.H. Galjaard (Robert-Jan)

    2012-01-01

    textabstractBackground: 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 perfor

  3. Acquired cystic disease-associated renal cell carcinoma with sarcomatoid change and rhabdoid features.

    Kuroda, Naoto; Tamura, Masato; Hamaguchi, Nobumasa; Mikami, Shuji; Pan, Chin-Chen; Brunelli, Matteo; Martignoni, Guido; Hes, Ondrej; Michal, Michal; Lee, Gang-Hong

    2011-12-01

    Acquired cystic disease (ACD)-associated renal cell carcinoma (RCC) is a recently described entity. To the best of our knowledge, there are no reports of ACD-associated RCC with sarcomatoid and rhabdoid changes. In this article, we present the first case of such a tumor. A 56-year-old Japanese man has received long-term hemodialysis and had a history of right renal cancer. Following the discovery of metastatic cancer in the thoracic wall, detailed imaging studies revealed a mass in the left kidney. The histologic examination of the left renal tumor showed ACD-associated RCC with sarcomatoid change and rhabdoid features. Immunohistochemically, intracytoplasmic globular inclusions in rhabdoid cells were positive for vimentin and cytokeratin CAM5.2. The G-band karyotype showed the following changes: 46, X, +X. -Y[1]/43, idem, add(2)(q31), -6, -9, -14, -15, +16, -22, +mar1[6]/46, XY[2]/abnormal cell[11]. In conclusion, pathologists and urologists should be aware that rhabdoid features may occur in ACD-associated RCC and that the loss of chromosomes 9 and 14 may occur during the process of sarcomatoid change in ACD-associated RCC. PMID:21036640

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

    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.

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

    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. PMID:26676686

  6. Neuroimaging abnormalities in Griscelli's disease

    Griscelli's disease is a rare autosomal recessive immunodeficiency syndrome. We report a 7-1/2-month-old white girl who presented with this syndrome, but initially without neurological abnormalities. Initial CT of the brain was normal. Despite haematological remission with chemotherapy, she developed neurological symptoms, progressing to coma. At this time, CT showed areas of coarse calcification in the globi pallidi, left parietal white matter and left brachium pontis. Hypodense areas were present in the genu and posterior limb of the internal capsule on the right side, as well as posterior aspects of both thalami, together with minimal generalised atrophy. MRI revealed areas of increased T2 signal and a focal area of abnormal enhancement in the subcortical white matter. Griscelli's disease should be added to the list of acquired neuroimaging abnormalities in infants. (orig.)

  7. 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

    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.

  8. KARYOTYPE STUDY IN PATIENTS WITH HEARING DISABILITY

    Rajput H B; Ruparel S M; Jadav H R; Pensi C A

    2012-01-01

    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 in...

  9. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

    Croonen, Ellen A; Nillesen, Willy M.; Stuurman, Kyra E; Oudesluijs, Gretel; van de Laar, Ingrid M B M; Martens, Liesbeth; Ockeloen, Charlotte; Mathijssen, Inge B.; Schepens, Marga; Ruiterkamp-Versteeg, Martina; Scheffer, Hans; Faas, Brigitte H. W.; Van Der Burgt, Ineke; Helger G Yntema

    2013-01-01

    In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have been reported in 9–16% of cases. In this study, DNA of 75 fetuses with a normal karyotype and abnormal ultrasound findings was tested in a diagnostic setting for mutations in (a subset of) the four most commonly mutated NS genes. A de novo mutation in either PTPN11, KRAS or RAF1 was detected in 13 fetuses (17.3%). Ultrasound findings were ...

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

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

    2016-01-01

    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

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

    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.

  12. Karyotype analysis of some Onobrychis (sainfoin) species in Turkey

    Akçelik Somay Esra; Avci S.; Uzun S; Sancak C.

    2012-01-01

    In this study, karyotype analysis of the species of Onobrychis sp. was undertaken using the squash method. The results showed that the chromosome number of Onobrychis tournefortii (Willd.) Desv., O. gracilis Besser, O. hypargyrea Boiss. is 2n = 14 and O. argyrea Boiss. subsp. argyrea Boiss., 2n = 16. The karyotype formula of O. tournefortii (Willd.) Desv. is 4m+3sm, of O. hypargyrea Boiss. and O. gracilis Besser 3m+4sm, and of O. argyrea Boiss. subsp. argyrea Boiss. 2m+ 5sm+1 st.

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

    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.

  14. Hospital-acquired pneumonia

    ... this page: //medlineplus.gov/ency/article/000146.htm Hospital-acquired pneumonia To use the sharing features on this page, please enable JavaScript. Hospital-acquired pneumonia is an infection of the lungs ...

  15. Complex karyotype in mantle cell lymphoma is a strong prognostic factor for the time to treatment and overall survival, independent of the MCL international prognostic index.

    Sarkozy, Clémentine; Terré, Christine; Jardin, Fabrice; Radford, Isabelle; Roche-Lestienne, Catherine; Penther, Dominique; Bastard, Christian; Rigaudeau, Sophie; Pilorge, Sylvain; Morschhauser, Franck; Bouscary, Didier; Delarue, Richard; Farhat, Hassan; Rousselot, Philippe; Hermine, Olivier; Tilly, Hervé; Chevret, Sylvie; Castaigne, Sylvie

    2014-01-01

    Mantle cell lymphoma (MCL) is usually an aggressive disease. However, a few patients do have an "indolent" evolution (iMCL) defined by a long survival time without intensive therapy. Many studies highlight the prognostic role of additional genetic abnormalities, but these abnormalities are not routinely tested for and do not yet influence the treatment decision. We aimed to evaluate the prognostic impact of these additional abnormalities detected by conventional cytogenetic testing, as well as their relationships with the clinical characteristics and their value in identifying iMCL. All consecutive MCL cases diagnosed between 1995 and 2011 at four institutions were retrospectively selected on the basis of an informative karyotype with a t(11;14) translocation at the time of diagnosis. A total of 125 patients were included and followed for an actual median time of 35 months. The median overall survival (OS) and survival without treatment (TFS) were 73.7 and 1.3 months, respectively. In multivariable Cox models, a high mantle cell lymphoma international prognostic index score, a complex karyotype, and blastoid morphology were independently associated with a shortened OS. Spleen enlargement, nodal presentation, extra-hematological involvement, and complex karyotypes were associated with shorter TFS. A score based on these factors allowed for the identification of "indolent" patients (median TFS 107 months) from other patients (median TFS: 1 month). In conclusion, in this multicentric cohort of MCL patients, a complex karyotype was associated with a shorter survival time and allowed for the identification of iMCL at the time of diagnosis. PMID:24249260

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

    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.

  17. Karyotype instability in the ponerine ant genus Diacamma

    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.

  18. Karyotypic variation in mammals of the Balkan Peninsula

    Zima, Jan

    Dordrecht : Kluwer Academic, 2004 - (Griffiths, H.; Kryštufek, B.; Reed, J.), s. 109-133 ISBN 1-4020-2853-9 R&D Projects: GA ČR GA206/01/0562 Institutional research plan: CEZ:AV0Z6093917 Keywords : karyotypes * Balkan Peninsula * Mammalia Subject RIV: EB - Genetics ; Molecular Biology

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

    Bomme, L; Bardi, G; Pandis, N;

    1998-01-01

    the colon, no karyotypic similarity between the lesions was found. Our findings indicate that whereas close, but macroscopically distinct, synchronous colorectal adenomas usually have a common pathway of progression, perhaps even the same clonal origin, large bowel adenomas at a considerable distance...

  20. A Fluorescence In Situ Hybridization System for Karyotyping Soybean

    The development of a universal soybean (Glycine max [L.] Merr.) cytogenetic map that associates classical genetic linkage groups, molecular linkage groups and a sequence-based physical map with the karyotype has been impeded due to the soybean chromosomes themselves, which are tiny and morphological...

  1. Karyotype analysis in octoploid and decaploid wild strawberries, Fragaria (Rosaceae)

    The 20 wild species of strawberries in the genus Fragaria (Rosaceae), have a euploid series including diploid (2n = 2x = 14) through decaploid (2n = 10x = 70) members. Karyotyping has not been thoroughly examined. The objective of this research was to determine the chromosomal morphology and karyoty...

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

    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

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

    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.

  4. Autism and chromosome abnormalities-A review.

    Bergbaum, Anne; Ogilvie, Caroline Mackie

    2016-07-01

    The neuro-behavioral disorder of autism was first described in the 1940s and was predicted to have a biological basis. Since that time, with the growth of genetic investigations particularly in the area of pediatric development, an increasing number of children with autism and related disorders (autistic spectrum disorders, ASD) have been the subject of genetic studies both in the clinical setting and in the wider research environment. However, a full understanding of the biological basis of ASDs has yet to be achieved. Early observations of children with chromosomal abnormalities detected by G-banded chromosome analysis (karyotyping) and in situ hybridization revealed, in some cases, ASD associated with other features arising from such an abnormality. The introduction of higher resolution techniques for whole genome screening, such as array comparative genome hybridization (aCGH), allowed smaller imbalances to be detected, some of which are now considered to represent autism susceptibility loci. In this review, we describe some of the work underpinning the conclusion that ASDs have a genetic basis; a brief history of the developments in genetic analysis tools over the last 50 years; and the most common chromosome abnormalities found in association with ASDs. Introduction of next generation sequencing (NGS) into the clinical diagnostic setting is likely to provide further insights into this complex field but will not be covered in this review. Clin. Anat. 29:620-627, 2016. © 2016 Wiley Periodicals, Inc. PMID:27012322

  5. In 17l couples with spontaneous abortion chromosome karyotype analysis%玉林地区171对自然流产夫妇染色体核型分析

    邓国生; 张炬光; 何娟

    2013-01-01

    Objective:To study the relationship between spontaneous abortion and abnormal chromosome karyotype.Methods:Atotal of 171 couples with spontaneous abortions in the peripheral slices karyotype chromosome abnormal status statistics.Results:In 171 couples with spontaneous abortion,abnormal chromosome karyotype in 20 cases,abnormal chromosome karyotype detection rate was 5.87% (20 / 342),In 20 patients with abnormal karyotype of chromosome translocation in 4 robersonian translocation (20%)robertson; 3 cases of reciprocal translocation (15 %) ; Chromosomal inversions in 7 cases (35 %) ; mosaic in 1 cases (5 %) ; Chromosome polymorphism in 5 cases (25%).With the increase of times of spontaneous abortion,karyotypic abnormalities in the proportion of the increase,the proportion had statistical significance.Conclusion:spontaneous abortion pregnant women and couples with chromosomal abnormalities are closely related.%目的 探讨自然流产与染色体核型异常关系.方法 对171对自然流产夫妇的外周血行染色体核型检查统计染色体核型异常状况.结果 171对自然流产夫妇中,染色体核型异常共20例,染色体核型异常检出率5.87% (20/342),20例异常核型中染色体罗伯逊易位4例(20%);相互易位3例(15%);染色体倒位7例(35%);嵌合体1例(5%);染色体多态5例(25%).随自然流产次数的增加,核型异常所占比例增加,其构成比具有统计学意义.结论 自然流产与孕妇夫妇染色体异常核型密切相关.

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

    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

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

    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. PMID:24998339

  8. Karyotype analysis and relationship with the curative effect in 80 patients with acute lymphocytic leukemia%急性淋巴细胞白血病80例染色体核型分析及其与疗效的相关性

    刘虹; 木合拜尔·阿布都尔; 张玥玥; 王晓敏

    2014-01-01

    目的 探讨急性淋巴细胞白血病(ALL)患者的染色体核型特点及其与疗效的关系.方法 采用短期培养法、R显带技术对80例ALL患者骨髓染色体核型进行分析.结果 80例ALL患者中,正常核型53例(66.2%),异常核型27例(33.8%),其中,染色体核型结构异常者10例(12.5%),数目异常者2例(2.5%),复杂异常15例(18.8%).按数目畸变分类,> 50的超二倍体2例(2.5%)、47~50的超二倍体5例(6.25%)、假二倍体18例(22.5%)、正常二倍体53例(66.25%)、亚二倍体2例(2.5%)、未见近三倍体或近四倍体.正常核型患者疗效优于异常核型患者(x2=19.371,P< 0.01),复杂核型患者疗效差于其他核型患者(x2=9.145,P=0.004),伴有t(9;22)(q34;q11)患者疗效差于其他核型患者(x2=5.785,P=0.021).结论 ALL患者的染色体核型异常具有随机性,常见的异常核型为复杂核型和伴有t(9;22)(q34;q11)核型,其疗效均较差.%Objective To explore the chromosome kauotype characteristics and the relationship with curative effect in the acute lymphoblastic leukemia (ALL).Methods The bone marrow cells were collected using a short-term culture method.The R banding technique of chromosome karyotype analysis was used in 80 cases of ALL patients.Results Normal karyotype were found in 53 cases (66.2 %),and abnormal karyotype in 27 cases (33.8 %),including structure of chromosome karyotype in 10 cases (12.5 %),chromosome numerical abnormality in 2 cases (2.5 %),abnormal complex karyotype in 15 cases (18.8 %).According to the classification number of distortion,it was found that > 50 diploid in 2 cases (2.5 %),47-50 diploid in 5 cases (6.25 %),false diploid in 18 cases (22.5 %),normal diploid in 53 cases (66.25 %),the diploid in 2 cases (2.5 %),it did not shown any karyotype was triploid or nearly four times.The curative effect of normal karyotype was superior to that of the abnormal karyotype (x2 =19.371,P < 0.01),that of complex

  9. Acquired pulmonary arteriovenous malformation secondary to hydatid cyst operation.

    Gezer, S; Turut, H; Oz, G; Demirag, F; Tastepe, I

    2007-10-01

    Pulmonary arteriovenous malformations are abnormal communications between pulmonary arteries and pulmonary veins. The majority of the cases are congenital in origin, and acquired pulmonary arteriovenous malformations are very rare. We present a case here, which - to the best of our knowledge - is the first acquired pulmonary arteriovenous malformation secondary to a hydatid cyst operation in the literature, and we discuss the etiology, clinical presentation, diagnostic modalities and treatment of acquired pulmonary arteriovenous malformations. PMID:17902072

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

    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). PMID:23570267

  11. Urine - abnormal color

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

    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.

  13. Research on the karyotype and evolution of Drosophila melanogaster species group.

    Deng, Qiuhong; Zeng, Qingtao; Qian, Yuanhuai; Li, Chunxuan; Yang, Yong

    2007-03-01

    Mitotic metaphase chromosomes of 34 species of Drosophila melanogaster species group were examined. Certain new karyotypes were described for the first time, and their evolutionary and interspecific genetic relationships among 8 subgroups of D. melanogaster species group were analyzed systematically. The results were as follows. The basic karyotype of elegans subgroup was type A. The karyotypes of eugracilis subgroup, melanogaster subgroup, and ficusphila subgroup were all type C. The karyotypes of takahashii subgroup and suzukii subgroup were both type C and type D. The montium subgroup had six kinds of karyotypes: types B, C, C', D, D', and E. The ananassae subgroup had three kinds of karyotypes: types F, G, and H. Thus, the melanogaster species group was classified into five pedigrees based on the diversity of these karyotypes: 1) elegans; 2) eugracilis-melanogaster-ficusphila; 3) takkahashii-suzukii; 4) montium; 5) ananassae. The above-mentioned results in karyotypic evolution were consistent with those of DNA sequence analysis reported by Yang except for the elegans subgroup and this subgroup was considered as the ancestral subgroup. Karyotype analysis of the same drosophila from different isofemale lines indicated that the same Drosophila from different places showed karyotypic variation which might be due to different geographical environment and evolutionary degree or interaction between the two factors. PMID:17498617

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

    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,...

  15. Karyotypes of Pneumocystis carinii derived from several mammals

    Cho, Sang Rock; Park, Yun-Gyu; Moon, Hyung Nam; Lee, Soon-Hyung; Hong, Sung-Tae

    1999-01-01

    Pneumocystis carinii is the most important opportunistic pathogen of humans in the world. Pneumocystis carinii is experimentally detected in the lungs of rats, mice, rabbits, and monkeys, however, the organisms from different mammals are identical in microscopic morphology. The present study tried to find out more mammalian hosts of P. carinii and also to differentiate the organisms from different mammals by karyotyping. Rats, mice, hamsters, rabbits, cats, and dogs were successfully infected...

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

    Cyrus Cyril; Chandra N; Jegatheesan T; Chandralekha K; Ramesh A; Gopinath P; Marimuthu K

    2005-01-01

    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 sh...

  17. Karyotype and genome size in Euterpe Mart. (Arecaceae) species

    Oliveira, Ludmila Cristina; de Oliveira, Maria do Socorro Padilha; Davide, Lisete Chamma; Torres, Giovana Augusta

    2016-01-01

    Abstract Euterpe (Martius, 1823), a genus from Central and South America, has species with high economic importance in Brazil, because of their palm heart and fruits, known as açaí berries. Breeding programs have been conducted to increase yield and establish cultivation systems to replace the extraction of wild material. These programs need basic information about the genome of these species to better explore the available genetic variability. The aim of this study was to compare Euterpe edulis (Martius, 1824), Euterpe oleracea (Martius, 1824) and Euterpe precatoria (Martius, 1842), with regard to karyotype, type of interphase nucleus and nuclear DNA amount. Metaphase chromosomes and interphase nuclei from root tip meristematic cells were obtained by the squashing technique and solid stained for microscope analysis. The DNA amount was estimated by flow cytometry. There were previous reports on the chromosome number of Euterpe edulis and Euterpe oleracea, but chromosome morphology of these two species and the whole karyotype of Euterpe precatoria are reported for the first time. The species have 2n=36, a number considered as a pleisomorphic feature in Arecoideae since the modern species, according to floral morphology, have the lowest chromosome number (2n=28 and 2n=30). The three Euterpe species also have the same type of interphase nuclei, classified as semi-reticulate. The species differed on karyotypic formulas, on localization of secondary constriction and genome size. The data suggest that the main forces driving Euterpe karyotype evolution were structural rearrangements, such as inversions and translocations that alter chromosome morphology, and either deletion or amplification that led to changes in chromosome size. PMID:27186334

  18. The ancestral eutherian karyotype is present in Xenarthra

    Marta Svartman; Gary Stone; Roscoe Stanyon

    2006-01-01

    Synopsis Living mammals are classified into three major groups: monotremes, marsupials, and placental mammals or Eutherians, composed of 18 orders. Phylogenetic studies point to Afrotheria (a clade of six endemic African orders) or Xenarthra (armadillos, anteaters, and sloths, mostly found in Central and South America) as the most basal Eutherian group. One of the most daring aims of molecular cytogenetics in the past decade has been to establish the karyotype present in a common ancestor of ...

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

    Møller, Lisbeth Birk; Lenartowicz, Malgorzata; Zabot, Marie-Therese;

    2012-01-01

    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 ...... patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes....

  20. Contrasting patterns of karyotype and sex chromosome evolution in Lepidoptera

    Šíchová, Jindra

    2016-01-01

    It is known that chromosomal rearrangements play an important role in speciation by limiting gene flow within and between species. Furthermore, this effect may be enhanced by involvement of sex chromosomes that are known to undergo fast evolution compared to autosomes and play a special role in speciation due to their engagement in postzygotic reproductive isolation. The work presented in this study uses various molecular-genetic and cytogenetic techniques to describe karyotype and sex chromo...

  1. Clinical disease characteristics according to karyotype in Turner syndrome

    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.

  2. Holokinetic centromeres and efficient telomere healing enable rapid karyotype evolution.

    Jankowska, Maja; Fuchs, Jörg; Klocke, Evelyn; Fojtová, Miloslava; Polanská, Pavla; Fajkus, Jiří; Schubert, Veit; Houben, Andreas

    2015-12-01

    Species with holocentric chromosomes are often characterized by a rapid karyotype evolution. In contrast to species with monocentric chromosomes where acentric fragments are lost during cell division, breakage of holocentric chromosomes creates fragments with normal centromere activity. To decipher the mechanism that allows holocentric species an accelerated karyotype evolution via chromosome breakage, we analyzed the chromosome complements of irradiated Luzula elegans plants. The resulting chromosomal fragments and rearranged chromosomes revealed holocentromere-typical CENH3 and histone H2AThr120ph signals as well as the same mitotic mobility like unfragmented chromosomes. Newly synthesized telomeres at break points become detectable 3 weeks after irradiation. The presence of active telomerase suggests a telomerase-based mechanism of chromosome healing. A successful transmission of holocentric chromosome fragments across different generations was found for most offspring of irradiated plants. Hence, a combination of holokinetic centromere activity and the fast formation of new telomeres at break points enables holocentric species a rapid karyotype evolution involving chromosome fissions and rearrangements. PMID:26062516

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

    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.

  4. Karyotype, Sex Determination, and Meiotic Chromosome Behavior in Two Pholcid (Araneomorphae, Pholcidae) Spiders: Implications for Karyotype Evolution

    Golding, Adriana E.; Paliulis, Leocadia V.

    2011-01-01

    There are 1,111 species of pholcid spiders, of which less than 2% have published karyotypes. Our aim in this study was to determine the karyotypes and sex determination mechanisms of two species of pholcids: Physocyclus mexicanus (Banks, 1898) and Holocnemus pluchei (Scopoli, 1763), and to observe sex chromosome behavior during meiosis. We constructed karyotypes for P. mexicanus and H. pluchei using information from both living and fixed cells. We found that P. mexicanus has a chromosome number of 2n = 15 in males and 2n = 16 in females with X0-XX sex determination, like other members of the genus Physocyclus. H. pluchei has a chromosome number of 2n = 28 in males and 2n = 28 in females with XY-XX sex determination, which is substantially different from its closest relatives. These data contribute to our knowledge of the evolution of this large and geographically ubiquitous family, and are the first evidence of XY-XX sex determination in pholcids. PMID:21931842

  5. Contribution of chromosomal abnormalities and genes of the major histocompatibility complex to early pregnancy losses

    Tkach I. R.; Sosnina K. O.; Huleyuk N. L.; Terpylyak O. I.; Zastavna D. V.; Weise A.; Kosyakova N.; Liehr T.

    2015-01-01

    Aim. The determination of chromosomal abnormalities in samples from early pregnancy losses and allelic polymorphism of HLA–DRB1 and DQA1 genes in couples with recurrent miscarriage. Methods. Banding cytogenetic and interphase mFISH analysis, DNA extraction by salting method, PCR, agarose gel electrophoresis. Results. Cytogenetic and molecular-cytogenetic investigations of SA material identified karyotype anomalies in 32.4 % of cases with prevalence of autosomal trisomy – 42.65 %, triploidy – ...

  6. Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma

    Srinivasan, Anupama; Bianchi, Diana W.; Huang, Hui; Sehnert, Amy J.; Rava, Richard P.

    2013-01-01

    The purpose of this study was to determine the deep sequencing and analytic conditions needed to detect fetal subchromosome abnormalities across the genome from a maternal blood sample. Cell-free (cf) DNA was isolated from the plasma of 11 pregnant women carrying fetuses with subchromosomal duplications and deletions, translocations, mosaicism, and trisomy 20 diagnosed by metaphase karyotype. Massively parallel sequencing (MPS) was performed with 25-mer tags at approximately 109 tags per samp...

  7. Laboratory-acquired brucellosis

    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...

  8. Cytogenetic analysis and hearing screeningstudy of congenital abnormality newborns%先天异常新生儿的细胞遗传学分析及听力筛查研究

    冯向春; 孙莹; 贾盛华; 俞冬熠; 曹娜

    2012-01-01

    目的 研究先天异常新生儿的染色体核型分析及听力筛查等临床特点.方法 对115例先天异常新生儿进行染色体核型分析,根据染色体核型分为正常核型组和异常核型组,对两组进研究.结果 115例先天异常新生儿中正常染色体核型64例,异常核型51例,异常检出率44.35%.异常核型中21三体综合征38例,占74.51%.异常核型组听力筛查通过率明显低于正常核型组.结论 21三体综合征是先天异常新生儿中发病率最高、危害最严重的染色体病,染色体核型异常患儿存在明显的听力障碍.积极开展染色体病产前诊断,及时采取干预措施是减少先天异常新生儿出生的必要措施.%Objective: To analyze the congenital abnormality newboms' karyotype analysis and hearing screening in clinical characteristics, etc. Methods; 115 abnormality congenital neonates were examined with peripheral blood karyotype analysis. They were divided into normal kaiyotype group and abnormal karyotype group based on examination results in the clinical controlled study. Results: Normal karyotype was detected in 64 abnormality congenital newboms, abnormal karyotype was 51, which abnormal karyotype accounted for 44. 35 percentage. In the abnormal karyotype group, Down's syndome 38, accounted for 74. 51 percentage. The pass rate of the hearing screening in abnormal karyotype group was significantly less than normal karyotype group. Conclusions; Down's syndome was one of the most harmful chromosome disease with highest morbidity. The hearing disorder was very obvious in this group. So positive chromosome disease's prenatal diagnosis and intervening measure in season were required to reduce congenital anomaly birth.

  9. Karyotype rearrangements in a wine yeast strain by rad52-dependent and rad52-independent mechanisms

    Carro, David; Bartra, Enric; Piña, Benjamín

    2003-01-01

    Yeast strains isolated from the wild may undergo karyotype changes during vegetative growth, a characteristic that compromises their utility in genetic improvement projects for industrial purposes. Karyotype instability is a dominant trait, segregating among meiotic derivatives as if it depended upon only a few genetic elements. We show that disrupting the RAD52 gene in a hypervariable strain partially stabilizes its karyotype. Specifically, RAD52 disruption eliminated recombination at telome...

  10. Karyotype Analysis ofOF Cyprinion Macrostomus Heckel, 1843 (Pisces: Cyprinildae)

    Muhammet GAFFAROĞLU; YÜKSEL, Eşref

    2004-01-01

    In this paper analysis of karyotype of Cyprinion macrostomus, taken from Karakaya Dam Lake (Malatya,Türkiye) were conducted. The specimens were transported alive to laboratory and kept in aerated aquaria in laboratory conditions. Chromosomes were obtained directly from kidneys according to “air drying” method of Collares-Pereira (1992). Upon karyotype analysis it is established that the diploid chromosome numbers is 2n=50, the karyotype composed of 3 pairs of metacentric, 12 pairs of submetac...

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

    Martins Cesar; Galetti Jr. Pedro Manoel

    1998-01-01

    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 Pa...

  12. Electrophoretic karyotype variation among pathotypes of Fusarium oxysporum f.sp. dianthi

    Migheli, Quirico; Berio, T.; Gullino, Maria Lodovica; Garibaldi, Angelo

    1995-01-01

    Karyotype analysis by pulsed-field gel electrophoresis was applied to characterize isolates of Fusarium oxysporum f.sp. dianthi, the causal agent of Fusarium wilt on carnation. Eleven distinct chromosomal DNA patterns were detected among 38 pathogenic isolates, and the total genome size was estimated to range from 23·7 to 36·4 Mb. Except for isolates belonging to pathotypes 2 and 4, all members of the same pathotype shared overlapping electrophoretic karyotypes. Karyotypes of isolates assigne...

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

    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.

  14. Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

    Mierla Dana

    2015-06-01

    Full Text Available The purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital, Bucharest, Romania, between August 2007 to December 2011. Two thousand, one hundred and ninety-five patients with reproductive problems were investigated, and the frequency of chromosomal abnormalities was calculated. The control group consisting of 87 fertile persons who had two or more children, was investigated in this retrospective study. All the patients of this study were investigated by cytogenetic techniques and the results of the two groups were compared by a two-tailed Fisher’s exact test. In this study, 94.99% patients had a normal karyotype and 5.01% had chromosomal abnormalities (numerical and structural chromosomal abnormalities. In the study group, numerical chromosomal abnormalities were detected in 1.14% of infertile men and 0.62% of infertile women, and structural chromosomal abnormalities were detected in 1.38% of infertile men and 1.87% of infertile women, respectively. The correlation between the incidence of chromosomal anomalies in the two sexes in couple with reproductive problems was not statistically significant. Recently, a possible association between infertility and chromosomal abnormalities with a significant statistical association has been reported. Our study shows that there is no association between chromosomal abnormalities and infertility, but this study needs to be confirmed with further investigations and a larger control group to establish the role of chromosomal abnormalities in the etiology of infertility.

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

    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. PMID:24160850

  16. Root tip chromosome karyotype analysis of hyacinth cultivars.

    Hu, F R; Liu, H H; Wang, F; Bao, R L; Liu, G X

    2015-01-01

    Karyotype analysis in plants helps to reveal the affinity relationships of species and their genetic evolution. The current study aimed to observe chromosome karyotypes and structures of Hyacinthus orientalis. Twenty hyacinth cultivars were introduced from Holland, and their water-cultivated root tips were used as experimental samples. A solution of colchicine (0.02%) and 8-hydroxyquinoline (0.02 M) was used as a 20-h pre-treatment. Subsequently, Carnot I was used for fixation and 45% acetic acid was used for dissociation. The squash method was selected to prepare chromosome spreads for microscopic observation. The basic chromosome number of the hyacinth cultivar was 8, and the number of chromosomes in the diploid, triploid, tetraploid, and aneuploid cultivars was 16, 23, 24, 31, and 32, respectively. The L-type chromosome was predominant in the chromosomal composition. The hyacinth satellite was located on the short arm in numbers equivalent to the ploidy. This satellite is located on the middle-sized chromosome in the fourth group of chromosomes, demonstrating that Hyacinthus has a more primitive evolution than Lilium and Polygonatum. Among 20 hyacinth cultivars, 'Fondant' had the highest level of evolution and a maximum asymmetric coefficient of 61.69%. Moreover, the ratio between the shortest and longest chromosomes in this cultivar was 4.40, and its karyotype was type 2C. This study may elucidate long-term homonym and synonym phenomena. It may also provide a method of cytological identification as well as direct proof of the high outcross compatibility between hyacinth cultivars. PMID:26400314

  17. The genome diversity and karyotype evolution of mammals

    Trifonov Vladimir A

    2011-10-01

    Full Text Available Abstract The past decade has witnessed an explosion of genome sequencing and mapping in evolutionary diverse species. While full genome sequencing of mammals is rapidly progressing, the ability to assemble and align orthologous whole chromosome regions from more than a few species is still not possible. The intense focus on building of comparative maps for companion (dog and cat, laboratory (mice and rat and agricultural (cattle, pig, and horse animals has traditionally been used as a means to understand the underlying basis of disease-related or economically important phenotypes. However, these maps also provide an unprecedented opportunity to use multispecies analysis as a tool for inferring karyotype evolution. Comparative chromosome painting and related techniques are now considered to be the most powerful approaches in comparative genome studies. Homologies can be identified with high accuracy using molecularly defined DNA probes for fluorescence in situ hybridization (FISH on chromosomes of different species. Chromosome painting data are now available for members of nearly all mammalian orders. In most orders, there are species with rates of chromosome evolution that can be considered as 'default' rates. The number of rearrangements that have become fixed in evolutionary history seems comparatively low, bearing in mind the 180 million years of the mammalian radiation. Comparative chromosome maps record the history of karyotype changes that have occurred during evolution. The aim of this review is to provide an overview of these recent advances in our endeavor to decipher the karyotype evolution of mammals by integrating the published results together with some of our latest unpublished results.

  18. The second case of chronic granulocytic leukemia with karyotypic evolution at acute crisis, occurring in so-called Nishiyama district

    The whole process of a second case of chronic granulocytic leukemia in Nishiyama district where a very small amount of radiation existed for a long time was reported together with data measured by a human counter and the results of chromosomal analysis. No significantly high K or 137Cs values were measured by a human counter immediately after the onset. Chromosomal division aberration and chromosomal aberration, which seemed to be induced by radiation, also were not observed. However, granulocytic leukemia was diagnosed after chromosomal analysis of peripheral blood revealed Ph1 chromosomes, white cell count increased, juvenile cells appeared, and basophil cells increased. Clinical features of typical chronic granulocytic leukemia in the exposed were observed during the chronic stage (7 years). In the acute stage, abnormal clones were discovered in all 16 chromosomes analyzed. Much karyotypic evolution identical to that in persons directly exposed to the A-bomb was also observed. (Tsunoda, M.)

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

    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.

  20. The karyotype analysis of Pistacia vera L. from Turkey.

    Ayaz, Emine; Namli, Süreyya

    2009-01-01

    A detailed karyotype analysis was developed for Pistacia vera L. grown in Turkey. In vitro roots obtained from mature seeds were used as plant material. The chromosome number of P. vera L. was found to be 2n = 30 at c-metaphase of mitosis cell investigated for all of the materials. Centromere type of all chromosomes were determinated as median, submedian, subtelocentric, telocentric and total lengths of chromosome pairs were found between 35.4 and 5.97 microm. An idiogram was constructed from the average chromosome length, arm ratio and centomere type for each of the chromosome pairs. PMID:19488926

  1. Hypoplastic left heart syndrome and 45X karyotype.

    van Egmond, H; Orye, E; Van Praet, M.; Coppens, M.; Devloo-Blancquaert, A

    1988-01-01

    A review of 63 patients with 45X karyotype (Turner's syndrome) admitted to a hospital from 1972 to 1985 showed that 20 (32%) had one or more major cardiac malformations (mostly coarctation and aortic stenosis). Four (20%) died in the neonatal. One infant had mitral stenosis and severe aortic stenosis and died at the age of 35 days. The three (15%) other patients who died had a typical hypoplastic left heart syndrome, with an atretic aortic valve in two and pinpoint aortic valve in one. Turner...

  2. Karyotype Analysis in Alburnus heckeli (Battalgil, 1943) from Lake Hazer

    GÜL, Süleyman

    2004-01-01

    Karyotype analysis was performed on Alburnus heckeli (Battalgil, 1943) (Fam: Cyprinidae) by investigating the number and structures of its chromosomes. The fish used in this study were caught with fishing nets in Lake Hazer and were taken to our laboratory. Fish were injected intraperitoneally with doses of 0.01 ml/g body weight of 0.6% colchicine solution and left for 190 min before sacrificing. It was determined by metaphase investigation that A. heckeli has 2n = 50 chromosomes. Its karyoty...

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

    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.

  4. Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities

    Une,Tomoka

    2006-10-01

    Full Text Available Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding alone. Molecular cytogenetic techniques, such as spectral karyotyping (SKY and fluorescence in situ hybridization (FISH, can help to detect chromosomal aberrations precisely. We analyzed the karyotypes in 6 cases of multiple congenital abnormalities and 1 case of spontaneous abortion (case 2. Three cases (cases 1, 6, and 7 had marker chromosomes, and 4 cases (cases 2-5 had chromosomal rearrangements. The karyotypes in cases 1, 2, and 3 were determined using FISH with probes based on the clinical findings and family histories. Spectral karyotyping (SKY analysis in cases 4-7 showed that this method is useful and saves time. The combination of SKY and FISH analyses defi ned the range of the ring chromosome in case 7. We demonstrated that a combination of G-banding, FISH, and SKY can be applied effectively to the investigation of chromosomal rearrangement and to the detection of marker chromosome origins. We suggest the use of these methods for prenatal diagnosis, in which the inherent time limitations are particularly important.

  5. Urine - abnormal color

    The usual color of urine is straw-yellow. Abnormally colored urine may be cloudy, dark, or blood-colored. ... Abnormal urine color may be caused by infection, disease, medicines, or food you eat. Cloudy or milky urine is a sign ...

  6. Pneumonia - adults (community acquired)

    ... breathing (respiratory) condition in which there is an infection of the lung. This article covers community-acquired pneumonia (CAP). This type of pneumonia is found in persons who have not recently been in the hospital or another health care facility such as a ...

  7. Etiopathology of acquired cholesteatoma

    Prabodh Karnik

    2011-01-01

    Full Text Available The etiopathology of acquired cholesteatoma has undergone numerous changes over the past 150 years. However, certain facts stand out with clarity. The presence of cytokeratins in acquired cholesteatoma, which are akin to those found in the tympanic membrane and external auditory canal, shows that these are probably the site of origin of acquired cholesteatoma. The cholesteatoma sac also shows its greatest growth at its tympanic membrane attachment into the middle ear. Implantations of squamous epithelium due to trauma or surgery could be another originating factor. The basic pathology is the formation of papillary cones from the tympanic membrane or external auditory canal, which progress from microcholesteatoma to frank cholesteatoma with keratin collections. There is an altered matrix metalloproteinase pathway. Tumor necrosis factor activation with altered wound healing process contributes to the collateral destruction of bone. Trisomy and aneuploidy of chromosome 8 predispose to cholesteatoma formation in affected individuals. In this article, we present the etiopathology of acquired cholesteatoma as it stands today.

  8. The karyotype of the aberrant obligate antattended mealybug, neochavesia caldasiae (coccoidea: pseudococcidae: rhizoecinae)

    Delabie, J. H. C.; MARIANO, C.S.F.; J.E. Serrão; Pompolo, S. G.

    2012-01-01

    We report information about the structure of the karyotype of the ant-attendedmealybug Neochavesia caldasiae that maintains an obligate association with antsof the genus Acropyga. Seven pairs of holocentric chromosomes (2 = 14) constituteit, with one pair larger that the other six. This number is discussed according the toinformation available about the Pseudococcidae karyotype evolution, focusing theRhizoecinae.

  9. The karyotype of the critically endangered Lear's macaw, Anodorhynchus leari Bonaparte 1856 (Aves, Psittaciformes)

    Denise Monnerat Nogueira; Lucia Moreno de Souza; Beatriz Goldschmidt; Christiano Pinheiro da Silva; Denise Wilches Monsores

    2006-01-01

    We used conventional chromosomal staining to describe the karyotype of the critically endangered Lear's macaw, Anodorhynchus leari Bonaparte 1856. A diploid number of 2n = 70 and a karyotype similar to that of its congener Anodorhynchus hyacinthinus suggests that chromosomal rearrangements were not the main evolutionary mechanism in the genus.

  10. Karyotypes of two species of the genus Pimelodus (Siluriformes, Pimelodidae).

    Treco, Fernando Rodrigo; Dias, Ana Lúcia

    2009-01-01

    A cytogenetic study was conducted on two species of the genus Pimelodus that were collected from the Piquiri river, Paraná, Brazil: Pimelodus paranaensis and Pimelodus heraldoi. Both had a diploid number of 2n=56 chromosomes and a fundamental number (FN) of 104. In P. paranaensis, the karyotype consisted of 22m+22sm+4st+8a chromosomes, whereas the karyotype of P. heraldoi consisted of 18m+24sm+6st+8a. The AgNORs were localized in the terminal region of the long arm in one pair of subtelocentric chromosomes, pair 24 in P. paranaensis and pair 23 in P. heraldoi. The latter species showed size heteromorphism of these regions between the chromosome homologues. Heterochromatin was distributed mainly in the terminal regions in the two species. CMA3-positive staining was observed in some chromosomes, besides being associated with NORs, which were all DAPI-negative, in both species of Pimelodus. C-banding plus CMA3 and DAPI showed that most of the heterochromatic regions were rich in AT bases in P. paranaensis and P. heraldoi. PMID:19459460

  11. An improved method for karyotype analyses of marine algae

    Wang, Juan; Dai, Jixun

    2008-05-01

    Modified carbol fuchsin staining method was successfully introduced into the karyotype analyses of marine algae, including 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°C for 7-8 min 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, spermatangial and conchosporangial cells of Porphyra and the gametophytes of U. pinnatifida 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.

  12. An Improved Method for Karyotype Analyses of Marine Algae

    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.

  13. Description of karyotype in Hypostomus regani (Ihering, 1905) (Teleostei, oricariidae) from the Piumhi river in Brazil with comments on karyotype variation found in Hypostomus

    Ernani de Oliveira Mendes-Neto; Marcelo Ricardo Vicari; Roberto Artoni; Orlando Moreira-Filho

    2011-01-01

    The paper represents a comparative cytogenetic analysis of three populations of Hypostomus regani in Brazil. Two populations belong to the Upper Paraná River Basin and the third one, the karyotype of which is described for the first time, was probably introduced into the São Francisco River Basin through transposition from the Piumhi River. Karyotype features of populations of H. regani from the Piracicaba and Tietê River Basins are also discussed. The occurrence of H. reg...

  14. Acquired cystic kidney disease

    Choyke, P.L. [National Institutes of Health, Bethesda, MD (United States). Dept. of Diagnostic Radiology

    2000-11-01

    Acquired cystic kidney disease (ACKD), also known as acquired renal cystic disease (ARCD,) occurs in patients who are on dialysis for end-stage renal disease. It is generally accepted that ACKD develops as a consequence of sustained uremia and can first manifest even before dialysis is initiated while the patient is still in chronic renal failure. The role of immune suppression, particularly in transplant recipients, in the development of ACKD, is still under investigation. The prevalence of ACKD is directly related to the duration of dialysis and the risk of cancer is directly related to the presence of cysts. Herein we review the current understanding of the pathophysiology and imaging implications of ACKD. (orig.)

  15. Acquired cystic kidney disease

    Acquired cystic kidney disease (ACKD), also known as acquired renal cystic disease (ARCD,) occurs in patients who are on dialysis for end-stage renal disease. It is generally accepted that ACKD develops as a consequence of sustained uremia and can first manifest even before dialysis is initiated while the patient is still in chronic renal failure. The role of immune suppression, particularly in transplant recipients, in the development of ACKD, is still under investigation. The prevalence of ACKD is directly related to the duration of dialysis and the risk of cancer is directly related to the presence of cysts. Herein we review the current understanding of the pathophysiology and imaging implications of ACKD. (orig.)

  16. Acquired epidermolysis bullosa

    Maricel Sucar Batista; Yanier Serrano García; Taimí Miranda Vergara

    2015-01-01

    Epidermolysis bullosa is a group of diseases or skin disorders genetically transmitted and it is characterized by the appearance of bullae, ulcers and skin wounds. It usually appears at birth or in the first months of life. This is a case of a 72-year-old female patient who comes to the dermatology department with skin lesions of 6 months of evolution. A skin biopsy was performed, taking a sample for direct and indirect immunofluorescence. Acquired epidermolysis bullosa of unknown etiology wa...

  17. Acquired hypertrichosis lanuginosa

    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.

  18. AIDS: acquired immunodeficiency syndrome

    Gilmore, N. J.; Beaulieu, R.; Steben, M.; Laverdière, M.

    2002-01-01

    Acquired immunodeficiency syndrome, or AIDS, is a new illness that occurs in previously healthy individuals. It is characterized by immunodeficiency, opportunistic infections and unusual malignant diseases. Life-threatening single or multiple infections with viruses, mycobacteria, fungi or protozoa are common. A rare neoplasm, Kaposi's sarcoma, has developed in approximately one third of patients with AIDS. More than 800 cases of AIDS have been reported in North America, over 24 of them in Ca...

  19. Chromosomal Abnormalities in ADHD

    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.

  20. Chromosomal abnormalities and autism

    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.

  1. Learning-By-Being-Acquired

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

    -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 but is...

  2. Comprehensive Imaging Review of Abnormalities of the Placenta.

    Zaidi, Sadaf F; Moshiri, Mariam; Osman, Sherif; Robinson, Tracy J; Siebert, Joseph R; Bhargava, Puneet; Katz, Douglas S

    2016-03-01

    The placenta has a fundamental role in fetal health and functions as an important bridge to normal fetal development throughout pregnancy. A complete fetal ultrasound (US) survey should include full assessment of the placenta for any possible abnormalities. Placental diseases range from abnormal morphology, size, location, extent, and degree of placentation, to abruption and the presence of rare placental neoplasms of benign or malignant nature. Some of these conditions are associated with other diseases including aneuploidies, and their discovery should alert the radiologist to perform a very thorough fetal US examination. At times, a fetal karyotype may be needed to provide additional information. Timely detection of placental abnormalities can alert the clinician regarding the need to make important management decisions to reduce fetal and maternal morbidity and mortality. Familiarity with the normal and abnormal imaging appearance of the placenta is therefore necessary for the radiologist. Ultrasound with Doppler is the initial imaging modality of choice for placental assessment. Magnetic resonance imaging serves as a problem-solving examination in instances where the US findings are equivocal or where additional information is needed. Computed tomography has a limited role in the evaluation of placental disease because of its relatively limited tissue characterization and in particular because of the resultant direct radiation exposure of the fetus. However, in specific instances, particularly after trauma, computed tomography can provide invaluable information for patient management. PMID:26938032

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

    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.

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

    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.

  5. Acquired epidermolysis bullosa

    Maricel Sucar Batista

    2015-12-01

    Full Text Available Epidermolysis bullosa is a group of diseases or skin disorders genetically transmitted and it is characterized by the appearance of bullae, ulcers and skin wounds. It usually appears at birth or in the first months of life. This is a case of a 72-year-old female patient who comes to the dermatology department with skin lesions of 6 months of evolution. A skin biopsy was performed, taking a sample for direct and indirect immunofluorescence. Acquired epidermolysis bullosa of unknown etiology was diagnosed. Treatment was started with low-dose colchicine to increase it later, according to the patient’s tolerance and disease progression.

  6. Chromosome banding and DNA replication patterns in bird karyotypes.

    Schmid, M; Enderle, E; Schindler, D; Schempp, W

    1989-01-01

    The karyotypes of the domestic chicken (Gallus domesticus), Japanese quail (Coturnix coturnix), and griffon vulture (Gyps fulvus) were studied with a variety of banding techniques. The DNA replication patterns of bird chromosomes, analyzed by incorporation of 5-bromodeoxyuridine (BrdU) and deoxythymidine (dT), are presented here for the first time. In particular, the time sequence of replication of the ZZ/ZW sex chromosomes throughout the S-phase was meticulously analyzed. BrdU and dT incorporation are very useful methods to identify homoeologies between karyotypes, as well as rearrangements that occurred in the macroautosomes during speciation. The Z chromosomes of the three birds displayed the same replication patterns, indicating a high degree of evolutionary conservation. In the homogametic male, BrdU and dT incorporation revealed no evidence of asynchronous replication between euchromatic bands in the ZZ pair. The same was true of the three Z chromosomes in a triploid-diploid chimeric chicken embryo. Minor replication asynchronies between the homologous ZZ or ZZZ chromosomes were restricted to heterochromatic C-bands. These results confirm that, in the ZZ male/ZW female sex-determining system of birds, dosage compensation for Z-linked genes does not occur by inactivation of one of the two Z chromosomes in the homogametic male. The heterochromatic W chromosomes of the three species showed bright labeling with distamycin A/mithramycin counterstain-enhanced fluorescence and exhibited significantly delayed DNA replication. The nucleolus organizers of birds, frequently located in microchromosomes, were also distinguished by bright distamycin A/mithramycin fluorescence. PMID:2630186

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

    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.

  8. 30例体外受精-胚胎移植后流产绒毛原代培养及染色体核型分析%Primary culture of villi in 30 cases of spontaneous abortion after in vitro fertilization -embryo transfer and analysis on chromosomal karyotype

    何国平; 刘雨生; 童先宏; 周桂香; 宋雅娴; 骆丽华; 陈玲; 胡美虹

    2011-01-01

    目的:分析30例体外受精-胚胎移植(IVF-ET)流产胚胎绒毛染色体核型组成,探讨流产原因.方法:收集30例IVF-ET流产胚胎绒毛,行体外原代培养、染色体制备及核型分析.观察既往不同流产次数对胚胎绒毛染色体异常率的影响;按流产胚胎性别,分析性别差异与染色体异常率间的关系.结果:30例IVF-ET流产胚胎绒毛体外培养成功30例,成功率100%.30例标本中染色体异常核趔20例,占66.70%,其中三体核型14例,21单体型1例,多倍体1例,嵌合体2例,其他异常核型2例.单次流产史患者13例,胚胎异常核型9例(69.23%);反复流产(≥2次)史患者17例,胚胎异常核型11例(64.71%),两组间比较无显著性差异.14例男胎中异常核型10例,占71.42%;15例女胎中异常核型9例,占60.00%,两组比较差异有统计学意义(P<0.05).结论:胚胎染色体异常是IVF-ET早期自然流产的主要原因,绒毛染色体检查对寻找IVF-ET失败原因具有重要的指导意义.%Objective: To analyze the composition of chromosomal karyotype of villi in 30 cases of spontaneous abortion after in vitro fertilization- embryo transfer (IVF -ET), explore the causes of abortion. Methods: The villus tissues of 30 cases of spontaneous abortion after IVF - ET were collected, then primary culture in vitro, chromosomal preparation and karyotype analysis were performed; the effect of abortion times on incidence of chromosomal abnormality in villi was observed; the relationship between gender difference and incidence of chromosomal abnormality was analyzed according to embryo sex. Results: The success rate of primary culture of villi in vitro was 100%; 20 cases were found with abnormal chromosomal karyotype, accounting for 66. 70%, including 14 cases of trisome karyotype, 1 case of 21 monosome karyotype, 1 case of polyploidy karyotype, 2 cases of chimera karyotype and 2 cases of other abnormal karyotype; 13 cases had the history of abortion once, 9 cases were

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

    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.

  10. Chromosome Structural Alteration an Unusual Abnormality Characterizing Human Neoplasia

    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.

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

    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. PMID:24132905

  12. Karyology of the Atlantic forest rodent Juliomys (Cricetidae): A new karyotype from southern Brazil

    Roberta Paresque; Alexandre Uarth Christoff; Valéria Fagundes

    2009-01-01

    Juliomys is a small rodent from the family Cricetidae which inhabits the Atlantic forest and forests from Argentina to eastern Brazil. The three species recognized so far have different karyotypes. In this paper, we describe a new karyotype with 2n = 32, FN = 48 found in Juliomys specimens from a high-altitude area in the Atlantic forest of southern Brazil. The karyotype was analyzed after G- and C-banding and silver staining of the nucleolus organizer regions (Ag-NOR) and its G-banding patte...

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

    Carlos M Baeza; Gloria Rojas; Eduardo Ruiz

    2011-01-01

    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 % = ...

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

    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

  15. Pathology of the thoracic wall: congenital and acquired

    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.)

  16. 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

    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

  17. Neurological abnormalities predict disability

    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...... at evaluating age-related white matter changes (ARWMC) as an independent predictor of the transition to disability (according to Instrumental Activities of Daily Living scale) or death in independent elderly subjects that were followed up for 3 years. At baseline, a standardized neurological examination...... abnormality independently predicted transition to disability or death [HR (95 % CI) 1.53 (1.01-2.34)]. The hazard increased with increasing number of abnormalities. Among MRI lesions, only ARWMC of severe grade independently predicted disability or death [HR (95 % CI) 2.18 (1.37-3.48)]. In our cohort...

  18. Screening for fetal chromosome abnormalities during the second trimester

    Objective: To develop a pre -natal screening program for fetal chromosome abnormalities based on risk values calculated from maternal serum markers levels during the second trimester. Methods: Serum levels of AFP, β-HCG, uE3 were determined with CLIA in 1048 pregnant women during 14-21w gestation period and the results were analyzed with a specific software (screening program for Down' s syndrome developed by Beckman) for the risk rate. In those women defined as being of high risk rate, cells from amniotic fluid or umbilical cord blood were studied for karyotype analysis. Results: Of these 1048 women, 77 were designated as being of high risk rate for several chromosome abnormalities i.e. Down's syndrome, open spina bifida and trisomy -18 syndrome (overall positive rate 7.3%). Further fetal chromosome study in 31 of them revealed three proven cases of abnormality. Another cord blood study was performed in a calculated low risk rate case but with abnormal sonographic finding at 31 w gestation and proved to be abnormal (software study false negative). The remaining 46 high risk rate cases either refused future study (n=35) or were lost for follow-up (n=11). Fortunately, all the 35 women refused further study gave birth to normal babies without any chromosome abnormalities discovered on peripheral blood study. Besides, in a trial study, five high risk rate women were again evaluated a few weeks later but with tremendous difference between the results. Conclusion: The present program proves to be clinically useful but needs further study and revision. Many factors may influence the result of the analysis and the duration of gestation period in weeks should be as accurate as possible. At present, in order to avoid getting false negatives, we don't advise a second check in 'high risk' cases. (authors)

  19. Cytogenetic abnormalities and genomic copy number variations in EPO (7q22) and SEC-61(7p11) genes in primary myelodysplastic syndromes.

    Mohanty, Purvi; Korgaonkar, Seema; Shanmukhaiah, Chandrakala; Ghosh, Kanjaksha; Vundinti, Babu Rao

    2016-07-01

    Myelodysplastic syndromes (MDSs) are heterogeneous clonal haematopoeitic stem cell disorders characterized by ineffective haematopoeisis, cytopenias and risk of progression to AML. We studied 150 MDS patients for cytogenetic aberrations and 60 patients with normal karyotype and 40 patients harboring cytogenetic abnormalities for copy number variations (CNVs). Cytogenetic abnormalities were detected in 46% of patients with a majority of patients harboring abnormalities of chromosome 7 and del (20q) at frequencies of 16% and 12% respectively. We explored the potential of quantitative multiplex PCR assay of short fluorescent fragments (QMPSF) to identify CNVs and correlated the findings with cytogenetic data and disease prognosis. CNVs (n=31) were detected in 28.3% of karyotypically normal and 23% patients with abnormal karyotype. Genetic losses or deletions (n=26) were more frequent than duplications (n=5). EPO (7q22) and SEC-61(7p11) emerged as new candidate genes susceptible to genetic losses with 57.7% deletions identified in regions on chromosome 7. The CNVs correlated with International Prognostic Scoring System (IPSS) intermediate disease risk group. Our integrative cytogenetic and copy number variation study suggests that abnormalities of chromosome 7 are predominant in Indian population and that they may play a secondary role in disease progression and should be evaluated further for asserting their clinical significance and influence on disease prognosis. PMID:27282568

  20. Acquired Blaschkoid dermatitis

    Mercy P

    2007-01-01

    Full Text Available Acquired Blaschkoid dermatitis characterised by unilateral relapsing inflammatory disease along the lines of Blaschko. A 40-year-old Indian male presented with unilateral erythematous, itchy grouped papules on the left side of the chest, abdomen, back and left arm of 15 days duration. The eruption stopped abruptly at the midline of the torso, completely sparing the right side of the body. The lesions were arranged in whorls and streaks corresponding to the lines of Blaschko. Skin biopsy showed hyperkeratosis and features suggestive of sub-acute spongiotic dermatitis with lymphocytic infiltrate around the blood vessels in the dermis. Patient was diagnosed as a case of Blaschkoid dermatitis. To the best of our knowledge, this is the first case of this condition being reported from India.

  1. Karyotype characteristic of elderly patients with acute leukemia%老年急性白血病患者的染色体核型分析

    刘辉; 常乃柏; 裴蕾; 宁尚勇; 李江涛; 邢宝利; 许小东

    2011-01-01

    目的 探讨急性白血病患者的染色体核型分布特征及不同年龄组患者染色体预后分层特征.方法 采用骨髓短期培养和G显带技术对215例急性白血病患者进行染色体核型分析.结果 215例患者中,有足够可供分析分裂相者202例,检出异常克隆149例(73.8%),各年龄组异常克隆检出率分别为,≤30岁组73.0%(27/37),31~59岁组74.4%(64/86),≥60岁组73.4%(58/79),各年龄组异常克隆检出率差异无统计学意义(P=0.982).在检出分裂相的171例急性髓性白血病(AML)患者中,预后良好核型41例(24.0%),预后中等核型80例(46.8%),预后不良核型50例(29.2%);预后良好核型中以t(15;17)最多(占65.9%);预后中等核型中以正常核型为主(占53.8%);预后不良核型中以复杂异常为主(占84.0%).≤30岁组预后良好、中等及不良染色体核型所占百分比分别为50.0%、36.4%和13.6%;31~59岁组分别为24.3%、48.7%和27.0%;≥60组分别为16.0%、48.0%和36.0%.≤30岁组预后良好核型所占比例较其他两组高(分别为P=0.021和0.001),≥60岁组预后不良核型所占比例高于≤30岁组(P=0.046).29例急性淋巴细胞白血病(ALL)患者具有预后不良核型者10例.结论 急性白血病患者染色体核型分析可为预后分层提供重要依据,AML患者随着年龄增长预后不良核型比例逐渐增高.%Objective To explore the karyotype distribution in elderly patients with acute leukemia (AL) and compare the prognostic characteristics of karyotype by age grouping.Methods Chromosomal karyotypes were analyzed in 215 cases with AL using the short-term culture of bone marrow cells and G-banding technique.Results There were 202 cases with enough mitosis for analysis and 149 cases(73.8%)with abnormal clone in 215 patients with AL.The rates of abnormal clone were 73.0% (27/37),74.4%(64/86) and 73.4% (58/79) in patients aged ≤30,31-59 and ≥60 years

  2. Analysis on chromosomal karyotypes of 616 trial subjects%616名受试者染色体核型的分析

    苏强; 张晓延; 李娅亨; 李梅; 高艳萍

    2016-01-01

    目的 分析616名受检者染色体核型,探讨染色体异常类型及发生风险.方法 回顾性分析2014年3月17日-2015年6月8日在北京某医院产前诊断中心进行细胞遗传学染色体核型诊断的616名自愿受检者资料及染色体核型检测结果,统计各类核型染色体异常率与构成比,并对不同性别染色体异常的检出率进行比较.结果 在616份外周血标本中染色体异常36人,异常率为5.84%;染色体多态性变异79人(12.82%).在染色体异常核型中,常染色体异常27人(4.38%),性染色体异常9人(1.46%);染色体数目异常者15人,染色体结构异常者21人,发生率分别为2.44%、3.41%;平衡易位和罗伯逊易位发生率分别为1.79% (11/616)、0.49% (3/616),有8种罕见常染色体平衡易位的核型.不同性别之间染色体异常率差异无统计学意义(x2 =0.010,P=0.969),不同性别之间染色体正常多态发生率差异有统计学意义(x2=7.211,P=0.007),男性组正常多态发生率是女性组的1.8倍.结论 我国一般人群存在染色体异常风险,且不同性别之间染色体正常多态发生率差异有统计学意义.%Objective To analyze chromosomal karyotypes of 616 trial subjects,explore the types of chromosomal abnormalities and risk.Methods The data and detection results of chromosomal karyotypes of 616 trial subjects receiving cytogenetic chromosomal karyotyping in Center of Prenatal Diagnosis in a hospital in Beijing from March 17,2014 to June 8,2015 were analyzed retrospectively.The rate and proporfon of chromosomal abnormalities of different karyotypes were analyzed statistically,the detection rates of chromosomal abnormalities were compared between boys and girls.Results Among 616 peripheral blood samples,36 cases were diagnosed as chromosomal abnormalities,the rate was 5.84%,79 cases (12.82%) were found with chromosomal polymorphism.Among the cases with abnormal chromosomal karyotypes,27 cases (4.38%) were

  3. Is there a relationship between sperm chromosome abnormalities and sperm morphology?

    Ko Evelyn

    2006-01-01

    Full Text Available Abstract This review explores the relationship between sperm chromosomal constitution and morphology. With the advent of techniques for obtaining information on the chromosome complements of spermatozoa, this relationship has been studied in fertile men and in men with a high frequency of chromosomal abnormalities. Using human sperm karyotype analysis, no relationship between sperm chromosome abnormalities and morphology was found in fertile men, translocation carriers or post-radiotherapy cancer patients. Fluorescence in situ hybridization (FISH analysis has not generally revealed a specific association between morphologically abnormal sperm and sperm chromosome abnormalities, but has indicated that teratozoospermia, like other forms of abnormal semen profiles (aesthenozoospermia, oligozoospermia is associated with a modest increase in the frequency of sperm chromosome abnormalities. However, FISH studies on some infertile men and mouse strains have suggested that certain types of morphologically abnormal spermatozoa, such as macrocephalic multitailed spermatozoa, are associated with a very significantly increased frequency of aneuploidy. Thus, there may be an association between sperm morphology and aneuploidy in infertile men with specific abnormalities.

  4. CT of pleural abnormalities

    Briefly discussed were CT diagnosis of pleural thickening, CT technique for examining the pleura or pleuro-pulmonary disease, diagnosis of pleural collections, diagnosis of pleural fluid abnormalities in patients with pneumonia, pleural neoplasms, malignant (diffuse) mesothelioma, metastases, local fibrous tumor of the pleura (benign mesothelioma) (21 refs.)

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

    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

  6. Karyotype analysis of an endemic sucker catfish, Glyptothorax silviae Coad,1981 (Actinopterygii: Sisoridae), from Iran

    Esmaeili, Hamid Reza; Gholami, Zeinab; NAZARI, Narges; GHOLAMIFARD, Ali

    2009-01-01

    The karyotypic and cytogenetic characteristics of southern catfish, Glyptothorax silviae Coad, 1981, was investigated for the first time by examining metaphase chromosome spreads obtained from gill epithelial and kidney cells. The diploid chromosome number of this species was 2n = 52. The karyotype consisted of 9 pairs of metacentric, 14 pairs of submetacentric, and 3 pairs of subtelocentric chromosomes. The arm number was 98. No heteromorphic sex chromosomes were cytologically detected in th...

  7. Karyotype variability in neotropical catfishes of the family Pimelodidae (Teleostei: Siluriformes)

    Américo Moraes Neto; Maelin da Silva; Daniele Aparecida Matoso; Marcelo Ricardo Vicari; Mara Cristina de Almeida; Maria João Collares-Pereira; Roberto Ferreira Artoni

    2011-01-01

    Karyotypic data are presented for four species of fish belonging to the Pimelodidae family. These species show a conserved diploid number, 2n = 56 chromosomes, with different karyotypic formulae. The analyzed species showed little amount of heterochromatin located preferentially in the centromeric and telomeric regions of some chromosomes. The nucleolus organizer regions activity (Ag-NORs) and the chromosomal location of ribosomal genes by fluorescent in situ hybridization (FISH), with 18S an...

  8. Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome.

    Gøtzsche, C O; Krag-Olsen, B; Nielsen, J.(Santa Cruz Institute for Particle Physics, University of California Santa Cruz, Santa Cruz, CA, United States); Sørensen, K E; Kristensen, B O

    1994-01-01

    The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echocardiography including Doppler were performed. The distribution of the various karyotypes was 45,X, 5...

  9. Karyotype asymmetry: again, how to measure and what to measure?

    Lorenzo Peruzzi; Halil Eroglu

    2013-01-01

    One of the most popular, cheap and widely used approaches in comparative cytogenetics – especially by botanists – is that concerning intrachromosomal and interchromosomal karyotype asymmetry. Currently, there is no clear indication of which method, among the many different ones reported in literature, is the most adequate to infer karyotype asymmetry (especially intrachromosomal), above all in view of the criticisms recently moved to the most recent proposal published. This work a...

  10. Karyotype variation is indicative of subgenomic and ecotypic differentiation in switchgrass

    Young Hugh A; Sarath Gautam; Tobias Christian M

    2012-01-01

    Abstract Background Karyotypes can provide information about taxonomic relationships, genetic aberrations, and the evolutionary origins of species. However, differentiation of the tiny chromosomes of switchgrass (Panicum virgatum L.) and creation of a standard karyotype for this bioenergy crop has not been accomplished due to lack of distinguishing features and polyploidy. Results A cytogenetic study was conducted on a dihaploid individual (2n = 2X = 18) of switchgrass to establish a chromoso...

  11. Karyotype Analysis of the New Catfish Mystus ngasep (Siluriformes: Bagridae) from Manipur, India

    Singh, Sukham Sanjabihari; Singh, Chingakham Brajakishor; WAIKHOM, Gusheinzed

    2013-01-01

    Karyotypic and cytogenetic characteristics of catfish Mystus ngasep, a new species of bagrid catfish described from the Northeast India, Manipur was studied for the first time by examining 200 metaphase spreads chromosome from the kidney cells of 25 healthy specimens. The diploid chromosome number of this species was 2n=56 and the total fundamental arm number was determined as NF=90. The karyotype consisted of 12 Metacentric (m), 22 Submetacentric (Sm), 8 Subtelocentric (St) and 14 Teloce...

  12. Intercontrole acquiring by Framatome

    The Framatome group, as the worldwide leader in nuclear power plant construction, has reinforced his competences in nuclear services thanks to the acquiring of the Intercontrole company, specialized in non-destructive testing in nuclear and industrial environments. After a presentation of the functioning principle and of the safety aspects of a PWR reactor, this press dossier presents in a first part the role of nuclear services and in particular of non-destructive testing in nuclear power plants (in-service inspection, regulatory aspects, testing processes). This part is illustrated with some examples of inspection performed on some components of the primary coolant loop (steam generators, reactor vessel, pressurizer, pipes, primary pumps). A second part presents the technical centres and units of Framatome in charge of performing non-destructive inspections, while a third part describes the industrial policy and strategy of the group in this domain (market of nuclear park maintenance in France, in the USA and worldwide, creation of the 'inspection and control' centre of Framatome). A last part presents the activities of the Intercontrole company and of its daughter companies with some examples of actions realized in the nuclear and natural gas domains. (J.S.)

  13. Karyotype relationships among Anastrepha bistrigata, A. striata and A. serpentina (Diptera, Tephritidae

    Denise Selivon

    2007-01-01

    Full Text Available The species of Anastrepha are arranged into 17 intrageneric groups. Recently, it was proposed that two species of the striata group, Anastrepha striata and A. bistrigata, might be realocated to serpentina group. Anastrepha bistrigata and A. serpentina have an X1X2Y/X1X1 X2X2 sex chromosome system while A. striata has a XY/XX system. It was previously proposed that the karyotype of A. bistrigata could be derived from that of A. striata by an Y:A fusion, and that the karyotype of A. serpentina would be derived from another, hypothetical karyotype. In the present report sequential staining with DAPI and chromomycin A3 (CMA3, followed by C-banding, revealed that the C-banded heterochromatic blocks of the sex chromosomes of A. bistrigata have different affinities to fluorochromes in comparison to the chromosomes of A. striata, from which they have hypothetically derived. The chromosomes of A. serpentina show substantial differences in their cytochemical properties compared to their A. bistrigata and A. striata counterparts. The FISH technique showed that the ribosomal gene sequences are located in DAPI- or DAPI/CMA3-positive heterochromatic blocks of the sex chromosomes, one site on the Y chromosome and one site on the X chromosome (X1 in A. bistrigata and A. serpentina. The data suggest that the karyotype of A. striata and A. bistrigata could be derived from a common ancestral karyotype, while the A. serpentina karyotype probably has a distinct origin.

  14. Acquired Factor VIII Inhibitors: Three Cases

    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.

  15. Chromosome karyotype analysis of chorionic villi in 84 patients with early spontaneous abortion%84例自然流产绒毛细胞培养及染色体核型分析

    沈素岩; 张金艳

    2016-01-01

    目的:探讨自然流产患者绒毛细胞培养及染色体核型分析的重要性及临床意义,为下次妊娠做出指导。方法:对84例患者在无菌条件下取绒毛组织,进行细胞培养及染色体核型分析。结果:实施染色体核型分析的患者84例,女胎明显多于男胎,有统计学意义;异常核型43例,正常核型41例,二者男女性别比例无统计学意义;异常核型以染色体数目异常为主(83.72%),以三体最常见(58.33%)。结论:绒毛细胞培养染色体核型分析具有临床意义,对下次妊娠指导起了重要作用,为优生工作的开展提供了重要指标。%Objective:To investigate the importance and clinical significance of chromosome karyotype analysis from chorionic villi in patients with spontaneous abortion, and to provide guidance for the next pregnancy.Methods:chorionic villi cultivation and chromosome karyotype analysis were done from 84 cases of spontaneous abortion.Results:Among 84 cases of fetus, the female fetal were significantly more than male fetal, with statistical significance.43 cases of abnormal karyotype and 41 cases with normal karyotype were checked out. The ratio of sex had no statistical significance;Numerical abnormality was the majar part of chromosome abnormality (83.72%),and the most common cases were autosomal trisomies (58.33%).Conclusion: Chromosome karyotype analysis from chorionic villi has clinical significance.And it had important function for the next pregnancy guidance.It could provide the important index for the development of the eugenic work.

  16. Impact of SNP array karyotyping on the diagnosis and the outcome of chronic myelomonocytic leukemia with low risk cytogenetic features or no metaphases.

    Palomo, Laura; Xicoy, Blanca; Garcia, Olga; Mallo, Mar; Ademà, Vera; Cabezón, Marta; Arnan, Montse; Pomares, Helena; José Larrayoz, María; José Calasanz, María; Maciejewski, Jaroslaw P; Huang, Dayong; Shih, Lee-Yung; Ogawa, Seishi; Cervera, Jose; Such, Esperanza; Coll, Rosa; Grau, Javier; Solé, Francesc; Zamora, Lurdes

    2016-02-01

    Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic disorder with heterogeneous clinical, morphological and genetic characteristics. Clonal cytogenetic abnormalities are found in 20-30% of patients with CMML. Patients with low risk cytogenetic features (normal karyotype and isolated loss of Y chromosome) account for ∼80% of CMML patients and often fall into the low risk categories of CMML prognostic scores. We hypothesized that single nucleotide polymorphism arrays (SNP-A) karyotyping could detect cryptic chromosomal alterations with prognostic impact in these subgroup of patients. SNP-A were performed at diagnosis in 128 CMML patients with low risk karyotypes or uninformative results for conventional G-banding cytogenetics (CC). Copy number alterations (CNAs) and regions of copy number neutral loss of heterozygosity (CNN-LOH) were detected in 67% of patients. Recurrent CNAs included gains in regions 8p12 and 21q22 as well as losses in 10q21.1 and 12p13.2. Interstitial CNN-LOHs were recurrently detected in the following regions: 4q24-4q35, 7q32.1-7q36.3, and 11q13.3-11q25. Statistical analysis showed that some of the alterations detected by SNP-A associated with the patients' outcome. A shortened overall survival (OS) and progression free survival (PFS) was observed in cases where the affected size of the genome (considering CNAs and CNN-LOHs) was >11 Mb. In addition, presence of interstitial CNN-LOH was predictive of poor OS. Presence of CNAs (≥1) associated with poorer OS and PFS in the patients with myeloproliferative CMML. Overall, SNP-A analysis increased the diagnostic yield in patients with low risk cytogenetic features or uninformative CC and added prognostic value to this subset of patients. PMID:26509444

  17. Multicolor karyotype analyses of mouse embryonic stem cells.

    Guo, Jianli; Jauch, Anna; Heidi, Holtgreve-Grez; Schoell, Brigitte; Erz, Dorothee; Schrank, Martina; Janssen, Johannes W G

    2005-01-01

    The manipulation of embryonic stem (ES) cells to introduce directional genetic changes into the genome of mice has become an important tool in biomedical research. Monitoring of cell morphology before and after DNA manipulation and special culture conditions are a prerequisite to preserve the pluripotent properties of ES cells and thus their ability to generate chimera and effective germline transmission (GLT). It has been reported that prolonged cell culturing may affect the diploid chromosomal composition of cells and therefore the percentage of chimerism and GLT. Herein, we report multicolor-fluorescence in situ hybridization (M-FISH) analysis of four different ES cell lines/clones. Although the morphology of all four ES cell lines/clones appeared normal and all four expressed the early markers Oct-3/4 and Nanog, two cell lines presented consistent numerical and structural chromosome aberrations. We demonstrate that M-FISH is a sensitive and accurate method for a comprehensive karyotype analysis of ES cells and may minimize time, costs, and disappointments due to inadequate ES cell sources. PMID:16409114

  18. Atlantic moonfishes: independent pathways of karyotypic and morphological differentiation

    Jacobina, Uedson Pereira; Vicari, Marcelo Ricardo; Martinez, Pablo Ariel; de Bello Cioffi, Marcelo; Bertollo, Luiz Antonio Carlos; Molina, Wagner Franco

    2013-09-01

    Fish of the genus Selene, known as lookdowns or moonfish, are one of the most morphologically derived groups of the family Carangidae, whose phylogenetic relationships are still largely unknown. In this study, we discuss karyoevolutionary aspects of three representatives of this genus from the Western Atlantic: Selene brownii (2 n = 48; FN = 48) , Selene setapinnis (2 n = 46; FN = 48), and Selene vomer (2 n = 48; FN = 50). Their body patterns were also investigated and compared to one another and in relation to two other species of different genera. Two mechanisms of karyotypic evolution seem to have acted in the diversification of this genus, namely pericentric inversions and centric fusions. Mapping of rDNA sequences showed that chromosome pairs bearing 5S rDNA sites are similar, whereas those bearing 18 rDNA sites are morphologically distinct while apparently also exhibiting interspecies synteny. Although the nucleolar organizer-bearing chromosomes are extremely efficient cytotaxonomic markers among Selene species, others cytogenetic patterns of these species are relatively conserved. Hybridization with telomeric probes (TTAGGG)n did not exhibit interstitial telomeric sites (ITS), especially in S. setapinnis, where, along with a reduction in diploid number, a large metacentric pair derived from centric fusion is present. Data obtained by geometric morphometrics enable a clear morphological distinction among the three species, as well as in relation to two other species of the genus Caranx and Oligoplites. Data obtained suggest that morphologic evolution in Selene species was primarily dissociated from visible changes that occurred at the chromosomal level.

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

    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.

  20. Sensorial abnormalities: Smell and taste

    Palheta Neto, Francisco Xavier

    2011-07-01

    Full Text Available Introduction: Taste and smell abnormalities have proven to be an extremely more complex subject than previously regarded. Wide-ranging nosologic entities arise along with smell and taste alterations, and they can be congenital or acquired. Objective: Analyze the main features of smell and taste dysfunctions. Method: Automated databases were used to collect data, by searching keywords like 'alteration', 'smell', and 'taste'. A non-systematic search was also made in scientific printings and medical books. Literature Review: Smell and taste dysfunctions have a vast etiology, the most significant of which are obstructive nasal and sinusal disease, infections of the upper respiratory tract, cranioencephalic trauma, aging, exposure to toxics and some drugs, nasal or intracranial neoplasias, psychiatric and neurological pathologies, iatrogenic disease, idiopathic and congenital causes. A detailed anamnesis, a careful physical examination and supplementary evaluations are important for the diagnosis of these alterations. Conclusion: As a rule, smell and taste dysfunctions occur in a combined way. The early discovery of such dysfunctions can lead to a more efficient treatment, making the progress of diseases causing them retard and the symptoms less severe. In many cases, treating these alterations is not easy and there needs to be a multidisciplinary cooperation among the otorhinolaryngologist, endocrinologist, neurologist, psychiatrist, among others.

  1. Proliferation, differentiation, and possible radiation-induced chromosome abnormalities in circulating hemopoietic stem cells

    The effects of atomic bomb radiation on hemopoietic stem cells were studied cytogenetically and from the aspect of differentiation and proliferation, using single colonies derived from human hemopoietic stem cells. The subjects studied were A-bomb survivors in the high dose exposure group (T65D 100 + rad) with a high incidence (10 % or more) of radiation-induced chromosome abnormalities in their peripheral lymphocytes, and their controls. Examinations were performed on 21 A-bomb survivors (10 males and 11 females) and 11 controls (5 males and 6 females). Colony formation of hemopoietic stem cells (granulocyte/monocyte-colony-forming cells, GM-CFC and burst-forming unit-erythrocytes, BFU-E) was made by the methylcellulose method patterned after the methods of Iscove et al and Ogawa et al using 5 - 10 ml of peripheral blood. Chromosome specimens were prepared from single colonies by the micromethod which we have reported elsewhere. The total number of colonies analyzed in the exposed group was 131 GM-CFC and 75 BFU-E. Chromosome abnormalities were observed in 15 (11.5 %) and 9 (12.0 %) colonies, respectively. In the control group, the total number of colonies analyzed was 61 GM-CFC and 41 BFU-E, but none of the colonies showed chromosome abnormalities. A highly significant difference in chromosome abnormalities was demonstrated by an exact test with a probability of 0.3 % for GM-CFC and 1.7 % for BFU-E. The karyotypes of chromosome abnormalities obtained from the colonies of hemopoietic stem cells in the exposed group were mostly translocations, but deletion and marker chromosomes were also observed. In two individuals, such karyotypic abnormalities as observed in the peripheral lymphocytes were seen also in the hemopoietic precursor cells. This finding suggests that radiation may produce an effect even on relatively undifferentiated hemopoietic stem cells. (author)

  2. Abnormal ionization in sonoluminescence

    张文娟; 安宇

    2015-01-01

    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.

  3. Ultrasonography of splenic abnormalities

    Ming-Jen Chen; Ming-Jer Huang; Wen-Hsiung Chang; Tsang-En Wang; Horng-Yuan Wang; Cheng-Hsin Chu; Shee-Chan Lin; Shou-Chuan Shih

    2005-01-01

    AIM: This report gives a comprehensive overview of ultrasonography of splenic abnormalities. Certain ultrasonic features are also discussed with pathologic correlation.METHODS: We review the typical ultrasonic characteristics of a wide range of splenic lesions, illustrating them with images obtained in our institution from 2000 to 2003.One hundred and three patients (47 men, 56 women),with a mean age of 54 years (range 9-92 years), were found to have an abnormal ultrasonic pattern of spleen.RESULTS: We describe the ultrasonic features of various splenic lesions such as accessory spleen, splenomegaly,cysts, cavernous hemangiomas, lymphomas, abscesses,metastatic tumors, splenic infarctions, hematomas, and rupture, based on traditional gray-scale and color Doppler sonography.CONCLUSION: Ultrasound is a widely available, noninvasive,and useful means of diagnosing splenic abnormalities. A combination of ultrasonic characteristics and clinical data may provide an accurate diagnosis. If the US appearance alone is not enough, US may also be used to guide biopsy of suspicious lesions.

  4. Combined Use of Cytogenetic and Molecular Methods in Prenatal Diagnostics of Chromosomal Abnormalities

    Stomornjak-Vukadin, Meliha; Kurtovic-Basic, Ilvana; Mehinovic, Lejla; Konjhodzic, Rijad

    2015-01-01

    Aim: The aim of prenatal diagnostics is to provide information of the genetic abnormalities of the fetus early enough for the termination of pregnancy to be possible. Chromosomal abnormalities can be detected in an unborn child through the use of cytogenetic, molecular- cytogenetic and molecular methods. In between them, central spot is still occupied by cytogenetic methods. In cases where use of such methods is not informative enough, one or more molecular cytogenetic methods can be used for further clarification. Combined use of the mentioned methods improves the quality of the final findings in the diagnostics of chromosomal abnormalities, with classical cytogenetic methods still occupying the central spot. Material and methods: Conducted research represent retrospective-prospective study of a four year period, from 2008 through 2011. In the period stated, 1319 karyotyping from amniotic fluid were conducted, along with 146 FISH analysis. Results: Karyotyping had detected 20 numerical and 18 structural aberrations in that period. Most common observed numerical aberration were Down syndrome (75%), Klinefelter syndrome (10%), Edwards syndrome, double Y syndrome and triploidy (5% each). Within observed structural aberrations more common were balanced chromosomal aberrations then non balanced ones. Most common balanced structural aberrations were as follows: reciprocal translocations (60%), Robertson translocations (13.3%), chromosomal inversions, duplications and balanced de novo chromosomal rearrangements (6.6% each). Conclusion: With non- balanced aberrations observed in the samples of amniotic fluid, non- balanced translocations, deletions and derived chromosomes were equally represented. Number of detected aneuploidies with FISH, prior to obtaining results with karyotyping, were 6. PMID:26005269

  5. Dual-Positive (CD4+/CD8+ Acute Adult T-Cell Leukemia/Lymphoma Associated with Complex Karyotype and Refractory Hypercalcemia: Case Report and Literature Review

    Shahzad Raza

    2010-12-01

    Full Text Available We describe a rare case of adult T-cell leukemia characterized by an expansion of CD4+ CD8+ double-positive lymphocytes associated with human T-lymphotropic virus type 1 (HTLV-1 and a complex karyotype in a 43-year-old Caribbean male who was initially admitted to our hospital with significant lethargy, visual disturbances, dysphagia, right facial palsy and numbness in both feet for 3 days. He was found to have severe hypercalcemia (15.6 mg/dl. Peripheral blood smear showed multilobulated clover-shaped nuclei. Bone marrow and CSF flow cytometries revealed abnormal monoclonal expansion of T cells positive for CD4, CD5, CD8 and CD25 but negative for CD7, CD20, CD56, CD68 and terminal deoxynucleotidyl transferase. The polymerase chain reaction analysis showed a distinct band of the T-cell receptor γ gene, revealing T-cell clonal integration of the proviral DNA of HTLV-1, thus confirming the diagnosis of acute adult T-cell leukemia/lymphoma. Cytogenetic study revealed a male karyotype with monosomy 12, unbalanced translocation 5q and 13q and additional material on 5q, 7q, 14q and 17q. The patient underwent prednisone (EPOCH chemotherapy followed by autologous transplantation with BEAM regimen. Although patients with a rare mixed CD4+ CD8+ immunophenotype usually present with an aggressive clinical course and have a poor prognosis, our patient was able to survive for 2.5 years.

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

    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

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

    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...

  8. Genome size, karyotype polymorphism and chromosomal evolution in Trypanosoma cruzi.

    Renata T Souza

    Full Text Available BACKGROUND: The Trypanosoma cruzi genome was sequenced from a hybrid strain (CL Brener. However, high allelic variation and the repetitive nature of the genome have prevented the complete linear sequence of chromosomes being determined. Determining the full complement of chromosomes and establishing syntenic groups will be important in defining the structure of T. cruzi chromosomes. A large amount of information is now available for T. cruzi and Trypanosoma brucei, providing the opportunity to compare and describe the overall patterns of chromosomal evolution in these parasites. METHODOLOGY/PRINCIPAL FINDINGS: The genome sizes, repetitive DNA contents, and the numbers and sizes of chromosomes of nine strains of T. cruzi from four lineages (TcI, TcII, TcV and TcVI were determined. The genome of the TcI group was statistically smaller than other lineages, with the exception of the TcI isolate Tc1161 (José-IMT. Satellite DNA content was correlated with genome size for all isolates, but this was not accompanied by simultaneous amplification of retrotransposons. Regardless of chromosomal polymorphism, large syntenic groups are conserved among T. cruzi lineages. Duplicated chromosome-sized regions were identified and could be retained as paralogous loci, increasing the dosage of several genes. By comparing T. cruzi and T. brucei chromosomes, homologous chromosomal regions in T. brucei were identified. Chromosomes Tb9 and Tb11 of T. brucei share regions of syntenic homology with three and six T. cruzi chromosomal bands, respectively. CONCLUSIONS: Despite genome size variation and karyotype polymorphism, T. cruzi lineages exhibit conservation of chromosome structure. Several syntenic groups are conserved among all isolates analyzed in this study. The syntenic regions are larger than expected if rearrangements occur randomly, suggesting that they are conserved owing to positive selection. Mapping of the syntenic regions on T. cruzi chromosomal bands

  9. Acquired methaemoglobinaemia related to phenazopyridine ingestion.

    Shahani, Lokesh; Sattovia, Stacy

    2012-01-01

    Methaemoglobin is an altered state of haemoglobin in which the ferrous ions of haeme are oxidised to the ferric state. This results in increased affinity to the bound oxygen and decreasing its availability to tissues. Most cases of methaemoglobinaemia are acquired, resulting from an increased methaemoglobin formation by various exogenous agents. The authors report an elderly patient presenting to the emergency department with a 1-month history of shortness of breath. Around the same time she had started using over-the-counter (OTC) phenazopyridine tablets for urinary symptoms. The patient was hypoxic and cyanotic; however, lacked evidence of hypoxaemia on the arterial blood gas. The presence of abnormal haemoglobin was suspected and confirmed by elevated levels of methaemoglobin. Phenazopyridine was proposed to be the likely aetiology of the methaemoglobinaemia, which the patient was not aware of. This case highlights the importance of always inquiring the OTC drug use especially in geriatric population. PMID:22987905

  10. 281例骨髓增生异常综合征患者染色体核型分析及临床意义的研究%Study on Chromosome Karyotype and Its Clinical Significance in 281 Cases of Myelodysplastic Syndromes

    韩秀蕊; 杨娣娣; 赵园; 张丽洁; 李艳春; 王九菊; 翟欣辉; 魏绪仓; 周家琛

    2015-01-01

    Objective To explore the abnormal karyotype characteristics of myelodysplastic syndrome (MDS)patients and their correlation with clinical prognosis.Methods Analyzed the karyotypes of 281 MDS patients by use of G-banding tech-nique.Results Through analysis of the karyotypes of 281 MDS patients,found that the percentage of abnormal karyotypes was 48.75% (137/281),among 137 patients with abnormal karyotypes,43.07% (59 cases)presented with numerical aber-ration,31.39% (43 cases)with structural aberration,and 25.54% (35 cases)with both numerical and structural abnormali-ties.As for MDS subtypes,the occurrence rate of abnormal karyotype was 63.41% (26/41)in RAEB-2,58.73% (37/63)in RAEB-1,39.2% (49/125)in RCMD,15.38% (2/13)in RAS and 22.58% (7/31)in RA.The rates of abnormal karyotype in RAEB-1 and RAEB-2 were significantly higher than that in RA and RAS(P<0.01),and in RCMD (P <0.05).The fre-quent abnormal karyotypes were as follows:+8,-7/7q-,-20/20q-,complex karyotypes chromosomal translocation,i(17),-Y and +21.The follow-up study of 159 MDS patients indicated that the median survival time was 39 months for 68 patients with normal karyotypes and 21 months for 91 patients with abnormal karyotypes,the former was significantly prolonged than the latter (P < 0.05).As far as the leukemia transition rate was concerned,the patients with aberrant karyotypes (35.5%)were significantly higher than that with normal karyotypes (10.3%)(P < 0.01),among them,the cases with complex karyotypes and-7/7q-more easily transit into leukemia.Conclusion MDS was one kind of clonal hematological ma-lignancy with high heterogeneity.Chromosomal karyotype test plays an important role in the correct diagnosis,typing and prognosis evaluation of MDS.%目的:探讨骨髓增生异常综合征(MDS)患者染色体核型异常特征及其与临床预后的关系。方法采用染色体常规 G 显带技术,对281例 MDS 患者进行细胞遗传学核型分析。结果281例 MDS 患者中,

  11. 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

    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.

  12. Karyotype Analysis of 576 Cases of Congenital Malformations%576例先天畸形儿的染色体核型分析

    黄红倩; 费冬梅; 欧阳鲁平; 刘天盛; 孙惟佳; 郑陈光

    2014-01-01

    Objective:By means of ultrasound diagnosis of congenital oaf fetal karyotype analysis ,we summarizes the relationship between the chromosomal abnormalities and deformed parts and number of deformity , providing the basis for prenatal diagnosis. Methods:From January 2009 to December 2013 in our hospital an amniocentest or cord blood puncture were performed byindications for prenatal diagnosis of congenital malformations ,576 cases of chromosome karyotype analysis of fetus, were investigate the relationship between the congenital oaf and chromosomal abnormalities. Results:The success rate of cell culture successfully are 551 cases (95.66%);chromosomal abnormalities in 90 cases (16.33%),with 63 cases often dyed anomaly of chromosome abnormality (70.00%);sex chromosome abnormality 25 cases(27.78%of chromosomal abnormality);triploid in 1 case;marker chromosomes in 1 case. Freak of chromosome abnormalities, the mainly types are cardiac malformation 31 cases (34.44%),skin edema 30 cases (33.33%),abnormal face and neck 21 cases (23.33%),abnormal brain structure 20 cases(22.22%),and the digestive system malformation 11 cases(12.22%). Conclusions:Congenital oaf has high incidence of chromosomal abnormalities. For ultrasound tips for congenital oaf , prenatal diagnosis ivtervention should be made to avoid the chromosome abnormalities in children with birth.%目的:通过对超声确诊为先天畸形儿的染色体核型进行分析,总结染色体异常与畸形部位和畸形数目的关系,为产前诊断提供依据。方法:2009年1月—2013年12月在广西壮族自治区妇幼保健院行羊水穿刺或脐带血穿刺,产前诊断指征为先天畸形儿的576例胎儿进行染色体核型分析,探讨先天畸形儿与染色体异常的关系及比例。结果:细胞培养成功551例(成功率95.66%)。染色体异常90例(16.33%),其中常染色体异常63例(占染色体异常的70.00%),性染色体异常25

  13. Rethinking responsibility in offenders with acquired paedophilia: punishment or treatment?

    Gilbert, Frédéric; Focquaert, Farah

    2015-01-01

    This article reviews the current neurobiological literature on the aetiology of developmental and acquired paedophilia and examines what the consequences could be in terms of responsibility and treatment for the latter. Addressing the question of responsibility and punishment of offenders with acquired paedophilia from a neurobiological perspective is controversial. Consequently it is essential to avoid hasty conclusions based strictly on neurobiological abnormality justifications. This study establishes a distinction between developmental and acquired paedophilia. The article investigates whether offenders who fulfil the diagnosis of acquired paedophilia should be held fully responsible, particularly in cases where the offender's conduct appears to result from volitionally controlled behaviour that is seemingly incompatible with a neurological cause. Moreover, the article explores how responsibility can be compromised when offenders with acquired paedophilia have (partially) preserved moral knowledge despite their sexual disorder. The article then examines the option of offering mandatory treatment as an alternative to imprisonment for offenders with acquired paedophilia. Furthermore, the article addresses the ethical issues related to offering any form of quasi-coercive treatment as a condition of release. This study concludes that decisions to fully or partially excuse an individual who fulfil the diagnosis of acquired paedophilia should take all relevant information into account, both neurobiological and other environmental evidence, and should proceed on a careful case by case analysis before sentencing or offering treatment. PMID:25725545

  14. Clonal evolution and tumor progression in 2 human colorectal adenoma-derived cell-lines invitro - the involvement of chromosome-1 abnormalities.

    Hague, A; Hanlon, K; Paraskeva, C

    1992-07-01

    Two human colorectal adenoma cell lines, S/RG and S/AN, have been continuously passaged in vitro to determine whether they would immortalize and if specific cytogenetic changes were involved in immortalization and tumor progression. At passage 7, S/RG was highly aneuploid, but had no abnormalities of chromosome 1 (Paraskeva et al, Cancer Res 49: 1282-1286, 1989). With continued passage under two independent sets of growth conditions an isochromosome Iq and derivatives of this isochromosome occurred as specific abnormalities. S/AN was near-diploid at passage 10, with a deletion in lp and monosomy 18. The karyotype at passage 44 showed no change. The cell lines are stable in that they have remained anchorage-dependent and non-tumorigenic after several years in culture and S/AN has retained a near diploid karyotype. These cell lines are therefore highly valuable for further studies of tumor progression in human colorectal carcinogenesis. PMID:21584532

  15. Abnormal maternal serum alpha fetoprotein and pregnancy outcome.

    Zarzour, S J; Gabert, H A; Diket, A L; St Amant, M; Miller, J M

    1998-01-01

    The objective was to assess the occurrence of miscarriages, low birth weight, and karyotype abnormalities found with low and elevated maternal serum alpha-fetoprotein (MSAFP) among women who had genetic amniocentesis performed. A retrospective study of 2,159 women who had MSAFP analysis prior to amniocentesis was conducted. Pregnancy outcomes were obtained from record review and physicians follow-up. Limits of MSAFP used in analysis were MOM) (lower levels) and >2.0 MOM (upper levels). Autosomal trisomy was found in 1.6% with low, 0.9% normal, and 0.6% with elevated MSAFP values. Sex chromosome abnormalities were present only in patients with normal MSAFP, [45X (n = 6), 47XXY (n = 2), 69XXX]. Of five open neural tube defects, four had elevated MSAFP and one had a normal value. Omphalocele was identified in four patients, two with normal and two with elevated MSAFP. Gastroschisis was found in one low and one elevated MSAFP. Amniotic fluid alpha-fetoprotein (AFAFP) values did not correlate with MSAFP values. Patients with low MSAFP levels had a greater prevalence of abnormal karyotype (19 of 249, prevalence = 0.076) than patients with an elevated MSAFP level (2 or 166, prevalence = 0.012 OR (odds ratio) = 0.20 (P value = 0.024) when unadjusted for maternal age, and OR = 0.09 (P value = 0.001) when adjusted for maternal age. Spontaneous abortion occurred more often in patients with elevated (4 of 166, or 4%) than normal or low (20 of 1948, or 1%) values of MSAFP (odds ratio 4.32, P = 0.020 when adjusted for maternal age). Birth weight below 2,500 g was present less frequently with low or normal MSAFP (136 of 1,760, or 7.7%) than in elevated MSAFP (21 of 144 or 14.6%) (odds ratio 2.04, P = 0.005, unadjusted; and odds ratio = 2.32, P = 0.003, adjusted for maternal age). Female fetuses were present more often with low MSAFP (136 of 249, or 55%) than elevated levels 43% (71 of 164, or 43%; P = 0.024). We conclude that patients undergoing genetic amniocentesis with MSAFP

  16. The C-, G-, and R-banded karyotype of the scimitar-horned oryx (Oryx dammah).

    Claro, F; Hayes, H; Cribiu, E P

    1994-01-01

    Karyotypes of five males and one female scimitar-horned oryx (Oryx dammah) were prepared using lymphocyte and skin cells. CBG-, GTG-, and RBG-banded chromosomes were analysed and the banding patterns were compared with those of cattle, revealing a high level of homoeology except for chromosomes 9, 14, 21, Y, and X. Standard karyotypes are proposed for the scimitar-horned oryx karyotype, which contains 58 chromosomes with one pair of large submetacentric autosomes and 27 acrocentric autosomal pairs. The X and Y chromosomes are the largest and smallest acrocentrics. The scimitar-horned oryx chromosome 1 is submetacentric and appears to result from the fusion between ancestral forms of bovid chromosomes numbered 1 and 29 according to the READING CONFERENCE (1980) nomenclature and to ISCNDA 89 if GTG-banding is used. PMID:8206781

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

    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.

  18. The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera

    Ahola, Virpi; Lehtonen, Rainer; Somervuo, Panu; Salmela, Leena; Koskinen, Patrik; Rastas, Pasi; Välimäki, Niko; Paulin, Lars; Kvist, Jouni; Wahlberg, Niklas; Tanskanen, Jaakko; Hornett, Emily A.; Ferguson, Laura C.; Luo, Shiqi; Cao, Zijuan; de Jong, Maaike A.; Duplouy, Anne; Smolander, Olli-Pekka; Vogel, Heiko; McCoy, Rajiv C.; Qian, Kui; Chong, Wong Swee; Zhang, Qin; Ahmad, Freed; Haukka, Jani K.; Joshi, Aruj; Salojärvi, Jarkko; Wheat, Christopher W.; Grosse-Wilde, Ewald; Hughes, Daniel; Katainen, Riku; Pitkänen, Esa; Ylinen, Johannes; Waterhouse, Robert M.; Turunen, Mikko; Vähärautio, Anna; Ojanen, Sami P.; Schulman, Alan H.; Taipale, Minna; Lawson, Daniel; Ukkonen, Esko; Mäkinen, Veli; Goldsmith, Marian R.; Holm, Liisa; Auvinen, Petri; Frilander, Mikko J.; Hanski, Ilkka

    2014-01-01

    Previous studies have reported that chromosome synteny in Lepidoptera has been well conserved, yet the number of haploid chromosomes varies widely from 5 to 223. Here we report the genome (393 Mb) of the Glanville fritillary butterfly (Melitaea cinxia; Nymphalidae), a widely recognized model species in metapopulation biology and eco-evolutionary research, which has the putative ancestral karyotype of n=31. Using a phylogenetic analyses of Nymphalidae and of other Lepidoptera, combined with orthologue-level comparisons of chromosomes, we conclude that the ancestral lepidopteran karyotype has been n=31 for at least 140 My. We show that fusion chromosomes have retained the ancestral chromosome segments and very few rearrangements have occurred across the fusion sites. The same, shortest ancestral chromosomes have independently participated in fusion events in species with smaller karyotypes. The short chromosomes have higher rearrangement rate than long ones. These characteristics highlight distinctive features of the evolutionary dynamics of butterflies and moths. PMID:25189940

  19. Nodes of Ranvier and Paranodes in Chronic Acquired Neuropathies

    Carmen Cifuentes-Diaz; Odile Dubourg; Theano Irinopoulou; Marc Vigny; Sylvie Lachkar; Laurence Decker; Patrick Charnay; Natalia Denisenko; Thierry Maisonobe; Jean-Marc Léger; Karine Viala; Jean-Jacques Hauw; Jean-Antoine Girault

    2011-01-01

    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 per...

  20. Acquired Fanconi syndrome in patients with Legionella pneumonia

    Kinoshita-Katahashi, Naoko; Fukasawa, Hirotaka; Ishigaki, Sayaka; Isobe, Shinsuke; Imokawa, Shiro; Fujigaki, Yoshihide; Furuya, Ryuichi

    2013-01-01

    Background Hyponatremia is often observed in patients with Legionella pneumonia. However, other electrolyte abnormalities are uncommon and the mechanism remains to be clarified. Case presentation We experienced two male cases of acquired Fanconi syndrome associated with Legionella pneumonia. The laboratory findings at admission showed hypophosphatemia, hypokalemia, hypouricemia and/or hyponatremia. In addition, they had the generalized dysfunction of the renal proximal tubules presenting decr...

  1. Certain Autoimmune Manifestations Are Associated With Distinctive Karyotypes and Outcomes in Patients With Myelodysplastic Syndrome: A Retrospective Cohort Study.

    Lee, Sang Jin; Park, Jin Kyun; Lee, Eun Young; Joo, Sang Hyun; Jung, Kyeong Cheon; Lee, Eun Bong; Song, Yeong Wook; Yoon, Sung-Soo

    2016-03-01

    Autoimmune manifestations (AIMs) are common in patients with myelodysplastic syndrome (MDS). This study aimed to investigate whether AIMs are associated with a specific cytogenetic abnormalities and worse survival in patients with MDS.A total of 67 MDS patients with AIMs and 134 age- and sex-matched MDS patients without AIMs, all of whom received medical care at Seoul National University Hospital from January 2000 through July 2014, were enrolled. The clinical features, chromosomal abnormalities, and outcomes were examined. The effect of AIMs on mortality was estimated after adjusting for age, sex, and the International Prognostic Scoring System.The mean age (±SD) at the time of MDS diagnosis was 54.5 ± 17.1 years, and 44.8% of patients were male. Neutrophilic dermatosis (ND; Sweet syndrome and pyoderma gangrenosum) was the most prevalent AIM (n = 24 36%]), followed by Behcet disease (10 [15%]), rheumatoid arthritis (9 [13%]), vasculitis (8 [12%]), myositis (3 [4%]), spondyloarthropathy (3 [4%]), and systemic lupus erythematous (2 [3%]). ND and vasculitis occurred at the time of MDS diagnosis, whereas other AIMs occurred years after MDS diagnosis. Deletion of 5q was associated with ND (P = 0.001), whereas trisomy 8 was associated with Behcet disease (P = 0.015). Strikingly, ND was associated with a 1.8-fold increase in mortality (95% CI 1.033-3.093; P = 0.038).Certain AIMs in MDS patients are associated with distinctive karyotypes and worse survival. A larger study is needed to confirm whether the presence of AIMs influences disease outcome in MDS. PMID:27043672

  2. And the Winner is - Acquired

    Henkel, Joachim; Rønde, Thomas; Wagner, Marcus

    2015-01-01

    New entrants to a market tend to be superior to incumbents in originating radical innovations. We provide a new explanation for this phenomenon, based on markets for technology. It applies in industries where successful entrepreneurial firms, or their technologies, are acquired by incumbents that...... lower probability accompanies higher 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...

  3. Giemsa C-banded karyotypes of Hordeum secalinum, H. capense and their interspecific hybrids with H. vulgare

    Linde-Laursen, Ib; Bothmer, R. von; Jacobsen, N.

    1986-01-01

    The European H. secalinum (2n = 4x = 48) and the South African H. capense (2n = 4x = 28) had similar karyotypes with ten pairs of metacentrics, three of submetacentrics, and one of SAT-chromosomes. The C-banded karyotypes of H. secalinum from northern Europe were characterized by banding patterns...

  4. Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses

    Schou, K V; Kirchhoff, M; Nygaard, U;

    2009-01-01

    karyotype on conventional karyotyping. METHODS: Chorionic villus samples from 100 fetuses with NT > or = 99(th) percentile and normal G-banding analysis and MLPA for detection of aneuploidies for chromosomes 13, 18, 21, X and Y were included. Examinations were supplemented by HR-CGH and MLPA for syndromes...

  5. GTG Banded Karyotype of Anatolian River Buffalo (Bubalus bubalis, 2n=50)

    SOYSAL, M.İhsan

    2016-01-01

    The water buffalo (Bubalus bubalis) is one of the most important farm animals of Turkey. There are two types of the water buffalo: river and swamp. While the chromosome number of the river type is 2n=50, that of swamp type is 2n=48. It was reported that the Anatolian water buffalo has 2n=50 chromosomes as being river type but the GTG banded karyotype has not been reported so far. We here report for the first time a GTG banded karyotype of the Anatolian water buffalo.

  6. All males do not have 46 xy karyotype: A rare case report

    Ritesh Kumar Agrawala

    2013-01-01

    Full Text Available The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX. A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH showed sex determining region of Y chromosome (SRY gene locus on X chromosome.

  7. 46,XX Karyotype in a Male with Ambigious Genitalia: A Case Report

    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.

  8. Karyotype rearrangements and telomere analysis in Myzus persicae ( Hemiptera , Aphididae ) strains collected on Lavandula sp. plants

    Mauro Mandrioli; Federica Zanasi; Gian Carlo Manicardi

    2014-01-01

    Abstract Karyotype analysis of nine strains of the peach-potato aphid Myzus persicae (Sulzer, 1776), collected on Lavandula sp. plants, evidenced showed that five of them had a standard 2n = 12 karyotype, one possessed a fragmentation of the X chromosome occurring at the telomere opposite to the NOR-bearing one and three strains had a chromosome number 2n = 11 due to a non-reciprocal translocation of an autosome A3 onto an A1 chromosome. Interestingly, the terminal portion of the autosome A1 ...

  9. Study of the karyotype of Oryzoborus maximiliani (Passeriformes - Aves) using young feather pulp cultures

    Beatriz Goldschmidt; Denise Monnerat Nogueira; Katia Pacheco Araujo Silva; Lucia Moreno de Souza

    2000-01-01

    The investigation of the karyotype of Oryzoborus maximiliani in living birds utilizing young feather pulp culture is described. The species karyotype was established as 2n = 72 with unequivocal identification of the sexual chromosome pair. Evolutionary considerations are raised.Foram estudados citogeneticamente vinte exemplares da espécie Oryzoborus maximiliani provenientes de criatórios do Estado do Rio de Janeiro. Foi aplicada a técnica de cultura de curta duração de polpa de penas jovens, ...

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

    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.

  11. Karyotypes of Three Rat Species (Mammalia: Rodentia: Muridae) from Hainan Island, China, and the Valid Specific Status of Niviventer lotipes 

    Li, Yuchun; Wu, Yi; Harada, Masashi; Lin, Liang-Kong; MOTOKAWA, Masaharu

    2008-01-01

    The karyotypes of three rat species from Hainan Island, China, were examined. Niviventer fulvescens (Gray, 1847) had 2n=46 and FN=64, similar to the karyotypes reported for N. fulvescensfrom Southeast Asia, while Niviventer lotipes (Allen, 1926) had 2n=52 and FN=66, which is distinct from the known karyotypes of other Niviventer species. Niviventer lotipes was recently considered conspecific with N. tenaster (Thomas, 1916), but the two were found to have extremely different karyotypes (2n=52 ...

  12. Prognosis of acute myeloid leukemia harboring monosomal karyotype in patients treated with or without allogeneic hematopoietic cell transplantation after achieving complete remission

    Yanada, Masamitsu; Kurosawa, Saiko; Yamaguchi, Takuhiro; Yamashita, Takuya; Moriuchi, Yukiyoshi; Ago, Hiroatsu; Takeuchi, Jin; Nakamae, Hirohisa; Taguchi, Jun; Sakura, Toru; Takamatsu, Yasushi; Waki, Fusako; Yokoyama, Hiroki; Watanabe, Masato; Emi, Nobuhiko

    2012-01-01

    To evaluate the prognostic impact of monosomal karyotype on post-remission outcome in acute myeloid leukemia, we retrospectively analyzed 2,099 patients who had achieved complete remission. Monosomal karyotype was noted in 73 patients (4%). Of these, the probability of overall survival from first complete remission was 14% at four years, which was significantly lower than that reported in patients without monosomal karyotype, primarily due to a high relapse rate (86%). Monosomal karyotype rem...

  13. 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

    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....

  14. Genomic, immunophenotypic, and NPM1/FLT3 mutational studies on 17 patients with normal karyotype acute myeloid leukemia (AML) followed by aberrant karyotype AML at relapse.

    Wang, Eunice S; Sait, Sheila N J; Gold, David; Mashtare, Terry; Starostik, Petr; Ford, Laurie Ann; Wetzler, Meir; Nowak, Norma J; Deeb, George

    2010-10-15

    Normal karyotype (NK) is the most common cytogenetic group in acute myeloid leukemia (AML) diagnosis; however, up to 50% of these patients at relapse will have aberrant karyotype (AK) AML. To determine the etiology of relapsed AK AML cells, we evaluated cytogenetic, immunophenotypic, and molecular results of 17 patients with diagnostic NK AML and relapsed AK AML at our institute. AK AML karyotype was diverse, involving no favorable and largely (8 of 17) complex cytogenetics. Despite clear cytogenetic differences, immunophenotype and NPM1/FLT3 gene mutation status did not change between presentation and relapse in 83% (10 of 12) and 94% (15 of 16) cases, respectively. High-resolution array-based comparative genomic hybridization (aCGH) performed via paired aCGH on NK AML and AK AML samples from the same patient confirmed cytogenetic aberrations only in the relapse sample. Analysis of 16 additional diagnostic NK AML samples revealed no evidence of submicroscopic aberrations undetected by conventional cytogenetics in any case. These results favor evolution of NK AML leukemia cells with acquisition of novel genetic changes as the most common etiology of AK AML relapse as opposed to secondary leukemogenesis. Additional studies are needed to confirm whether AK AML cells represent selection of rare preexisting clones below aCGH detection and to further characterize the molecular lesions found at time of AK AML relapse. PMID:20875872

  15. Karyotype differentiation patterns in species of the subfamily Scarabaeinae (Scarabaeidae, Coleoptera).

    Cabral-de-Mello, Diogo Cavalcanti; de Oliveira, Sárah Gomes; Ramos, Ituza Celeste; de Moura, Rita de Cássia

    2008-12-01

    The aim of this study was to describe the karyotype of species belonging to the subfamily Scarabaeinae (Coleoptera, Scarabaeidae) and to compile the conventional cytogenetic data available in the literature for this group. The karyotypes of ten species belonging to the tribes Canthonini, Coprini, Onthophagini and Phanaeini were analyzed by conventional staining. Eight of these species were described for the first time (Canthon aff carbonarius, Canthon chalybaeus, Coprophanaeus dardanus, Deltochilum aff amazonicum, Dichotomius geminatus, Oxysternon silenus, Phanaeus chalcomelas and Malagoniella aff astyanax) and two were redescribed (Diabroctis mimas and Digitonthophagus gazella) since their karyotypes differed from those previously published in the literature. Four species studied showed a diploid number of 2n=20 and a parachute type sex determining system and the karyotype was 2n=20,Xy in two species and 2n=18,Xy(p), 2n=19,X0, 2n=12,XY and 2n=14,neoXY in one each. The chromosome morphology of the different species varied, with the observation of metacentric, submetacentric, subacrocentric and acrocentric chromosomes. The X chromosome was predominantly meta or submetacentric in the species analyzed, whereas the y chromosome presented two arms or was punctiform. In conclusion, the subfamily Scarabaeinae comprises 120 species analyzed cytogenetically, and are observed the occurrence of five chromosome rearrangements (autosome-autosome and X-autosome fusions, pericentric inversions, fissions and loss of the y chromosome) that are related to the chromosome variability and evolution in the group. PMID:18495484

  16. DNA PLOIDY AND KARYOTYPE IN RECURRENT AND METASTATIC SOFT-TISSUE SARCOMAS

    VANDENBERG, E; MOLENAAR, WM; HOEKSTRA, HJ; KAMPS, WA; DEJONG, B

    1992-01-01

    To study mechanisms involved in evolution of soft tissue sarcomas, we compared DNA ploidy and karyotypes at different stages of their disease in two patients with myxoid liposarcomas (MLS), one with a fibrosarcoma (FS), and two with rhabdomyosarcomas (RMS). None of the MLS samples revealed clearcut

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

    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. PMID:27088853

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

    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.

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

    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. PMID:21637614

  20. Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass.

    Johnson, D S; Cinnioglu, C; Ross, R; Filby, A; Gemelos, G; Hill, M; Ryan, A; Smotrich, D; Rabinowitz, M; Murray, M J

    2010-12-01

    Aneuploidy has been well-documented in blastocyst embryos, but prior studies have been limited in scale and/or lack mechanistic data. We previously reported preclinical validation of microarray 24-chromosome preimplantation genetic screening in a 24-h protocol. The method diagnoses chromosome copy number, structural chromosome aberrations, parental source of aneuploidy and distinguishes certain meiotic from mitotic errors. In this study, our objective was to examine aneuploidy in human blastocysts and determine correspondence of karyotypes between trophectoderm (TE) and inner cell mass (ICM). We disaggregated 51 blastocysts from 17 couples into ICM and one or two TE fractions. The average maternal age was 31. Next, we ran 24-chromosome microarray molecular karyotyping on all of the samples, and then performed a retrospective analysis of the data. The average per-chromosome confidence was 99.95%. Approximately 80% of blastocysts were euploid. The majority of aneuploid embryos were simple aneuploid, i.e. one or two whole-chromosome imbalances. Structural chromosome aberrations, which are common in cleavage stage embryos, occurred in only three blastocysts (5.8%). All TE biopsies derived from the same embryos were concordant. Forty-nine of 51 (96.1%) ICM samples were concordant with TE biopsies derived from the same embryos. Discordance between TE and ICM occurred only in the two embryos with structural chromosome aberration. We conclude that TE karyotype is an excellent predictor of ICM karyotype. Discordance between TE and ICM occurred only in embryos with structural chromosome aberrations. PMID:20643877

  1. Karyotype variation is indicative of subgenomic and ecotypic differentiation in switchgrass

    A cytogenetic study was conducted on a dihaploid individual (2n'='2X'='18) of switchgrass to establish a chromosome karyotype. Size differences, condensation patterns, and arm-length ratios were used as identifying features and fluorescence in-situ hybridization (FISH) assigned 5S and 45S rDNA loci...

  2. First description of the karyotype of a eucharitid wasp ( Hymenoptera , Chalcidoidea , Eucharitidae )

    Santos, Igor Silva; Delabie, Jacques Hubert Charles; Costa, Marco Antonio; Mariano, Cléa Santos Ferreira; Silva, Janisete Gomes

    2015-01-01

    Abstract The haploid karyotype of Kapala sp. ( Eucharitidae ), a parasite of the Neotropical ant Dinoponera lucida Emery, 1901 ( Hymenoptera , Formicidae ), is reported for the first time. It consists of four metacentric chromosomes. Chromosomes in the family Eucharitidae were unknown so far; therefore, our results confirm that multiple parallel chromosomal fusions have taken place in several lineages within the superfamily Chalcidoidea .

  3. An electrophoretic karyotype for Schizosaccharomyces pombe by pulsed field gel electrophoresis.

    Smith, C.L.; Matsumoto, T.; Niwa, O; Klco, S; Fan, J B; Yanagida, M.; Cantor, C R

    1987-01-01

    The three chromosomal DNAs of S. pombe have been fractionated by pulsed field gel electrophoresis. The resulting molecular karyotype will greatly speed gene mapping in this organism, and it indicates that the separation range of the technique extends to DNA molecules as large as 9,000,000 base pairs.

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

    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 ...

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

    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 of Persian Chub, Petroleuciscus persidis (Coad, 1981) (Actinopterygii: Cyprinidae) from Southern Iran

    ESMAEILI, H. R.; PIRAVAR, Z.

    2006-01-01

    The diploid chromosome number of Persian chub, Petroleuciscus persidis (Coad, 1981), was 2n = 50, comprising 29 metacentric, 18 submetacentric, and 3 subtelocentric chromosomes and the number of arms was 97. A detailed karyotype of this endemic cyprinid fish of southern Iran was established for the first time in this study.

  7. Major Cytogenetic Landmarks and Karyotype Analysis in Carrot (Daucus carota L.) and Other Apiaceace

    Karyotyping can be helpful for understanding species evolution and relationships. Cytological studies in Apiaceae have provided information on the chromosome number and morphology of several crops. However, karyological data of their wild relatives are scarce. In addition, the number of chromosomes ...

  8. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    Wallis, C. E.; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

  9. Ear and hearing problems in relation to karyotype in children with Turner syndrome

    Verver, E.J.; Freriks, K.; Thomeer, H.G.X.M.; Huygen, P.L.M.; Pennings, R.J.E.; Alfen-van der Velden, A.A.E.M. van; Timmers, H.J.L.M.; Otten, B.J.; Cremers, C.W.R.J.; Kunst, H.P.M.

    2011-01-01

    The aim of the study was to report otologic and audiologic characteristics in a group of children with Turner syndrome (TS) and correlate these findings to karyotype. Additionally, we give recommendations for the otologic care of these children. Sixty children (age 1.7-21.2 years) were included in t

  10. Karyotype and C-Banding Patterns of Mitotic Chromosomes in Meadow Bromegrass (Bromus riparius Rehm)

    Chromosomes of meadow bromegrass, Bromus riparius, are mainly median and similar in morphology. C-bands were located at telomeric regions of the chromosomes. Majority of the chromosomes had telomeric bands either in one or both arms. Approximately 10 chromosomes had no C-bands. Karyotype of meadow b...

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

    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

  12. Systemic abnormalities in liver disease

    Minemura, Masami; Tajiri, Kazuto; Shimizu, Yukihiro

    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.

  13. Acquiring taste in home economics?

    Stenbak Larsen, Christian

    2015-01-01

    that the pupils were encouraged to use their senses: listen to things frying, touch the meat to check if it was done and taste the food in the process of seasoning it. But while some children learned what the teachers expected: to produce well tasting food, others learned to cook very salty and hot food...... appreciated by the group of boys, and others again learned to stick with their idiosyncrasies when pressured by the teacher. Conclusions: Children were acquiring taste in the home economic lessons, but not only the kind of tastes that the teacher had planned for. This leads to reflections on the very complex...... process of taste acquiring and to a call for further research into taste acquiring in complex real life contexts as home economics lessons....

  14. Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

    Veronica Ortega

    2013-01-01

    Full Text Available We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9. Parental chromosome analysis showed both parents to be carriers of inv(9 and the parents are not consanguineous. Fetal ultrasound was normal. The mother presented to the clinic 4 weeks later with intrauterine fetal demise. Chromosome analysis from the placenta showed two different cell lines: a balanced (15;21 Roberstonian translocation in 11 cells and an unbalanced (21;21 Robertsonian translocation in 9 cells. The karyotype was interpreted as mos 45,XX,inv(9(p11q13x2,der(15;21(q10;q10[11]/46,XX,inv(9(p11q13x2,+21,der(21;21(q10;q10. Mother was a carrier for the Cystic Fibrosis (delta F508, Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. She also had a sibling with term stillbirth. Her husband’s history was unremarkable. Our case appears to be another example of confined placental mosaicism (CPM with normal fetal karyotype. However, we could not confirm the possibility that CPM contributed to the IUFD in our case given the complex medical history of the mother.

  15. Morphological Abnormalities of Thalamic Subnuclei in Migraine

    Magon, Stefano; May, Arne; Stankewitz, Anne;

    2015-01-01

    UNLABELLED: The thalamus contains third-order relay neurons of the trigeminal system, and animal models as well as preliminary imaging studies in small cohorts of migraine patients have suggested a role of the thalamus in headache pathophysiology. However, larger studies using advanced imaging...... techniques in substantial patient populations are lacking. In the present study, we investigated changes of thalamic volume and shape in a large multicenter cohort of patients with migraine. High-resolution T1-weighted MRI data acquired at 3 tesla in 131 patients with migraine (38 with aura; 30.8 ± 9 years...... a fully automated multiatlas approach. Deformation-based shape analysis was performed to localize surface abnormalities. Differences between patients with migraine and healthy subjects were assessed using an ANCOVA model. After correction for multiple comparisons, performed using the false discovery...

  16. 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

    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.

  17. Acquired Aplastic Anemia in Children

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

    2013-01-01

    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.

  18. Acquired anhidrosis a case report

    Nair Laxmi

    1992-01-01

    Full Text Available A 30-year -old man was seen for acquired anhidrosis. There was no systemic disease. Vasomotor functions were normal. Biopsy showed normal sweat glands and ducts. Intravenous injection of neostigmine could produce profuse sweating on the face, trunk and arms. The disorder is likely to be due to a peripheral dysautonomia selectively affecting the sudomotor function.

  19. Acquired anhidrosis a case report

    Nair Laxmi; Beena D; Manohar S

    1992-01-01

    A 30-year -old man was seen for acquired anhidrosis. There was no systemic disease. Vasomotor functions were normal. Biopsy showed normal sweat glands and ducts. Intravenous injection of neostigmine could produce profuse sweating on the face, trunk and arms. The disorder is likely to be due to a peripheral dysautonomia selectively affecting the sudomotor function.

  20. Comparison of the karyotypes ofPsathyrostachys juncea andP. huashanica (Poaceae) studied by banding techniques

    Linde-Laursen, Ib; Bothmer, R. von

    1986-01-01

    The karyotypes of P. juncea (Elymus junceus) and P. huashanica (both outbreeders) were investigated by Feulgen-staining and by C-, N-, and Ag-banding, based on a single plant in each case. Both species have 2n = 2x = 14 and large chromosomes, possibly a generic character. The karyotype of P. juncea...... 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...

  1. Giemsa C-banded karyotypes of Hordeum secalinum, H. capense and their interspecific hybrids with H. vulgare

    Linde-Laursen, Ib; Bothmer, R. von; Jacobsen, N.

    1986-01-01

    The European H. secalinum (2n = 4x = 48) and the South African H. capense (2n = 4x = 28) had similar karyotypes with ten pairs of metacentrics, three of submetacentrics, and one of SAT-chromosomes. The C-banded karyotypes of H. secalinum from northern Europe were characterized by banding patterns...... reproductive system. No banding pattern polymorphism was present within plants of H. secalinum from Spain and H. capense, suggesting self-pollination. In both species banding pattern polymorphism was prevalent among plants. Together with other evidence the fairly similar basic C-banded karyotypes of the two...

  2. Radiological diagnosis of hip joint abnormalities in children

    Михаил Михайлович Камоско

    2015-06-01

    Full Text Available Abnormalities of the hip joint in children covers a wide range of diseases, including both congenital and acquired ones. Hip dysplasia, Legg-Calve-Perthes disease and juvenile slipped capital femoral epiphysis account for up to 25 % of all diseases of the musculoskeletal system in pediatric patients. Early diagnosis of these disorders and timely treatment are of paramount importance in the prevention of childhood disability.

  3. Radiological diagnosis of hip joint abnormalities in children

    Mikhail Mikhailovich Kamosko; Mahmoud Stanislavovich Poznovich

    2015-01-01

    Abnormalities of the hip joint in children covers a wide range of diseases, including both congenital and acquired ones. Hip dysplasia, Legg-Calve-Perthes disease and juvenile slipped capital femoral epiphysis account for up to 25 % of all diseases of the musculoskeletal system in pediatric patients. Early diagnosis of these disorders and timely treatment are of paramount importance in the prevention of childhood disability.

  4. Abnormal mandibular growth and the condylar cartilage.

    Pirttiniemi, Pertti; Peltomäki, Timo; Müller, Lukas; Luder, Hans U

    2009-02-01

    Deviations in the growth of the mandibular condyle can affect both the functional occlusion and the aesthetic appearance of the face. The reasons for these growth deviations are numerous and often entail complex sequences of malfunction at the cellular level. The aim of this review is to summarize recent progress in the understanding of pathological alterations occurring during childhood and adolescence that affect the temporomandibular joint (TMJ) and, hence, result in disorders of mandibular growth. Pathological conditions taken into account are subdivided into (1) congenital malformations with associated growth disorders, (2) primary growth disorders, and (3) acquired diseases or trauma with associated growth disorders. Among the congenital malformations, hemifacial microsomia (HFM) appears to be the principal syndrome entailing severe growth disturbances, whereas growth abnormalities occurring in conjunction with other craniofacial dysplasias seem far less prominent than could be anticipated based on their often disfiguring nature. Hemimandibular hyperplasia and elongation undoubtedly constitute the most obscure conditions that are associated with prominent, often unilateral, abnormalities of condylar, and mandibular growth. Finally, disturbances of mandibular growth as a result of juvenile idiopathic arthritis (JIA) and condylar fractures seem to be direct consequences of inflammatory and/or mechanical damage to the condylar cartilage. PMID:19164410

  5. Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

    Tharapel, A T; Anderson, K P; Simpson, J L; Martens, P R; Wilroy, R S; Llerena, J C; Schwartz, C E

    1993-01-01

    During a routine prenatal diagnosis we detected a female fetus with an apparent terminal deletion of an X chromosome with a karyotype 46,X,del(X)(q25); the mother, who later underwent premature ovarian failure, had the same Xq deletion. To further delineate this familial X deletion and to determine whether the deletion was truly terminal or, rather, interstitial (retaining a portion of the terminal Xq28), we used a combination of fluorescence in situ hybridization (FISH) and Southern analyses. RFLP analyses and dosage estimation by densitometry were performed with a panel of nine probes (DXS3, DXS17, DXS11, DXS42, DXS86, DXS144E, DXS105, DXS304, and DXS52) that span the region Xq21 to subtelomeric Xq28. We detected a deletion involving the five probes spanning Xq26-Xq28. FISH with a cosmid probe (CLH 128) that defined Xq28 provided further evidence of a deletion in that region. Analysis with the X chromosome-specific cocktail probes spanning Xpter-qter showed hybridization signal all along the abnormal X, excluding the possibility of a cryptic translocation. However, sequential FISH with the X alpha-satellite probe DXZ1 and a probe for total human telomeres showed the presence of telomeres on both the normal and deleted X chromosomes. From the molecular and FISH analyses we interpret the deletion in this family as 46,X,del(X) (pter-->q26::qter). In light of previous phenotypic-karyotypic correlations, it can be deduced that this region contains a locus responsible for ovarian maintenance. Images p[466]-a Figure 1 Figure 3 Figure 4 PMID:8095365

  6. Deletion (X)(q26. 1[r arrow]q28) in a proband and her mother: Molecular characterization and phenotypic-karyotypic deductions

    Tharapel, A.T.; Simpson, J.L.; Martens, P.R.; Wilroy, R.S. Jr.; Llerena, J.C. Jr. (Univ. of Tennessee, Memphis (United States)); Anderson, K.P.; Schwartz, C.E. (Greenwood Genetics Center, SC (United States))

    1993-03-01

    During a routine pernatal diagnosis the authors detected a female fetus with an apparent terminal deletion of an X chromosome with a karyotype 46,X,del(X)(q25); the mother, who later underwent premature ovarian failure, had the same Xq deletion. To further delineate this familial X deletion and to determine whether the deletion was truly terminal or, rather, interstitial (retaining a portion of the terminal Xq28), the authors used a combination of fluorescence in situ hybridization (FISH) and Southern analyses. RFLP analyses and dosage estimation by densitometry were performed with a panel of nine probes (DXS3, DXS17, DXS11, DXS42, DXS86, DXS144E, DXS105, DXS304, and DXS52) that span the region Xq21 to subtelomeric Xq28. They detected a deletion involving the five probes spanning Xq26-Xq28. FISH with a cosmid probe (CLH 128) that defined Xq28 provided further evidence of a deletion in that region. Analysis with the X chromosome-specific cocktail probes spanning Xpter-qter showed hybridization signal all along the abnormal X, excluding the possibility of a cryptic translocation. However, sequential FISH with the X [alpha]-satellite probe DXZ1 and a probe for total human telomeres showed the presence of telomeres on both the normal and deleted X chromosomes. From the molecular and FISH analyses they interpret the deletion in this family as 46,X,del(X)(pter[r arrow]q26::qter). In light of previous phenotypic-karyotypic correlations, it can be deduced that this region contains a locus responsible for ovarian maintenance. 32 refs., 4 figs., 2 tabs.

  7. Acquired long QT syndrome: a focus for the general pediatrician.

    Marzuillo, Pierluigi; Benettoni, Alessandra; Germani, Claudio; Ferrara, Giovanna; D'Agata, Biancamaria; Barbi, Egidio

    2014-04-01

    Acquired long QT syndrome (LQTS) is a disorder of cardiac repolarization most often due to specific drugs, hypokalemia, or hypomagnesemia that may precipitate torsade de pointes and cause sudden cardiac death. Common presentations of the LQTS are palpitations, presyncope, syncope, cardiac arrest, and seizures. An abnormal 12-lead electrocardiogram obtained while the patient is at rest is the key to diagnosis. The occurrence of drug-induced LQTS is unpredictable in any given individual, but a common observation is that most patients have at least 1 identifiable risk factor in addition to drug exposure. The cornerstone of the management of acquired LQTS includes the identification and discontinuation of any precipitating drug and the correction of metabolic abnormalities, such as hypokalemia or hypomagnesemia. Most of the episodes of torsade de pointes are short-lived and terminate spontaneously. We propose a management protocol that could be useful for the daily practice in the emergency pediatric department to reduce the risk of acquired QT prolongation. PMID:24694881

  8. 桂林地区526例遗传咨询者羊水细胞染色体核型分析%Karyotype analysis of amniotic fluid cells in 526 cases for genetic consult

    蒋群芳; 唐娟

    2012-01-01

    目的 探讨羊水细胞培养及染色体核型分析在唐氏综合征等染色体病干预中的价值.方法 对526例孕妇行羊膜腔穿刺术,羊水细胞培养、染色体制备及核型分析.结果 羊水细胞培养成功率为99.43%,检出异常核型31例,其中21-三体6例,包括嵌合型1例,13-三体1例,性染色体数目异常3例,嵌合体4例,染色体结构异常14例,多态性变异4例.结论 采用羊水细胞进行染色体核型分析对唐氏综合征等染色体异常进行产前诊断,是控制和减少出生缺陷的发生地有效措施.%Objective; To investigate the value of amniotic fluid cell culture and chromosome kaiyotype analysis in interventing Down's syndrome and other chromosomal disease. Methods; The amniocentesis were implemented among 526 cases gravidas, and amniotic fluid cell were cultured, and there karyotype were analyed. Results; The rate of training success is 99.43%. The abnormal chromosome karyotypes of 31 cases were as follows; 6 cases for trisomy 21, including 1 case for the chimeric type, 1 case for trisomy 13, 3 cases for sex chromosome abnormalities, 4 cases for mosaicism, 14 cases for structural chromosomal abnormality, 4 cases fin-polymorphic variation. Conclusion; In order to control and reduce the incidence of birth defects, it is effective measure to use amniotic fluid cell chromosome karyotype analysis for diagnosising Down's syndrome and other chromosomal abnormalities.

  9. Karyotypes of some medium-sized Dytiscidae (Agabinae and Colymbetinae (Coleoptera

    Robert Angus

    2013-06-01

    Full Text Available An account is given of the karyotypes of 29 species of medium sized Dytiscidae (Coleoptera. Of the 20 species of Agabus Leach, 1817, 18 have karyotypes comprising 21 pairs of autosomes and sex chromosomes which are either X0(♂ or XX (♀. These species are A. serricornis (Paykull, 1799, A. labiatus (Brahm, 1791, A. congener (Thunberg, 1794, A. lapponicus (Thomson, 1867, A. thomsoni (J. Sahlberg, 1871, A. confinis (Gyllenhal, 1808, A. sturmii (Gyllenhal, 1808, A. bipustulatus (Linnaeus, 1767, A. nevadensis Håkan Lindberg, 1939, A. wollastoni Sharp, 1882, A. melanarius Aubé, 1837, A. biguttatus (Olivier, 1795, A. binotatus Aubé, 1837, A. affinis (Paykull, 1798, A. unguicularis (Thomson, 1867, A. ramblae Millan & Ribera, 2001, A. conspersus (Marsham, 1802 and A. nebulosus (Forster, 1771. However two species, A. infuscatus Aubé, 1838 and A. adpressus Aubé, 1837, have developed a neo-XY system, with karyotypes comprising 21 pairs of autosomes and XY sex chromosomes (♂. No chromosomal differences have been detected between typical A. bipustulatus and A. bipustulatus var. solieri Aubé, 1837, nor have any been found between the three species of the A. bipustulatus complex (A. bipustulatus, A. nevadensis and A. wollastoni. The four species of Colymbetes Clairville, 1806, C. fuscus (Linnaeus, 1758, C. paykulli Erichson, 1837, C. piceus Klug, 1834 and C. striatus (Linnaeus, 1758 have karyotypes comprising 20 pairs of autosomes and sex chromosomes which are X0 (♂, XX (♀. Two of the species of Rhantus Dejean, 1833, R. exsoletus (Forster, 1771 and R. suturellus (Harris, 1828 have karyotypes comprising 20 pairs of autosomes and X0/XX sex chromosomes, but the other three species, R. grapii (Gyllenhal, 1808, R. frontalis (Marsham, 1802 and R. suturalis (Macleay, 1825 have 22 pairs of autosomes and X0/XX sex chromosomes. Agabus congener and Rhantus suturellus may have one B-chromosome. Nine of the species have previously published karyotype data but

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

    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.

  11. Skin - abnormally dark or light

    ... 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 ...

  12. Occupationally Acquired American Cutaneous Leishmaniasis

    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

    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. Cogema acquires TOTAL's uranium assets

    On April 28, France's nuclear fuel cycle conglomerate Cogema and petroleum group TOTAL announced a plan in which Cogema will assume ownership of TOTAL's uranium assets worldwide, and as part of the deal, each firm will acquire shares of the other. On June 2, the agreement will be submitted to shareholders and, assuming it is approved, will go into effect this year. The agreement calls for TOTAL to acquire a 10.8-percent share in Cogema, thus becoming its first private sector shareholder, by underwriting a reserve capital increase of FF1.5 billion (approximately US$283 million). In return, Cogema will pay FF2.52 billion for approximately 4.3 percent of TOTAL, as part of a reserve capital increase totalling FF4.07 billion

  15. Analysis on the etiology and chromosome karyotype of female patients with infertility%女性不孕不育患者病因及染色体核型分析

    周伟; 李新伟; 许世敏

    2015-01-01

    目的 探讨女性不孕不育的病因及其与染色体核型异常之间的关系.方法 对132例确诊为不孕的女性患者进行系统性检查,并进行外周血淋巴细胞培养,G显带进行核型分析.结果 造成女性不孕不育的主要原因是输卵管因素、子宫因素、内分泌因素、免疫因素以及遗传因素,其中输卵管因素所占比例最重,为53.03%.异常核型发生率为7.57%(10例),其中检出X染色体异常7例,以特纳综合征为主;检出常染色体异常3例.结论 不孕症的病因复杂,染色体异常与女性不孕关系密切,对女性不孕患者做染色体检查是必要的.%Objective To investigate the etiology of female infertility and its relationship with chromosome abnormality.Method 132 female patients with infertility underwent physical examination,peripheral blood lymphocyte culture and G-banding karyotype analysis.Results The major factors of female infertility was abnormal fallopian tube,uterus,endocrine,immune and chromosome.Fallopian tube was the dominating factor,accounting for 53.03%.There were 10 cases (7.57%) of chromosome abnormality,including 7 cases of X chromosome abnormality and 3 cases of autosomal abnormality,and Turner's syndrome was the most common type in X chromosome abnormality.Conclusions The etiology of female infertility is very complex,chromosome abnormality plays an important role in female infertility.It is necessary for female patients with infertility to take chromosome karyotype analysis.

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

    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.

  17. Karyotype Study on Scilla scilloides (Lindl.) Druce in Yantai%烟台绵枣儿的核型研究

    王爱云; 赵彦宏; 刘林德; 王丽娟

    2008-01-01

    [Objective] The aim of this study was to investigate the chromoseome number and the karyotype of Scilla scilloides in Yantai. [Method] Root tips of Scilla scilloides were pretreated by 8-hydroxyquinoline, then fixed, dissociated and stained for slice production. The chromosome number was ana-lyzed by microscopic examination, and then cells with good chromosomal morphology and dispersal chromosome were studied by microscopic photos. [Re-sult] The somatic chromosome number of Scilla scilloides in Yantai was 2n=16+1Bs, while the karyotype formula was K (2n)=2x=16+1Bs=6m+4sm (2SAT)+4st+2t+1Bs and the karyotype classification was "3B" type. [Conclusion] Karyotype comparison, division of cell type and evolution of Scilla scilloides in Yantai are discussed, which provides basis for cytogenetics, evolutionary genetics, modem taxonomy and genetic breeding.

  18. Acquired causes of intestinal malabsorption.

    van der Heide, F

    2016-04-01

    This review focuses on the acquired causes, diagnosis, and treatment of intestinal malabsorption. Intestinal absorption is a complex process that depends on many variables, including the digestion of nutrients within the intestinal lumen, the absorptive surface of the small intestine, the membrane transport systems, and the epithelial absorptive enzymes. Acquired causes of malabsorption are classified by focussing on the three phases of digestion and absorption: 1) luminal/digestive phase, 2) mucosal/absorptive phase, and 3) transport phase. Most acquired diseases affect the luminal/digestive phase. These include short bowel syndrome, extensive small bowel inflammation, motility disorders, and deficiencies of digestive enzymes or bile salts. Diagnosis depends on symptoms, physical examination, and blood and stool tests. There is no gold standard for the diagnosis of malabsorption. Further testing should be based on the specific clinical context and the suspected underlying disease. Therapy is directed at nutritional support by enteral or parenteral feeding and screening for and supplementation of deficiencies in vitamins and minerals. Early enteral feeding is important for intestinal adaptation in short bowel syndrome. Medicinal treatment options for diarrhoea in malabsorption include loperamide, codeine, cholestyramine, or antibiotics. PMID:27086886

  19. Acute Myelomonocytic Leukemia with Abnormal Eosinophils: A Case Report with Multi- Modality Diagnostic Work-up

    Ching-Cherng Tzeng

    2006-10-01

    Full Text Available Acute myeloid leukemia (AML with recurrent genetic abnormalities often carries a favorableprognosis. AML with inv(16(p13q22 occurs predominantly in younger patients and usually showsgranulocytic and monocytic differentiation with abnormal eosinophils. It is referred to as acutemyelomonocytic leukemia with abnormal eosinophils (AMML Eo. We report a case in a 27-year-oldman with leukocytosis (10.6x103/μL with 34% blasts, thrombocytopenia and splenomegaly. Marrowaspiration showed 47% blasts and 33% eosinophils, of which 19% were morphologically abnormalwith both eosinophilic and basophilic cytoplasmic granules. Cytochemically, the blasts were positivefor myeloperoxidase while the granules of abnormal eosinophils were positive for naphthol ASDchloroacetate esterase. With flow cytometric immunophenotyping the blasts expressed CD13, CD33,CD117, myeloperoxidase and CD34. Marrow trephine showed 90% cellularity with 40% blastsexpressing CD34, CD117, and myeloperoxidase on immunohistochemistry. Chromosomal analysisreveled a karyotype of 46, XY, inv(16(p13q22. This case illustrates a typical AMML Eo confirmedby a multi-modality diagnostic approach including morphology, cytochemistry, flow cytometry,immunohistochemistry, and conventional cytogenetic study.

  20. Sequential Cross-Species Chromosome Painting among River Buffalo, Cattle, Sheep and Goat: A Useful Tool for Chromosome Abnormalities Diagnosis within the Family Bovidae

    Pauciullo, Alfredo; Perucatti, Angela; Cosenza, Gianfranco; Iannuzzi, Alessandra; Incarnato, Domenico; Genualdo, Viviana; Di Berardino, Dino; Iannuzzi, Leopoldo

    2014-01-01

    The main goal of this study was to develop a comparative multi-colour Zoo-FISH on domestic ruminants metaphases using a combination of whole chromosome and sub-chromosomal painting probes obtained from the river buffalo species (Bubalus bubalis, 2n = 50,XY). A total of 13 DNA probes were obtained through chromosome microdissection and DOP-PCR amplification, labelled with two fluorochromes and sequentially hybridized on river buffalo, cattle (Bos taurus, 2n = 60,XY), sheep (Ovis aries, 2n = 54,XY) and goat (Capra hircus, 2n = 60,XY) metaphases. The same set of paintings were then hybridized on bovine secondary oocytes to test their potential use for aneuploidy detection during in vitro maturation. FISH showed excellent specificity on metaphases and interphase nuclei of all the investigated species. Eight pairs of chromosomes were simultaneously identified in buffalo, whereas the same set of probes covered 13 out 30 chromosome pairs in the bovine and goat karyotypes and 40% of the sheep karyotype (11 out of 27 chromosome pairs). This result allowed development of the first comparative M-FISH karyotype within the domestic ruminants. The molecular resolution of complex karyotypes by FISH is particularly useful for the small chromosomes, whose similarity in the banding patterns makes their identification very difficult. The M-FISH karyotype also represents a practical tool for structural and numerical chromosome abnormalities diagnosis. In this regard, the successful hybridization on bovine secondary oocytes confirmed the potential use of this set of probes for the simultaneous identification on the same germ cell of 12 chromosome aneuploidies. This is a fundamental result for monitoring the reproductive health of the domestic animals in relation to management errors and/or environmental hazards. PMID:25330006

  1. Brain CT in pediatric patients with acquired immunodeficiency syndrome

    Review of the cranial Ct scans of 28 infants and children with acquired immunodeficiency syndrome revealed that cerebral atrophy was the most common finding, occurring in 19 patients. Next most common was basal ganglionic calcification, present in 11 patients without the usual biochemical abnormalities associated with this finding. In ten patients varying degrees of abnormally low attenuation were seen in the white matter. In contrast to the situation in adults, there were no examples of mass lesions due to opportunistic infections. Pathologic specimens were available in eight patients. These confirmed the presence of calcific vasculopathy in four patients with basal ganglionic calcification on CT and showed calcification in an additional four patients. Other findings included glial nodules, tract degeneration, and white matter pallor

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

    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. PMID:27318442

  3. The contribution of cytogenetics and flow cytometry for understanding the karyotype evolution in three Dorstenia (Linnaeus, 1753) species (Moraceae)

    Amaral-Silva, Paulo Marcos; Clarindo, Wellington Ronildo; Carrijo, Tatiana Tavares; Carvalho, Carlos Roberto; Praça-Fontes, Milene Miranda

    2016-01-01

    Abstract Chromosome morphometry and nuclear DNA content are useful data for cytotaxonomy and for understanding the evolutionary history of different taxa. However, the chromosome number is the only karyotype aspect reported for the species of Dorstenia so far. In this study, the nuclear genome size of Dorstenia arifolia (Lamarck, 1786), Dorstenia bonijesu (Carauta & C. Valente, 1983) and Dorstenia elata (Hooker, 1840) was evaluated and their karyotype morphometry accomplished, with the aim of...

  4. Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses.

    Mairal, A; Pinglier, E; Gilbert, E; Peter, M; Validire, P; Desjardins, L; Doz, F; Aurias, A; Couturier, J

    2000-08-01

    We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement with those of karyotypic analysis and with known cytogenetic data. The most frequent imbalances were +6p (13/24 cases), +1q (12/24), -16/-16q (11/24), and +2p (9/24). Recurrent high-level amplifications were observed in 2p23-25 and 1q21. Amplification of 2p23-25, present in 4 cases among which 3 showed double-minute chromosomes, was related to MYCN amplification, as demonstrated by FISH and PCR. No evident correlation was found in this small series between any of the imbalances identified and either the differentiation or the histoprognostic risk. PMID:10862045

  5. KARYOTYPIC STUDY OF THE COMMON INDIAN TOAD, DUTTAPHRYNUS MELANOSTICTUS, FROM JAMMU AND KASHMIR, INDIA

    Neelam Saba

    2014-01-01

    Full Text Available Karyotypic study of two sexes of the toad species, Duttaphrynus melanostictus, was carried out using giemsa staining, C- banding and NOR banding methods, from Jammu and Kashmir, India. The basic chromosome number was found to be 2n=22, fundamental arm number (NF was 44 with all the biarmed chromosomes and no sex chromosome heteromorphism was found. Cbanding and NOR banding was also performed. Paracentric C-band was on the long arm of first homologous pair. Centromeric heterochromatin appeared as darkly stained C-bands on all the chromosomes of diploid complement, whereas Ag-NOR staining showed a pair of nucleolar organizer regions present on pair no. 7 on short arm i.e. 7p in both male and female karyotypes.

  6. Chromosome radiosensitivity and kinetics of proliferation of peripheral lymphocytes in individuals with aneuploid karyotype

    Experimentally investigated was the radiosensitivity of chromosomes and the kinetics of the proliferation of peripheral lymphocytes in patients with aneuploid (DS and TS) and normal karyotype irradiated in vitro in the Go stage of the cell cycle. Trisomic lymphocytes were found to proliferate more rapidly in the in vitro culture and to be more sensitive than diploid cell populations. In monosomic lymphocytes in Turner syndrome patients, the proliferation and incidence of chromosomal abberations was similar to the disomic lines in Down's syndrome patients and in Turner syndrome patients, and to that found in persons with a normal karyotype. The results of the experiment show that there is a relationship between the proliferation rate of peripheral lymphocytes cultures in vitro and the radiosensivity of chromosomes. (author). 1 tab., 3 figs., 11 refs

  7. A karyotypic study of the genus Vulpia Gmel. (Poaceae in Iran

    Amene Faramarzi

    2011-09-01

    Full Text Available Based on the morphological investigations, 5 sepcies of the genus Vulpia grow in Iran. This study concerns the cytotaxonomy of the genus Vulpia Gmel. in Iran. A total of 8 accessions belonging to V. unilateralis, V. myuros, V. persica, V. ciliata and V. hirtiglumis were examined. Mitosis were counted from three root tips of each accession. Diploid numbers counted were 2n=14, 28, 35, 42 with baisic chromosome number x=7. The pentaploidy (2n=5x=35 was observed in V. persica, V. ciliate and V. hirtiglumis and thus ate reported for the first time. The karyotypes and the chromosomal parameters showed an approximately asymmetrical profiles for the species studied. The measured karyotypic parameters revealed significant differences among species studied.

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

    Deng, Yuewen; Du, Xiaodong; Huang, Ronglian; Wang, Qingheng

    2008-02-01

    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 karyotype of the Beihai, Shankou and Dongxing samples had ten metacentric, six submetacentric, and three subtelocentric chromosome pairs. No significant difference was shown in the centromeric index values of the chromosomes in the 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. Study of the karyotype of Oryzoborus maximiliani (Passeriformes - Aves using young feather pulp cultures

    Beatriz Goldschmidt

    2000-06-01

    Full Text Available The investigation of the karyotype of Oryzoborus maximiliani in living birds utilizing young feather pulp culture is described. The species karyotype was established as 2n = 72 with unequivocal identification of the sexual chromosome pair. Evolutionary considerations are raised.Foram estudados citogeneticamente vinte exemplares da espécie Oryzoborus maximiliani provenientes de criatórios do Estado do Rio de Janeiro. Foi aplicada a técnica de cultura de curta duração de polpa de penas jovens, permitindo a investigação nas aves vivas. O cariótipo da espécie foi estabelecido (2n = 72 com identificação do par sexual. Considerações evolutivas são abordadas.

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

    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 %.

  11. Inhibitors against the coagulation factors spontaneously acquired: Acquired B Hemophilia

    Claudia Lucía Sossa Melo; Sara Inés Jiménez Sanguino; Pilar Rodríguez

    2003-01-01

    Spontaneously acquired inhibitors to factor IX, are extremely rare. A 70-year-old male, presented with major continuous post-orthopedic surgery bleeding. His initial APTT was 77.4 s (normal range, 25-36) and normal PT. Expanded APTT corrects, results in favor of deficit of factor IX, confirming the level of dose of IX factor: 52% (NR 70–125%) with normal factor VIII. It was realized with fresh frozen plasma, and by the fifth day of treatment, he presents a bruise in the surgery bed with radic...

  12. Abnormal position of lymph nodes in a freemartin sheep

    Salazar PA

    2012-03-01

    Full Text Available Angela M Gonella-Diaza, Luz Zoraya Duarte, Sergio Dominguez, Pedro A SalazarClínica de Grandes Animales, Facultad de Medicina Veterinaria y de Zootecnia, Universidad Cooperativa de Colombia, Bucaramanga, Santander, ColombiaAbstract: In this freemartin case report the authors present the clinical and morphological findings of a freemartin ewe with an abnormal position of two lymph nodes. Freemartins, infertile females from mixed-sex twin pregnancies, are chimeras, having two cell populations: one of their own (XX DNA and one from their male twin (XY DNA. Freemartins can have varying degrees of phenotypic masculinization, including, in some cases, having active male gonads and exhibiting male behaviors such as heat detection and aggressiveness. During the clinical examination of the freemartin ewe, a morphological abnormality of the vulva, the presence of scrotal sacs, and a lack of mammary tissue development were noted. On inspection of the vaginal channel, an extremely enlarged clitoris, resembling a penis, was found. The clinical evidence suggested freemartinism. After the karyotyping diagnosis confirmation, a necropsy was performed and samples were taken for histology and immunohistochemistry. There were two structures found in the scrotal sacs; however, these were found to be lymph nodes, not testicles, and this was confirmed by CD3 lymph protein coloration. On histological study, the phallic structure showed corpus cavernosum and tunica albuginea. The testicles were found retained inside the abdominal cavity, with the presence of atrophic seminiferous tubules. Although the position of the testicles in freemartins has been reported as highly variable, this is the first time, to the best of the authors' knowledge, that a case has been reported where lymph nodes have been found inside the scrotal sacs. It is possible that these were the inguinal lymph nodes, trapped inside the scrotum during fetal growth and development.Keywords: freemartinism

  13. Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

    Carmen Comas

    2012-11-01

    Full Text Available Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS screening tests and fetal karyotypes obtained by prenatal invasive testing (IT in our fetal medicine unit between January 1999 and December 2011. Results: A total of 24,226 prenatal screening tests for DS and 11,045 invasive procedures have been analyzed. Over a 13-year period, utilization of non-invasive screening methods has significantly increased from 57% to 89%. The percentage of invasive procedures has declined from 49% to 12%, although the percentage of IT performed for maternal anxiety has increased from 22% to 55%. The percentage of detected CA increased from 2.5% to 5.9%. Overall, 31 invasive procedures are needed to diagnose 1 abnormal case, being 23 procedures in medical indications and 241 procedures in non-medical indications. Conclusions: Our experience on screening and invasive prenatal diagnostic practice shows a decrease of the number of IT, with a parallel decline in medical indications. There is an increasing efficiency of prenatal screening program to detect CA. Despite the increasing screening policies, our population shows a growing request for prenatal IT. The a priori low risk population shows a not negligible residual risk for relevant CA. This observation challenges the current prenatal screening strategy focused on DS; showing that the residual risk is higher than the current cut-off used to indicate an invasive technique.

  14. Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

    Comas, Carmen; Echevarria, Mónica; Rodríguez, María Ángeles; Rodríguez, Ignacio; Serra, Bernat; Cirigliano, Vincenzo

    2012-01-01

    Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and December 2011. Results: A total of 24,226 prenatal screening tests for DS and 11,045 invasive procedures have been analyzed. Over a 13-year period, utilization of non-invasive screening methods has significantly increased from 57% to 89%. The percentage of invasive procedures has declined from 49% to 12%, although the percentage of IT performed for maternal anxiety has increased from 22% to 55%. The percentage of detected CA increased from 2.5% to 5.9%. Overall, 31 invasive procedures are needed to diagnose 1 abnormal case, being 23 procedures in medical indications and 241 procedures in non-medical indications. Conclusions: Our experience on screening and invasive prenatal diagnostic practice shows a decrease of the number of IT, with a parallel decline in medical indications. There is an increasing efficiency of prenatal screening program to detect CA. Despite the increasing screening policies, our population shows a growing request for prenatal IT. The a priori low risk population shows a not negligible residual risk for relevant CA. This observation challenges the current prenatal screening strategy focused on DS; showing that the residual risk is higher than the current cut-off used to indicate an invasive technique. PMID:26859399

  15. Fluorescence In Situ Hybridization–Based Karyotyping of Soybean Translocation Lines

    Findley, Seth D.; Pappas, Allison L.; Cui, Yaya; Birchler, James A.; Palmer, Reid G.; Stacey, Gary

    2011-01-01

    Soybean (Glycine max [L.] Merr.) is a major crop species and, therefore, a major target of genomic and genetic research. However, in contrast to other plant species, relatively few chromosomal aberrations have been identified and characterized in soybean. This is due in part to the difficulty of cytogenetic analysis of its small, morphologically homogeneous chromosomes. The recent development of a fluorescence in situ hybridization –based karyotyping system for soybean has enabled our charact...

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

    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. PMID:1778231

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

    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. PMID:26273223

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

    Carlos Baeza; Eduardo Ruiz; María Negritto

    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" 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 populatio...

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

    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.

  20. Association of electrophoretic karyotype of Candida stellatoidea with virulence for mice

    Seven isolates of Candida stellatoidea were studied for their electrophoretic karyotype, virulence for mice, sensitivity to UV radiation, growth rate in vitro, reaction on cycloheximide-indicator medium, and proteinase activity. The isolates exhibited one of two distinct electrophoretic karyotypes as determined by orthogonal field alternating gel electrophoresis (OFAGE). Four isolates, including the type culture of C. stellatoidea, belonged to electrophoretic karyotype type I by OFAGE, showing eight to nine bands of which at least two bands were less than 1,000 kilobases in size as estimated by comparison with the DNA bands of Saccharomyces cerevisiae. These isolates failed to produce fatal infection in mice within 20 days when 5 X 10(5) cells were injected intravenously. The yeasts were cleared from the kidneys of two of three mice tested by day 30. Type I showed proteinase activity on bovine serum albumin agar at pH 3.8 and produced a negative reaction on cycloheximide-bromcresol green medium within 48 h. The three grouped in type II by OFAGE showed banding patterns similar to those of a well-characterized isolate of Candida albicans. The isolates of type II had an electrophoretic karyotype of six to seven bands approximately 1,200 kilobases or greater in size. All three type II isolates were highly virulent for mice, producing fatality curves similar to those of a previously studied C. albicans isolate. From 80 to 90% of the mice injected with 5 X 10(5) cells intravenously died within 20 days. The type II isolates produced a positive reaction on cycloheximide-bromcresol green agar and showed no proteinase activity on bovine serum albumin agar at the low pH. In addition, the type II isolates grew faster and were significantly more resistant to UV irradiation than the type I isolates

  1. Karyotypes of three species of molossid bats (Molossidae, Chiroptera) from India and western Africa

    Sreepada, K. S.; Koubínová, D.; Konečný, Adam; Koubek, Petr; Ráb, Petr; Rábová, Marie; Zima, Jan

    2008-01-01

    Roč. 57, č. 4 (2008), s. 347-357. ISSN 0139-7893 R&D Projects: GA AV ČR IAA6093403; GA MŠk LC06073 Institutional research plan: CEZ:AV0Z60930519; CEZ:AV0Z50450515 Keywords : bats * karyotype evolution * chromosome banding Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.522, year: 2008 http://www.ivb.cz/folia/57/4/347-357_MS1427.pdf

  2. Chromosomal Diversity and Karyotype Evolution in South American Macaws (Psittaciformes, Psittacidae)

    de Oliveira Furo, Ivanete; Kretschmer, Rafael; O’Brien, Patrícia C.; Ferguson-Smith, Malcolm A.; de Oliveira, Edivaldo Herculano Corrêa

    2015-01-01

    Most species of macaws, which represent the largest species of Neotropical Psittacidae, characterized by their long tails and exuberant colours, are endangered, mainly because of hunting, illegal trade and habitat destruction. Long tailed species seem to represent a monophyletic group within Psittacidae, supported by cytogenetic data. Hence, these species show karyotypes with predominance of biarmed macrochromosomes, in contrast to short tailed species, with a predominance of acro/telocentric macrochromosomes. Because of their similar karyotypes, it has been proposed that inversions and translocations may be the main types of rearrangements occurring during the evolution of this group. However, only one species of macaw, Ara macao, that has had its genome sequenced was analyzed by means of molecular cytogenetics. Hence, in order to verify the rearrangements, we analyzed the karyotype of two species of macaws, Ara chloropterus and Anodorhynchus hyacinthinus, using cross-species chromosome painting with two different sets of probes from chicken and white hawk. Both intra- and interchromosomal rearrangements were observed. Chicken probes revealed the occurrence of fusions, fissions and inversions in both species, while the probes from white hawk determined the correct breakpoints or chromosome segments involved in the rearrangements. Some of these rearrangements were common for both species of macaws (fission of GGA1 and fusions of GGA1p/GGA4q, GGA6/GGA7 and GGA8/GGA9), while the fissions of GGA 2 and 4p were found only in A. chloropterus. These results confirm that despite apparent chromosomal similarity, macaws have very diverse karyotypes, which differ from each other not only by inversions and translocations as postulated before, but also by fissions and fusions. PMID:26087053

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

    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%)

  4. The Karyotype of Malania oleifera%蒜头果的核型

    杨鲁红; 丁开宇; 陆树刚

    2003-01-01

    Inthis paper, the kmyotype of Molania oleifera Chun et Lee has been reported for the first time. The result shows that the number of the somatic chromosome of the species is 26, and its basic chro-mosome number is x = 13. The hayotype fonmtla is 2n = 2x = 24m (2SAT) + 2sin, and belongs to 1A type of Stebbins karyotypic symmetry.

  5. Dynamic karyotype evolution and unique sex determination systems in Leptidea wood white butterflies

    VOLENÍKOVÁ, Anna

    2015-01-01

    Chromosomal rearrangements such as fusions and fissions play an important role in promoting and maintaining speciation. To study these phenomena, genome architecture of three cryptic species of Leptidea wood white butterflies was investigated by means of standard and molecular cytogenetics. High variability in chromosome number and localization of cytogenetic markers was revealed, suggesting dynamic karyotype evolution in these species. Moreover, unique sex-determination system with 3-4 W chr...

  6. Comparative cytogenetics in the genus Hoplias (Characiformes, Erythrinidae) highlights contrasting karyotype evolution among congeneric species

    de Oliveira, Ezequiel Aguiar; Bertollo, Luiz Antônio Carlos; Yano, Cassia Fernanda; Liehr, Thomas; Cioffi, Marcelo de Bello

    2015-01-01

    Background The Erythrinidae fish family contains three genera, Hoplias, Erythrinus and Hoplerythrinus widely distributed in Neotropical region. Remarkably, species from this family are characterized by an extensive karyotype diversity, with 2n ranging from 39 to 54 chromosomes and the occurrence of single and/or multiple sex chromosome systems in some species. However, inside the Hoplias genus, while H. malabaricus was subject of many studies, the cytogenetics of other congeneric species rema...

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

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

    2014-01-01

    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-chromoso...

  8. A karyotype comparison among 3 species of Allactaga (Mammalia: Dipodidae) from central Iran

    RAHIMI-POZVE, Maryam; MALEKIAN, Mansoureh; HEMAMI, Mahmoud Reza

    2015-01-01

    We studied karyotype and chromosomal characteristics of 3 species of five-toed jerboa from central Iran, including Allactaga firouzi, A. williamsi, and A. elater. This study revealed that the 3 species possessed a diploid number of 48 chromosomes. The first pair of chromosomes was significantly larger than other chromosomes in all 3 species. The total length of the haploid genome of Allactaga elater was longer than those of the other 2 species, and most of the chromosomes of the 3 species wer...

  9. Chromosomal Diversity and Karyotype Evolution in South American Macaws (Psittaciformes, Psittacidae).

    de Oliveira Furo, Ivanete; Kretschmer, Rafael; O'Brien, Patrícia C; Ferguson-Smith, Malcolm A; de Oliveira, Edivaldo Herculano Corrêa

    2015-01-01

    Most species of macaws, which represent the largest species of Neotropical Psittacidae, characterized by their long tails and exuberant colours, are endangered, mainly because of hunting, illegal trade and habitat destruction. Long tailed species seem to represent a monophyletic group within Psittacidae, supported by cytogenetic data. Hence, these species show karyotypes with predominance of biarmed macrochromosomes, in contrast to short tailed species, with a predominance of acro/telocentric macrochromosomes. Because of their similar karyotypes, it has been proposed that inversions and translocations may be the main types of rearrangements occurring during the evolution of this group. However, only one species of macaw, Ara macao, that has had its genome sequenced was analyzed by means of molecular cytogenetics. Hence, in order to verify the rearrangements, we analyzed the karyotype of two species of macaws, Ara chloropterus and Anodorhynchus hyacinthinus, using cross-species chromosome painting with two different sets of probes from chicken and white hawk. Both intra- and interchromosomal rearrangements were observed. Chicken probes revealed the occurrence of fusions, fissions and inversions in both species, while the probes from white hawk determined the correct breakpoints or chromosome segments involved in the rearrangements. Some of these rearrangements were common for both species of macaws (fission of GGA1 and fusions of GGA1p/GGA4q, GGA6/GGA7 and GGA8/GGA9), while the fissions of GGA 2 and 4p were found only in A. chloropterus. These results confirm that despite apparent chromosomal similarity, macaws have very diverse karyotypes, which differ from each other not only by inversions and translocations as postulated before, but also by fissions and fusions. PMID:26087053

  10. Codling moth cytogenetics: karyotype, sex-chromosome differentiation and development of W-chromosome painting probes

    Marec, František; Fuková, Iva; Vítková, Magda; Korchová, Marie; Kubíčková, S.; Traut, W.

    Vienna : IAEA, 2004, s. 55-66. [ FAO /IAEA Research Co-ordination Meeting within the FAO /IAEA /2./. Stellenbosch (ZA), 08.03.2004-12.03.2004] R&D Projects: GA AV ČR IAA6007307; GA AV ČR KSK5052113 Grant ostatní: IAEA(AT) 12055/R Institutional research plan: CEZ:AV0Z5007907 Keywords : Cydia pomonella * karyotype Subject RIV: EB - Genetics ; Molecular Biology

  11. Memetics clarification of abnormal behavior

    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

  12. Karyotyping and identifying all of the chromosomes of allopolyploid Brassica juncea using multicolor FISH

    Zhijun Xu

    2016-08-01

    Full Text Available Chromosome identification and karyotype using fluorescence in situ hybridization (FISH provides a technical platform for genome and cytogenetic studies. Brassica juncea (brown mustard, 2n = 4 × = 36; genome AABB is an allopolyploid species that originated from a spontaneous hybridization of Brassica rapa and Brassica nigra and contains many valuable traits. In this study, a multicolor FISH procedure allowing the identification of all 18 chromosomal pairs was developed by two-step hybridizations with probes on the same metaphase chromosomes. The distribution patterns and chromosomal localizations of six repeat sequences (satellite repeat pBrSTR, 5S rDNA, 45S rDNA, B genome-specific repeat pBNBH35, and centromeric satellite repeats CentBr1 and CentBr2 on B. juncea chromosomes were characterized. Comparative karyotype analyses showed that the genome is relatively stable in comparison with its diploid progenitor species and revealed intraspecific karyotypic diversity among three accessions of B. juncea. This study provides valuable information about the genome evolution of B. juncea and a toolkit that will be helpful for chromosome identification.

  13. Cytotaxonomy of the Ciconiiformes (Aves), with karyotypes of eight species new to cytology.

    de Boer, L E; van Brink, J M

    1982-01-01

    Somatic karyotypes of 13 species of ciconiiform birds, Phoenicopterus ruber chilensis, Phoeniconaias minor, Cochlearius cochlearius, Geronticus eremita, Threskiornis molucca, T. spinicollis, Balaeniceps rex, Ciconia ciconia, C. nigra, Euxenura maguari, Xenorhynchus asiaticus, Ephippiorhynchus senegalensis, and Leptoptilos crumeniferus are presented. The chromosomes of eight of these species are described in detail for the first time. Of special interest are a case of structural heterozygosity in a male B. rex and remarkably low diploid numbers in C. nigra (2n = ca 52) and L. crumeniferus (2n = ca 52). The karyological relationships of the ciconiiform families are discussed. The karyotypes of the Phoenicopteridae are identical to karyotypes found in various other bird orders. All members of the Ardeidae hitherto studied are characterized by a submetacentric third pair of macrochromosomes (subtelocentric in all other Ciconiiformes). All Threskiornithidae share a pair of acrocentric chromosomes resulting from a reciprocal translocation between a pair of microchromosomes and pair No. 1. Both the Ciconiidae and the Balaenicipitidae show the original structure of Nos. 1, 2 and 3, also found in the Phoenicopteridae and many other birds. In contrast to the Phoenicopteridae, however, both families share a relatively high number of medium-sized to small biarmed chromosomes with the Ardeidae and the Threskiornithidae. Several characteristics in this group of chromosomes separate Balaenicipitidae from Ciconiidae. PMID:7151490

  14. Karyotype morphology and evolution in some Lathyrus (Fabaceae species of southern Brazil

    Klamt Adriane

    2000-01-01

    Full Text Available The karyotypes of Lathyrus nervosus Lam., L. pubescens Hook. et Arn., L. paranensis Burk. and L. crassipes Gill ap. Hook et Arn., native to Rio Grande do Sul (southern Brazil, are described in detail for the first time. All taxa have 2n = 14 chromosomes. The karyotypic formulae were 2 m + 12 sm for L. nervosus, L. pubescens and L. paranensis and 4 m + 10 sm for L. crassipes. In all species, the smallest chromosome pair bore a secondary constriction with a satellite in the long arm. Intraspecific variability in the position and number of secondary constrictions was observed in L. nervosus and L. pubescens. All of the species had a conservative and similar karyotype morphology, but differed in total complement size by as much as 20% between the highest (L. nervosus and lowest (L. crassipes values. These results suggest that changes in chromosome size during evolution have been similar for all the chromosomes of the complement. Together with data on the life cycle and mode of reproduction, these results also indicate that L. crassipes is a derived taxon, if an evolutionary trend towards a decrease in chromosome size is accepted.

  15. Complex karyotype in a case of cutaneous lymphangiosarcoma associated with chronic lymphedema of the lower limb.

    Marando, Alessandro; Bernasconi, Barbara; Sabatino, Daniele; Militti, Lucia; Capella, Carlo

    2014-12-01

    Lymphangiosarcoma is a rare malignant neoplasm of endothelial cells. The term is used to describe an angiosarcoma associated with chronic lymphedema. The skin of the head and neck region is the most common site of origin. Rather few cytogenetic studies on lymphangiosarcoma are reported in the literature. We here describe a case of an 87-year-old woman, with a history of recurring lymphangitis and with an ulcerated nodular lesion of the leg. The histological diagnosis was a malignant neoplasm of vascular origin, with the morphological and immunohistochemical features of a lymphangiosarcoma. A series of antibodies (CD31, CD34, vimentin, podoplanin and HHV-8), conventional and molecular cytogenetic and Spectral Karyotyping (SKY-FISH) analyses were used to study this case. The immunohistochemical evaluation revealed that the neoplasm was positive for vimentin, CD31, CD34 and podoplanin and negative for HHV-8. The proliferation rate (Ki-67) was about 70%. Karyotype was defined using conventional cytogenetic and SKY-FISH. In addition, high-level of amplification was observed with MYC split signal probe. The morphological and immunohistochemical evaluations supported the diagnosis of lymphangiosarcoma. Moreover, the cytogenetic and molecular findings contributed towards accurately defining the karyotypic aberrations of this rare sarcoma. PMID:24947410

  16. Variation in morphotype, karyotype and DNA type of fluconazole resistant Candida albicans from an AIDS patient.

    Takasuka, T; Baily, G G; Birch, M; Anderson, M J; Law, D; Denning, D W

    1998-01-01

    Azole-resistant oropharyngeal and oesophageal candidiasis is a recent phenomenon observed in patients with AIDS usually previously treated with fluconazole. Some variation has been observed in antifungal susceptibility testing among separate colonies of Candida albicans from the same patient. This raises the question of whether there are multiple clones present or simply phenotypic variation in expression of azole resistance. To address this question we took 18 isolates grown from multiple swabs taken before and after experimental azole therapy from a single HIV-positive individual with fluconazole-resistant oral candidiasis and compared morphotype, karyotype, PCR-based DNA typing and azole susceptibility. Ten of the isolates were from a single 2-day period. Amongst these 10 there were seven morphotypes, five karyotypes and four polymerase chain reaction (PCR) types. Three further morphotypes, one karyotype and two PCR types were found amongst the eight isolates obtained during the subsequent 4 months. Limited variation in susceptibility to two azoles--fluconazole and D0870--was also seen. This work emphasizes both the large genotype and phenotypic variability of C. albicans isolates in the mouth of AIDS patients with fluconazole resistance, and the difficulties in interpretation of present typing methods. PMID:9515670

  17. Sex chromosomes and karyotype of the (nearly) mythical creature, the Gila monster, Heloderma suspectum (Squamata: Helodermatidae).

    Johnson Pokorná, Martina; Rovatsos, Michail; Kratochvíl, Lukáš

    2014-01-01

    A wide variety of sex determination systems exist among squamate reptiles. They can therefore serve as an important model for studies of evolutionary transitions among particular sex determination systems. However, we still have only a limited knowledge of sex determination in certain important lineages of squamates. In this respect, one of the most understudied groups is the family Helodermatidae (Anguimorpha) encompassing the only two venomous species of lizards which are potentially lethal to human beings. We uncovered homomorphic ZZ/ZW sex chromosomes in the Gila monster (Heloderma suspectum) with a highly heterochromatic W chromosome. The sex chromosomes are morphologically similar to the ZZ/ZW sex chromosomes of monitor lizards (Varanidae). If the sex chromosomes of helodermatids and varanids are homologous, female heterogamety may be ancestral for the whole Anguimorpha group. Moreover, we found that the karyotype of the Gila monster consists of 2n = 36 chromosomes (14 larger metacentric chromosomes and 22 acrocentric microchromosomes). 2n = 36 is the widely distributed chromosomal number among squamates. In his pioneering works representing the only previous cytogenetic examination of the family Helodermatidae, Matthey reported the karyotype as 2n = 38 and suggested a different chromosomal morphology for this species. We believe that this was probably erroneously. We also discovered a strong accumulation of telomeric sequences on several pairs of microchromosomes in the Gila monster, which is a trait documented relatively rarely in vertebrates. These new data fill an important gap in our understanding of the sex determination and karyotype evolution of squamates. PMID:25119263

  18. Sex chromosomes and karyotype of the (nearly mythical creature, the Gila monster, Heloderma suspectum (Squamata: Helodermatidae.

    Martina Johnson Pokorná

    Full Text Available A wide variety of sex determination systems exist among squamate reptiles. They can therefore serve as an important model for studies of evolutionary transitions among particular sex determination systems. However, we still have only a limited knowledge of sex determination in certain important lineages of squamates. In this respect, one of the most understudied groups is the family Helodermatidae (Anguimorpha encompassing the only two venomous species of lizards which are potentially lethal to human beings. We uncovered homomorphic ZZ/ZW sex chromosomes in the Gila monster (Heloderma suspectum with a highly heterochromatic W chromosome. The sex chromosomes are morphologically similar to the ZZ/ZW sex chromosomes of monitor lizards (Varanidae. If the sex chromosomes of helodermatids and varanids are homologous, female heterogamety may be ancestral for the whole Anguimorpha group. Moreover, we found that the karyotype of the Gila monster consists of 2n = 36 chromosomes (14 larger metacentric chromosomes and 22 acrocentric microchromosomes. 2n = 36 is the widely distributed chromosomal number among squamates. In his pioneering works representing the only previous cytogenetic examination of the family Helodermatidae, Matthey reported the karyotype as 2n = 38 and suggested a different chromosomal morphology for this species. We believe that this was probably erroneously. We also discovered a strong accumulation of telomeric sequences on several pairs of microchromosomes in the Gila monster, which is a trait documented relatively rarely in vertebrates. These new data fill an important gap in our understanding of the sex determination and karyotype evolution of squamates.

  19. Karyotype patterns of Hypsolebias antenori (Cyprinodontiformes: Rivulidae): an endangered killifish of the semiarid region of Brazil.

    do Nascimento, Wallace Silva; Bezerra, Juliana Galvão; Lima-Filho, Paulo Augusto; Yamamoto, Maria Emília; Chellappa, Sathyabama; Molina, Wagner Franco

    2014-01-01

    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 + 4 sm + 36 st; 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. PMID:24693249

  20. Thyroid abnormality in perimenopausal women with abnormal uterine bleeding

    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

  1. Abnormal Cervical Cancer Screening Test Results

    ... AQ FREQUENTLY ASKED QUESTIONS FAQ187 GYNECOLOGIC PROBLEMS Abnormal Cervical Cancer Screening Test Results • What is cervical cancer screening? • What causes abnormal cervical cancer screening test ...

  2. Knowledge transfer - Acquiring implicit knowledge

    Many organisations have recognised the problem of experts taking home a huge amount of specific knowledge, which they have gathered in their department, when they leave. The successor is capable only of acquiring explicit expertise because implicit experiences are not documented and therefore no more available. That is why we have started this pilot study in order to try to conserve the above mentioned tacit and implicit knowledge and to make it available to other colleagues. Using a semi-standardised interview we elicit tacit knowledge from the expert and summarise it in a report. This interview-guideline forms the basis of in-depth investigation for implicit knowledge. (author)

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

    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.

  4. Knee loading for abnormal gait

    Hutchison, J.; Madsen, D.; Norman, T. L.; -Blaha, J. D.

    2014-01-01

    The purpose of the study was to develop a mathematical model for determining knee loads for abnormal gait. Abnormal gait was defined as a person with varus, i.e. “bowleggedness”, or a person who had an external rotation of the femur (or the inability to internally rotate the femur) which caused an indirect varus in the forward positions of gait. Conditions such as these have been observed clinically to result in increased wear on the medial condyle of total knee replacements. This problem was...

  5. A novel chromosomal abnormality t (9;14(p24;q13 in B-acute lymphoblastic leukemia

    Sureshkumar Raveendran

    2014-01-01

    Full Text Available Acute lymphoblastic leukemia is a malignant disease of the bone marrow in which early lymphoid precursors proliferate and replace the normal hematopoietic cells of the marrow. We describe the clinical, morphologic, immunophenotypic and cytogenetic findings in the case of a 26-year-old man with B-lymphoblastic leukemia. Surface marker analysis revealed that they are positive for CD markers CD10, CD19, CD13, CD34, CD45 and HLA-DR, but negative for CD20, CD33, CD117 and CD11C markers. Cytogenetic analysis established a novel translocation, t (9;14(p24;q13. Apart from this, spectral karyotyping revealed an additional translocation, t (6p; 14q. This is the first documented case of B-lymphoblastic leukemia with concurrent occurrence of both abnormalities. Further studies are needed to understand the role of this abnormality in carcinogenesis.

  6. Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy.

    Herling, Carmen Diana; Klaumünzer, Marion; Rocha, Cristiano Krings; Altmüller, Janine; Thiele, Holger; Bahlo, Jasmin; Kluth, Sandra; Crispatzu, Giuliano; Herling, Marco; Schiller, Joanna; Engelke, Anja; Tausch, Eugen; Döhner, Hartmut; Fischer, Kirsten; Goede, Valentin; Nürnberg, Peter; Reinhardt, Hans Christian; Stilgenbauer, Stephan; Hallek, Michael; Kreuzer, Karl-Anton

    2016-07-21

    Genetic instability is a feature of chronic lymphocytic leukemia (CLL) with adverse prognosis. We hypothesized that chromosomal translocations or complex karyotypes and distinct somatic mutations may impact outcome after first-line chemoimmunotherapy of CLL patients. We performed metaphase karyotyping and next-generation sequencing (NGS) of 85 genes in pretreatment blood samples obtained from 161 patients registered for CLL11, a 3-arm phase 3 trial comparing frontline chlorambucil (Clb) vs Clb plus rituximab (Clb-R) or Clb plus obinutuzumab in CLL patients with significant comorbidity. Chromosomal aberrations as assessed by karyotyping were observed in 68.8% of 154 patients, 31.2% carried translocations, and 19.5% showed complex karyotypes. NGS revealed 198 missense/nonsense mutations and 76 small indels in 76.4% of patients. The most frequently mutated genes were NOTCH1, SF3B1, ATM, TP53, BIRC3, POT1, XPO1, and KRAS Sole chemotherapy, treatment with Clb-R, or genetic lesions in TP53 (9.9% of patients) and KRAS (6.2% of patients) were significantly associated with nonresponse to study therapy. In multivariate models, complex karyotypes and POT1 mutations (8.1% of patients) represented significant prognostic factors for an unfavorable survival, independently of IGHV mutation status, Binet stage, and serum β-2-microglobuline. Patients with the copresence of complex karyotypes and deletions/mutations involving TP53 demonstrated a particularly short survival. In summary, this is the first prospective, controlled study in CLL patients that shows a role of complex karyotype aberrations as an independent prognostic factor for survival after front-line therapy. Moreover, the study identifies mutations in KRAS and POT1 as novel determinants of outcome after chemoimmunotherapy using chlorambucil and anti-CD20 treatment. PMID:27226433

  7. Sperm abnormalities in exposed humans

    Šrám, Radim; Rubeš, J.

    Cambridge : Issue in Toxicology, Royal Society of Chemistry Publ.,, 2007, s. 247-258. ISBN 978-0-85404-847-2 R&D Projects: GA MŽP SL/740/5/03 Institutional research plan: CEZ:AV0Z50390512 Keywords : air pollution exposure * sperm abnormalities * male reproductive health Subject RIV: DN - Health Impact of the Environment Quality

  8. Pseudomona pseudomallei community acquired pneumonia

    This is the first published case report en Colombia about pseudomona pseudomallei community acquired pneumonia. This uncommon pathogen is from the epidemiological standpoint a very important one and medical community should be aware to look after it in those patients where no other etiological pathogen is recovered. A brief summary about epidemiology is showed, emphasizing those regions where it can be found. Likewise, comments about the differential diagnosis are important since it should be considered in those patients where tuberculosis is suspected. This is particularly representative for countries with high tuberculosis rates. Furthermore, a microbiological review is shown, emphasizing on isolation techniques, descriptions about therapeutics and other regarding treatment issues according international standards. Finally; a description about the clinical picture, laboratory findings, treatment and evolution of the case reported are shown for discussion

  9. Complement's participation in acquired immunity

    Nielsen, Claus Henrik; Leslie, Robert Graham Quinton

    2002-01-01

    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.......The preliminary evidence for the involvement of complement in promoting primary humoral responses dates back over a quarter of a century. However, it is only in the course of the past decade or so that the detailed mechanisms underlying complement's influence have been characterized in depth. It is...

  10. Acquired vulval lymphangiectases mimicking genital warts

    Sharma Rajeev; Tomar Sudarshan; Chandra Mithilesh

    2002-01-01

    Acquired lymphangiectasia can sometimes occur on the vulva and cause diagnostic difficulties especially if they have a warty appearance. We report a case of acquired vulva I lymphangiectasia which mimicked genital warts.

  11. Acquired vulval lymphangiectases mimicking genital warts

    Sharma Rajeev

    2002-01-01

    Full Text Available Acquired lymphangiectasia can sometimes occur on the vulva and cause diagnostic difficulties especially if they have a warty appearance. We report a case of acquired vulva I lymphangiectasia which mimicked genital warts.

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

    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

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

    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. PMID:26706459

  14. Magnetic resonance imaging of articular cartilage abnormalities of the far posterior femoral condyle of the knee

    Ogino, Shuhei; Huang, Thomas; Watanabe, Atsuya; Iranpour-Boroujeni, Tannaz; Yoshioka, Hiroshi (Dept. of Radiology, Brigham and Women' s Hospital, Boston, MA (United States)), e-mail: hiroshi@uci.edu

    2010-01-15

    Background: Incidental articular cartilage lesions of the far posterior femoral condyle (FPFC) are commonly detected. Whether or not these cartilage lesions are symptomatic or clinically significant is unknown. Purpose: To characterize and assess prevalence of articular cartilage abnormalities of the FPFC and associated bone marrow edema (BME) and/or internal derangements through magnetic resonance (MR) images. Material and Methods: 654 knee MR examinations were reviewed retrospectively. Sagittal fast spin-echo proton density-weighted images with and without fat suppression were acquired with a 1.5T scanner, and were evaluated by two readers by consensus. The following factors were assessed: 1) the prevalence of cartilage abnormalities, 2) laterality, 3) the type of cartilage abnormalities, 4) cartilage abnormality grading, 5) associated BME, 6) complications such as meniscal injury and cruciate ligament injury, and 7) knee alignment (femorotibial angle [FTA]). Results: Articular cartilage abnormalities of the FPFC were demonstrated in 157 of the 654 patients (24%). Of these, 40 patients demonstrated medial and lateral FPFC cartilage abnormalities and were thus counted as 80 cases. Focal lateral FPFC abnormalities were demonstrated in 117 of 197 cases (59.4%), while diffuse lateral FPFC abnormalities were demonstrated in 24 of 197 cases (12.2%). Focal medial FPFC abnormalities were demonstrated in 23 of 197 cases (11.6%), while diffuse medial FPFC abnormalities were demonstrated in 33 of 197 cases (16.8%). No statistically significant pattern of associated BME, FTA, or internal derangements including meniscal and cruciate ligament injury was demonstrated. Conclusion: Articular cartilage abnormalities of the FPFC are common and were demonstrated in 24% of patients or 30% of cases. Lateral FPFC abnormalities occur 2.5 times more frequently than medial FPFC abnormalities and were more frequently focal compared with medial cohorts. BME is associated in 36.5% of cases

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

    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. PMID:27193170

  16. Karyotype Analysis of Malvaviscus arboreus Cav. (Malvaceae)%锦葵科悬铃花的核型分析

    黄碧兰; 张玄兵; 范红霞

    2014-01-01

    The karyotype analysis of Malvaviscus arboreus Cav. was studied by using root-tip squashing method. The results showed that the number of chromosomes in somatic cells of Malvaviscus arboreus Cav. was 2n=2x=28, the relative length of chromosome was 2n=2x=28=2L+10M2+8M1+6S, and the karyotype asymmetry index was 0.5995. This species belongs to the 2B karyotypic symmetry class with a 20m+8sm karyotype formula. This study will provide the basis and reference for future work on karyotype analysis in genus of Malvaviscus arboreus Cav..%利用根尖压片法对悬铃花进行核型分析。结果表明:悬铃花体细胞的染色体数为2n=28,相对长度系数组成为:2L+10M2+8M1+6S,核型不对称系数为:59.95%;其核型公式为:20m+8sm,属2B 核型。为今后锦葵科悬铃花属植物核型分析研究提供一定的借鉴和依据。

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

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

    2012-01-01

    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. PMID:22429690

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

    Idziak, Dominika; Hazuka, Iwona; Poliwczak, Beata; Wiszynska, Anna; Wolny, Elzbieta; Hasterok, Robert

    2014-01-01

    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. PMID:24675822

  20. Karyotypic diversity among three species of the genus Astyanax (Characiformes: Characidae).

    Nishiyama, P B; Vieira, M M R; Porto, F E; Borin, L A; Portela-Castro, A L B; Santos, I C M

    2016-06-01

    The group Incertae sedis within the Characidae family currently includes 88 genera, previously included in the subfamily Tetragonopterinae. Among them is the genus Astyanax comprising a group of species with similar morphology and widely distributed in the Neotropics. Thus, the present study aimed to analyze the karyotype diversity in Astyanax species from different watersheds by conventional Giemsa staining, C-banding and fluorescence in situ hybridization (FISH rDNA 18S) probe.specimens of Astyanax aff. paranae belonging to the "scabripinnis complex", Astyanax asunsionensis and Astyanax aff. bimaculatus were analyzed". Two sympatric karyomorphs were observed in Astyanax.aff paranae, one of them having2n=48andthe other one with 2n=50 chromosomes. Other population of this same species also presented 2n=50 chromosomes, but differing in the karyotype formula and with macro supernumerary chromosome found in 100% of the cells in about 80%of females analyzed. Two population of A. asuncionensis and one population of Astyanax. aff. bimaculatus, also showed a diploid number of 50 chromosomes, but also differing in their karyotype formulas. Therefore, A. asuncionensis was also characterized by intraspecific chromosome diversity. The C-banding analysis was able to demonstrate a distinctable to demonstrate a distinct pattern of heterochromatin differing A. asuncionensis from Astyanax aff. paranae and Astyanax aff. bimaculatus. The supernumerary chromosome of Astyanax aff. paranae proved completely heterochromatic. Only Astyanax.aff. bimaculatus multiple showed multiple sites of nucleolar organizing regions. The other species were characterized by having a simple system of NOR. These data contributes to the know ledge of the existing biodiversity in our fish fauna, here highlighted by the inter- and intraspecific chromosomal diversity in the genus Astyanax. PMID:26934153

  1. 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

    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

  2. Surrogate Motherhood and Abortion for Fetal Abnormality.

    Walker, Ruth; van Zyl, Liezl

    2015-10-01

    A diagnosis of fetal abnormality presents parents with a difficult - even tragic - moral dilemma. Where this diagnosis is made in the context of surrogate motherhood there is an added difficulty, namely that it is not obvious who should be involved in making decisions about abortion, for the person who would normally have the right to decide - the pregnant woman - does not intend to raise the child. This raises the question: To what extent, if at all, should the intended parents be involved in decision-making? In commercial surrogacy it is thought that as part of the contractual agreement the intended parents acquire the right to make this decision. By contrast, in altruistic surrogacy the pregnant woman retains the right to make these decisions, but the intended parents are free to decide not to adopt the child. We argue that both these strategies are morally unsound, and that the problems encountered serve to highlight more fundamental defects within the commercial and altruistic models, as well as in the legal and institutional frameworks that support them. We argue in favour of the professional model, which acknowledges the rights and responsibilities of both parties and provides a legal and institutional framework that supports good decision-making. In particular, the professional model acknowledges the surrogate's right to decide whether to undergo an abortion, and the intended parents' obligation to accept legal custody of the child. While not solving all the problems that arise in surrogacy, the model provides a framework that supports good decision-making. PMID:25688455

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

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

    2009-01-01

    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. PMID:19731205

  4. Karyotype study of the South American fruit fly, Anastrepha fraterculus (Wied.) in Argentina

    The most frequent karyotype of Anastrepha fraterculus in Argentina is described here on the basis of mitotic metaphase morphology. It was named ''fraterculus Arg 1''. The diploid number is 2n=10+XX/XY and in males it comprises five homomorphic pairs and one heteomorphic pair, the latter being the sexual pair. Samples from different populations were cytologically analyzed, and ''fraterculus Arg 1'' is present in all of them at a high frequency (about 60%). A typical C band pattern of the X chromosome was found only in the Montecarlo (Misiones province) population. (author)

  5. Karyotype of the gall fly Tomoplagia rudolphi (Lutz & Lima (Diptera, Tephritidae

    Marco Antônio A. Carneiro

    1999-01-01

    Full Text Available The objective of the present study is to describe the karyotype of the fruit fly Tomoplagia rudolphi (Lutz & Lima, 1918. This fly induces the formation of galls on the stems of Vernonia polianthes (Asteraceae. The cytogenetic analysis of cerebral ganglia (larva and pupa and testis (adults of T. rudolphi showed a diploid chromosome number of 2n = 10 + xx (female and 2n = 10 + xy (male. The diploid chromosome number 2n = 12 and the XX/XY sex determination system have been found in most of the species studied. The present investigation constitutes the first cytogenetics study of the genus Tomoplagia Coquilltt, 1910.

  6. Comparative karyotype analysis and chromosome evolution in the genus Aplastodiscus (Cophomantini, Hylinae, Hylidae

    Gruber Simone

    2012-04-01

    Full Text Available Abstract Background The frogs of the Tribe Cophomantini present, in general, 2n = 24 karyotype, but data on Aplastodiscus showed variation in diploid number from 2n = 24 to 2n = 18. Five species were karyotyped, one of them for the first time, using conventional and molecular cytogenetic techniques, with the aim to perform a comprehensive comparative analysis towards the understanding of chromosome evolution in light of the phylogeny. Results Aplastodiscus perviridis showed 2n = 24, A. arildae and A. eugenioi, 2n = 22, A. callipygius, 2n = 20, and A. leucopygius, 2n = 18. In the metaphase I cells of two species only bivalents occurred, whereas in A. arildae, A. callipygius, and A. leucopygius one tetravalent was also observed besides the bivalents. BrdU incorporation produced replication bands especially in the largest chromosomes, and a relatively good banding correspondence was noticed among some of them. Silver impregnation and FISH with an rDNA probe identified a single NOR pair: the 11 in A. perviridis and A. arildae; the 6 in A. eugenioi; and the 9 in A. callipygius and A. leucopygius. C-banding showed a predominantly centromeric distribution of the heterochromatin, and in one of the species distinct molecular composition was revealed by CMA3. The telomeric probe hybridised all chromosome ends and additionally disclosed the presence of telomere-like sequences in centromeric regions of three species. Conclusions Based on the hypothesis of 2n = 24 ancestral karyotype for Aplastodiscus, and considering the karyotype differences and similarities, two evolutionary pathways through fusion events were suggested. One of them corresponded to the reduction of 2n = 24 to 22, and the other, the reduction of 2n = 24 to 20, and subsequently to 18. Regarding the NOR, two conditions were recognised: plesiomorphy, represented by the homeologous small-sized NOR-bearing pairs, and derivation, represented by the NOR in

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

    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)

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

    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.

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

    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.

  10. First karyotype description of Hypostomus iheringii (Regan, 1908): a case of heterochromatic polymorphism

    Josiane Traldi; Marcelo Vicari; Daniel Blanco; Juliana Martinez; Roberto Artoni; Orlando Moreira Filho

    2012-01-01

    In this study, which is the first karyotype analysis of Hypostomus iheringii, nine specimens collected in Córrego da Lapa (tributary of the Passa-Cinco River) showed a diploid number of 80 chromosomes. Silver nitrate staining and fluorescence in situ hybridization (FISH) with an 18S rDNA probe revealed the presence of multiple nucleolus organizer regions (NORs) (chromosome pairs 13, 20, and 34). FISH with a 5S rDNA probe showed that this cistron was only present in chromosome pair 2. W...

  11. G- and C-Banded Karyotype of Cricetulus migratorius Pallas, 1773 (Mammalia: Rodentia) in Central Anatolia

    ARSLAN, Atilla; AKAN, Şükrüye

    2008-01-01

    The present study reports the banding patterns (G- and C-banding) of chromosomes of Cricetulus migratorius from Central Anatolia. Karyotype of C. migratorius comprised (2n) 22 chromosomes. The number of chromosomal arms (FN) was 44 and the number of autosomal arms (FNa) was 40. Subtelocentric X and Y chromosomes were very similar in size, but they differed on G- and C-banding patterns. Most autosomes in this species were C-negative. Pair no. 4 had very small centromeric C-bands, autosome no. ...

  12. Karyotype of the gall fly Tomoplagia rudolphi (Lutz & Lima) (Diptera, Tephritidae)

    Marco Antônio A. Carneiro; Luiz Fernando Gomes; Silvia das Graças Pompolo; Lucio Antonio De Oliveira Campos,

    1999-01-01

    The objective of the present study is to describe the karyotype of the fruit fly Tomoplagia rudolphi (Lutz & Lima, 1918). This fly induces the formation of galls on the stems of Vernonia polianthes (Asteraceae). The cytogenetic analysis of cerebral ganglia (larva and pupa) and testis (adults) of T. rudolphi showed a diploid chromosome number of 2n = 10 + xx (female) and 2n = 10 + xy (male). The diploid chromosome number 2n = 12 and the XX/XY sex determination system have been found in most of...

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

    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

  14. A First Glimpse of Wild Lupin Karyotype Variation As Revealed by Comparative Cytogenetic Mapping.

    Susek, Karolina; Bielski, Wojciech K; Hasterok, Robert; Naganowska, Barbara; Wolko, Bogdan

    2016-01-01

    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 (OWL) 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 relationships between the

  15. 123例老年急性髓系白血病患者单体核型分布特征%The distribution characteristics of monosomal karyotype in 123 elderly patients with acute myeloid leukemia

    刘辉; 裴蕾; 宁尚勇; 李江涛; 冯茹

    2015-01-01

    secondary to myelodysplastic syndrome (MDS-AML),among them 13 cases (55.0%) had MK.In the 95 cases with primary AML,the detection rate of MK was 25.3% (24 cases).The detection rate of MK+ AML was higher in MDS-AML patients than in de novo AML patients (P=0.000).Among the 37 patients with MK+AML,35 cases had complex karyotypes.30 (81.1%) MK+AML patients had two or more distinct autosomal monosomies and 7 (18.9%) MK+ AML patients had one single autosomal monosomy in the presence of structural abnormalities,and the incidence of autosomal monosomies was higher than that of single autosomal monosomy.The presence of--5 (27.0%),-4 (18.9%),-7 (16.3%) and-6 (13.5%) chromosomes was the most common autosomal monosomy among MK+ AML patients.Conclusions The detection rate of MK is relatively high in elderly AML patients.Two or more distinct autosomal monosomies are more common.The detection rate of MK+AML is higher in patients with MDS-AML than in patients with de novo AML.

  16. Infections Acquired in the Garden.

    Cunha, Cheston B; Cunha, Burke A

    2015-10-01

    Gardening is a wonderful pastime, and the garden is a very peaceful place to enjoy one's vacation. However, the garden may be a treacherous place for very young or compromised hosts when one takes into account the infectious potential residing in the soil, as well as the insect vectors on plants and animals. Even normal hosts may acquire a variety of infections from the soil, animals, or animal-related insect bites. The location of the garden, its natural animal and insect inhabitants, and the characteristics of the soil play a part in determining its infectious potential. The most important factor making the garden an infectious and dangerous place is the number and interaction of animals, whether they are pets or wild, that temporarily use the garden for part of their daily activities. The clinician should always ask about garden exposure, which will help in eliminating the diagnostic possibilities for the patient. The diagnostic approach is to use epidemiological principles in concert with clinical clues, which together should suggest a reasonable list of diagnostic possibilities. Organ involvement and specific laboratory tests help further narrow the differential diagnosis and determine the specific tests necessary to make a definitive diagnosis. PMID:26542044

  17. Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotype.

    Erica Ballabio

    Full Text Available Leukaemia is often associated with genetic alterations such as translocations, amplifications and deletions, and recurrent chromosome abnormalities are used as markers of diagnostic and prognostic relevance. However, a proportion of acute myeloid leukaemia (AML cases have an apparently normal karyotype despite comprehensive cytogenetic analysis. Based on conventional cytogenetic analysis of banded chromosomes, we selected a series of 23 paediatric patients with acute myeloid leukaemia and performed whole genome array comparative genome hybridization (aCGH using DNA samples derived from the same patients. Imbalances involving large chromosomal regions or entire chromosomes were detected by aCGH in seven of the patients studied. Results were validated by fluorescence in situ hybridization (FISH to both interphase nuclei and metaphase chromosomes using appropriate bacterial artificial chromosome (BAC probes. The majority of these copy number alterations (CNAs were confirmed by FISH and found to localize to the interphase rather than metaphase nuclei. Furthermore, the proliferative states of the cells analyzed by FISH were tested by immunofluorescence using an antibody against the proliferation marker pKi67. Interestingly, these experiments showed that, in the vast majority of cases, the changes appeared to be confined to interphase nuclei in a non-proliferative status.

  18. Echocardiographic abnormalities in hypertensive patients

    A descriptive cross-sectional study was carried out in 120 hypertensive patients with a course of 5 or more years, who went to the emergency room of 'Saturnino Lora' Provincial Teaching Hospital from November 2010 to November 2011 in order to determine the presence or absence of echocardiographic abnormalities typical of hypertension. Of these, 78,3 % was affected, most of whom reported not to continue with regular previous medical treatment, and 21,7 % had not these abnormalities. Age group of 50-60 years, males and blacks prevailed in the case material. The most significant echocardiographic findings were left ventricular hypertrophy and heart failure with ejection fraction of left ventricle preserved

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

    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.

  20. Is Dark Energy Abnormally Weighting?

    Fuzfa, A.; Alimi, J. -M.

    2006-01-01

    We present a new interpretation of dark energy in terms of an \\textit{Abnormally Weighting Energy} (AWE). This means that dark energy does not couple to gravitation in the same way as ordinary matter, yielding a violation of the weak and strong equivalence principles on cosmological scales. The resulting cosmological mechanism accounts for the Hubble diagram of type Ia supernovae in terms of both cosmic acceleration and variation of the gravitational constant while still accounting for the pr...

  1. Computed tomography of thymic abnormalities

    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.

  2. Mastoid abnormalities in Down syndrome

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development. (orig.)

  3. Computed tomography abnormalities in hanging

    The CT pattern of bilateral and symmetrical round low density areas in the globi pallidi has been observed in a young man who attempted suicide by hanging. These CT abnormalities are similar to those described in other conditions such as carbon monoxide, hydrogen sulfide, cyanide and methanol poisoning, hypoglycaemia, drowning and acute global central nervous system hypoperfusion.The findings appear to be correlated with acute cerebral hypoxia. (orig.)

  4. Cardiac abnormalities after subarachnoid hemorrhage

    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 Syndrome) that has been described after acute stress. It is a reversible cardiac dysfunction with distinct imaging features(the echocardiographic or left ventricular angiographic image resembles a Tak...

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

    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

  6. Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations.

    M. Ferraro; de Capoa, A.; Mostacci, C; Pelliccia, F; Zulli, P; Baldini, M A; Di Nisio, Q

    1980-01-01

    Chromosome analysis by Q, R, and C banding was performed in a case diagnosed clinically as gonadal dysgenesis and the karyotype was shown to be 46,X,Xt(qter leads to p221::p223 leads to qter). Localisation of the breakpoints in the fused X chromosomes and replication studies have led to a hypothesis on the origin of the translocation. A comparison of clinical and cytogenetical findings in this and other published cases has also been made in an attempt to detect some phenotype/karyotype correl...

  7. The karyotype of Festucopsis serpentini (Poaceae Triticeae) from Albania studied by banding techniques and in situ hybridization

    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......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...... between plants was only possible for the SAT-chromosomes. A comparison between the C-banded karyotypes of F. serpentini and Peridictyon sanctum supports their position in two genera....

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

    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.

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

    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.

  10. CT and MR imaging of odontoid abnormalities: A pictorial review.

    Jain, Nishchint; Verma, Ritu; Garga, Umesh C; Baruah, Barinder P; Jain, Sachin K; Bhaskar, Surya N

    2016-01-01

    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. PMID:27081234

  11. AN ANN BASED BRAIN ABNORMALITY DETECTION USING MR IMAGES

    K.V. Kulhalli

    2013-02-01

    Full Text Available The Main purpose of this paper is to design, implement and evaluate a strong automatic diagnostic system that increases the accuracy of tumor diagnosis in brain using MR images. This presented work classifies the brain tissues as normal or abnormal automatically, using computer vision. This saves lot of radiologist time to carryout monotonous repeated job. The acquired MR images are processed using image preprocessing techniques. The preprocessed images are then segmented, and the various features are extracted. The extracted features are fed to the artificial neural network as input that trains the network using error back propagation algorithm for correct decision making.

  12. CT and MR imaging of odontoid abnormalities: A pictorial review

    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. Karyotypes of six populations of Lycoris radiata and discovery of the tetraploid%六个石蒜居群的核型及四倍体石蒜的发现

    周守标; 余本祺; 罗琦; 胡金蓉; 毕德

    2007-01-01

    Chromosomes and karyotypes are important aspects of plant phylogeny and evolution. The chromosome numbers and karyotypes of Lycoris radiata display great variability among and within different populations. By studying different populations of L. radiata we acquired some basic data on karyotype evolution and evolutionary mechanisms in L. radiata and the genus Lycoris. Six populations of L. radiata from Anhui and Zhejiang provinces in China were investigated cytologically. The chromosome numbers and karyotype formulae are as follows: Huoshan populations, 2n=44=28st+8t+8T, 2n=22=6st+12t+4T; Huangshan populations, 2n=22=22t, 2n=22=18st+4t, 2n=21=12st+7t+2T; Chuzhou population, 2n=33=33t; Ma'anshan populations, 2n=33=18st+15T, 2n=25=1m+20st+2t+2T; Xuancheng populations, 2n=22=20st+2T, 2n=21=1m+20st; and Hangzhou populations 2n=22=12st+4t+6T, 2n=21=18st+3t. The chromosome numbers and karyotypes of some populations are reported here for the first time and the wild tetraploid population of L. radiata was found for the first time. In addition, karyotype evolution among populations and the origin of polyploids are discussed.%染色体与核型的变化是植物系统发育和进化的一个重要方面.石蒜属Lycoris植物特别是石蒜L.radiata在染色体数目和核型上存在较大的变异.通过对不同居群的石蒜核型研究,可以为石蒜和石蒜属植物的核型演化及演化机制提供一些重要的基础资料.本文对分布于中国安徽省和浙江省的6个石蒜居群进行了细胞学研究.结果表明,6个石蒜居群的染色体数目和核型分别为: 霍山居群2n=44=28st+8t+8T,2n=22=6st+12t+4T; 黄山居群2n=22=22t,2n=22=18st+4t,2n=21=12st+7t+2T; 滁州居群2n=33=33t; 马鞍山居群2n=33=18st+15T,2n=25=1m+20st+2t+2T; 宣城居群2n=22=20st+2T,2n=21=1m+20st; 杭州居群2n=22=12st+4t+6T,2n=21=18st+3t.其中,部分居群的核型类型为首次报道; 并首次发现了四倍体的石蒜居群.此外,对石蒜的核型进化和多

  14. The Abnormal Choroidal Vessels in Aged Patients

    Shizhou Huang; Feng Wen; Dezheng Wu; Guangwei Luo; Caijiao Liu

    2002-01-01

    Background: To show the abnormal choroidal vessels in aged patients with indocyanine-green angiography (ICGA).Methods: ICGA was performed in 350 patients with TOPCON TRC-50IA fundus camera.The images were recorded and retrospectively reviewed.Results: Five aged patients out of 350 cases were found to have abnormal choroidalvessels. The incidence was 1.43%. The abnormal choroidal vessels showed round- shapet,focal enlargement, abnormal shape and entrance, satellite appearance, and vascularloops. These might be due to congenital abnormality of choroid.Conclusion: ICGA could be used to observe the abnormal choroidal vessels.

  15. Surface Sampler Arm Acquiring Sample

    1976-01-01

    Operation of the surface sampler in obtaining Martian soil for Viking 2's molecular analysis experiment last Saturday (September 25) was closely monitored by one of the Lander cameras because of the precision required in trenching the small area--8 by 9 inches-surrounded by rocks. Dubbed 'Bonneville Salt Flats,' the exposure of thin crust appeared unique in contrast with surrounding materials and became a prime target for organic analysis in spite of potential hazards. Large rock in foreground is 8 inches high. At left, the sampler scoop has touched the surface, missing the rock at upper left by a comfortable 6 inches, and the backhoe has penetrated the surface about one-half inch. The scoop was then pulled back to sample the desired point and (second photo) the backhoe furrowed the surface pulling a piece of thin crust toward the spacecraft. The initial touchdown and retraction sequence was used to avoid a collision between a rock in the shadow of the arm and a plate joining the arm and scoop. The rock was cleared by 2 to 3 inches. The third picture was taken 8 minutes after the scoop touched the surface and shows that the collector head has acquired a quantity of soil. With surface sampler withdrawn (right), the foot-long trench is seen between the rocks. The trench is three inches wide and about 1 1/2 to 2 inches deep. The scoop reached to within 3 inches of the rock at far end of trench. Penetration appears to have left a cavernous opening roofed by the crust and only about one inch of undisturbed crust separates the deformed surface and the rock.

  16. Comparative chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human and dromedary camel probes

    2014-01-01

    Background Pronghorn (Antilocapridae, 2n = 58) and saola (Bovidae, 2n = 50) are members of Pecora, a highly diversified group of even-toed hoofed mammals. Karyotypes of these species were not involved in chromosome painting studies despite their intriguing phylogenetic positions in Pecora. Results To trace the chromosome evolution during very fast radiation of main families from the common Pecoran ancestor, high-resolution comparative chromosome maps of pronghorn and saola with human (HSA) and dromedary camel (CDR) painting probes were established. The human and dromedary camel painting probes revealed 50 and 64 conserved segments respectively in the pronghorn genome, while 51 and 63 conserved segments respectively in the saola genome. Integrative analysis with published comparative maps showed that inversions in chromosomes homologous to CDR19/35/19 (HSA 10/20/10), CDR12/34/12 (HSA12/22/12/22), CDR10/33/10 (HSA 11) are present in representatives of all five living Pecoran families. The pronghorn karyotype could have formed from a putative 2n = 58 Pecoran ancestral karyotype by one fission and one fusion and that the saola karyotype differs from the presumed 2n = 60 bovid ancestral karyotype (2n = 60) by five fusions. Conclusion The establishment of high-resolution comparative maps for pronghorn and saola has shed some new insights into the putative ancestral karyotype, chromosomal evolution and phylogenic relationships in Pecora. No cytogenetic signature rearrangements were found that could unite the Antilocapridae with Giraffidae or with any other Pecoran families. Our data on the saola support a separate position of Pseudorigyna subtribe rather than its affinity to either Bovina or Bubalina, but the saola phylogenetic position within Bovidae remains unresolved. PMID:24923361

  17. Karyotype analysis of seven species of the tribe Lophiohylini (Hylinae, Hylidae, Anura, with conventional and molecular cytogenetic techniques

    Simone Gruber

    2012-12-01

    Full Text Available Few species of the tribe Lophiohylini have been karyotyped so far, and earlier analyses were performed mainly with standard staining. Based on the analysis of seven species with use of routine banding and molecular cytogenetic techniques, the karyotypes were compared and the cytogenetic data were evaluated in the light of the current phylogenies. A karyotype with 2n = 24 and NOR in the chromosome 10 detected by Ag-impregnation and FISH with an rDNA probe was shared by Aparasphenodon bokermanni Miranda-Ribeiro, 1920, Itapotihyla langsdorffii (Duméril and Bibron, 1841, Trachycephalus sp., T. mesophaeus (Hensel, 1867, and T. typhonius (Linnaeus, 1758. Phyllodytes edelmoi Peixoto, Caramaschi et Freire, 2003 and P. luteolus (Wied-Neuwied, 1824 had reduced the diploid number from 2n = 24 to 2n = 22 with one of the small-sized pairs clearly missing, and NOR in the large chromosome 2, but the karyotypes were distinct regarding the morphology of chromosome pairs 4 and 6. Based on the cytogenetic and phylogenetic data, it was presumed that the chromosome evolution occurred from an ancestral type with 2n = 24, in which a small chromosome had been translocated to one or more unidentified chromosomes. Whichever hypothesis is more probable, other rearrangements should have occurred later, to explain the karyotype differences between the two species of Phyllodytes Wagler, 1830. The majority of the species presented a small amount of centromeric C-banded heterochromatin and these regions were GC-rich. The FISH technique using a telomeric probe identified the chromosome ends and possibly (TTAGGGn-like sequences in the repetitive DNA out of the telomeres in I. langsdorffii and P. edelmoi. The data herein obtained represent an important contribution for characterizing the karyotype variability within the tribe Lophiohylini scarcely analysed so far.

  18. Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development

    Dumić, Miroslav; Lin-Su, Karen; Leibel, Natasha I.; Ciglar, Srećko; Vinci, Giovanna; Lasan, Ružica; Nimkarn, Saroj; Wilson, Jean D.; McElreavey, Ken; New, Maria I.

    2007-01-01

    Context: We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X) and a predominantly 46,XY karyotype in the ovary (93% 46,XY and 6% 45,X).

  19. Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.

    Beverstock, G C; Macfarlane, J D; Veenema, H; Hoekman, H; Goodfellow, P J

    1989-01-01

    An infertile male patient with a 45,X peripheral blood karyotype and a 45,X/46,X,del(Y)(pter----q11.1:) mosaic skin fibroblast karyotype is described. Steroid sulphatase (STS) activity was normal. Recombinant DNA studies using Y chromosome specific probes suggest that almost the entire long arm of the Y chromosome is deleted.

  20. 17 CFR 210.8-06 - Real estate operations acquired or to be acquired.

    2010-04-01

    ... 17 Commodity and Securities Exchanges 2 2010-04-01 2010-04-01 false Real estate operations acquired or to be acquired. 210.8-06 Section 210.8-06 Commodity and Securities Exchanges SECURITIES AND... Statements of Smaller Reporting Companies § 210.8-06 Real estate operations acquired or to be acquired....

  1. Karyotype evolution in Curimatidae (Teleostei, Characiformes) from the Amazon region. II. Centric fissions in the genus Potamorhina.

    Feldberg, E; Porto, J I; Nakayama, C M; Bertollo, L A

    1993-04-01

    Using cytogenetic analysis following Giemsa staining, nucleolar organizer region (NOR) staining, and C-banding, three distinct karyotypes in three species of curimatids belonging to the fish genus Potamorhina were identified: 2n = 54/44 M + 10 SM (P. pristigaster), 2n = 56/52 M + 2 SM + 2 ST (P. latior), and 2n = 102/2 M + 2 SM + 98 A (P. altamazonica). A 2n = 54 was considered to be the ancestral diploid number and the different karyotypes were probably the result of centric fissions. Both the NOR pattern and constitutive heterochromatin pattern are species specific. PMID:18469994

  2. Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes

    Aksglaede, L.; Jensen, Rikke Bodin Beck; Carlsen, E.;

    2008-01-01

    testicular failure due to supernumerary X chromosomes. DESIGN: Cross-sectional study. METHODS: In this study, 7 untreated patients with primary gonadal insufficiency due to SRY-positive 46,XX (n=4) and 46,XXY karyotypes (n=3) aged 18.8 years and 25 age-matched healthy controls participated. Reproductive...... 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. Karyotyping of Brassica napus L. Based on C0t-1 DNA Banding by Fluorescence In Situ Hybridization

    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.

  4. MDM4 Overexpressed in Acute Myeloid Leukemia Patients with Complex Karyotype and Wild-Type TP53

    Li Li; Yanhong Tan; Xiuhua Chen; Zhifang Xu; Siyao Yang; Fanggang Ren; Haixiu Guo; Xiaojuan Wang; Yi Chen; Guoxia Li; Hongwei Wang

    2014-01-01

    Acute myeloid leukemia patients with complex karyotype (CK-AML) account for approximately 10-15% of adult AML cases, and are often associated with a poor prognosis. Except for about 70% of CK-AML patients with biallelic inactivation of TP53, the leukemogenic mechanism in the nearly 30% of CK-AML patients with wild-type TP53 has remained elusive. In this study, 15 cases with complex karyotype and wild-type TP53 were screened out of 140 de novo AML patients and the expression levels of MDM4, a ...

  5. C-Banded Karyotype and Nucleolar Organizer Regions (NORs) of Wild Boar, Sus scrofa (Artiodactyla: Suidae) from Anatolia

    ARSLAN, Atilla; İrfan ALBAYRAK

    2009-01-01

    The present study reports the karyotype, C-banding, and nucleolar organizer regions (NORs) of 6 Sus scrofa (Linnaeus, 1758) males from Anatolia. The karyotype of S. scrofa comprised (2n) 38 chromosomes, the number of chromosomal arms (FN) was 64, and the number of autosomal arms (FNa) was 60. C-positive regions appeared to be restricted to the centromeric regions of autosomes 1, and 13-18, and the entire long arm of the Y chromosome. Some autosomes had very slight C-bands. The X chromosome ap...

  6. Karyotype and genome size of Iberochondrostoma almacai (Teleostei, Cyprinidae) and comparison with the sister-species I. lusitanicum

    Rita Monteiro; Cláudia Carvalho; Maria João Collares-Pereira

    2009-01-01

    This study aimed to define the karyotype of the recently described Iberian endemic Iberochondrostoma almacai, to revisit the previously documented chromosome polymorphisms of its sister species I. lusitanicum using C-, Ag-/CMA3 and RE-banding, and to compare the two species genome sizes. A 2n = 50 karyotype (with the exception of a triploid I. lusitanicum specimen) and a corresponding haploid chromosome formula of 7M:15SM:3A (FN = 94) were found. Multiple NORs were observed in both species (i...

  7. Karyotype rearrangements and telomere analysis in Myzus persicae (Hemiptera, Aphididae strains collected on Lavandula sp. plants

    Mauro Mandrioli

    2014-10-01

    Full Text Available Karyotype analysis of nine strains of the peach-potato aphid Myzus persicae (Sulzer, 1776, collected on Lavandula sp. plants, evidenced showed that five of them had a standard 2n = 12 karyotype, one possessed a fragmentation of the X chromosome occurring at the telomere opposite to the NOR-bearing one and three strains had a chromosome number 2n = 11 due to a non-reciprocal translocation of an autosome A3 onto an A1 chromosome. Interestingly, the terminal portion of the autosome A1 involved in the translocation was the same in all the three strains, as evidenced by FISH with the histone cluster as a probe. The study of telomeres in the M. persicae strain with the X fission evidenced that telomerase synthesised de novo telomeres at the breakpoints resulting in the stabilization of the chromosomal fragments. Lastly, despite the presence of a conserved telomerase, aphid genome is devoid of genes coding for shelterin, a complex of proteins involved in telomere functioning frequently reported as conserved in eukaryotes. The absence of this complex, also confirmed in the genome of other arthropods, suggests that the shift in the sequence of the telomeric repeats has been accompanied by other changes in the telomere components in arthropods in respect to other metazoans.

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

    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.

  9. Chromosomal rearrangements and karyotype evolution in carnivores revealed by chromosome painting.

    Nie, W; Wang, J; Su, W; Wang, D; Tanomtong, A; Perelman, P L; Graphodatsky, A S; Yang, F

    2012-01-01

    Chromosomal evolution in carnivores has been revisited extensively using cross-species chromosome painting. Painting probes derived from flow-sorted chromosomes of the domestic dog, which has one of the most rearranged karyotypes in mammals and the highest dipoid number (2n=78) in carnivores, are a powerful tool in detecting both evolutionary intra- and inter-chromosomal rearrangements. However, only a few comparative maps have been established between dog and other non-Canidae species. Here, we extended cross-species painting with dog probes to seven more species representing six carnivore families: Eurasian lynx (Lynx lynx), the stone marten (Martes foina), the small Indian civet (Viverricula indica), the Asian palm civet (Paradoxurus hermaphrodites), Javan mongoose (Hepestes javanicas), the raccoon (Procyon lotor) and the giant panda (Ailuropoda melanoleuca). The numbers and positions of intra-chromosomal rearrangements were found to differ among these carnivore species. A comparative map between human and stone marten, and a map among the Yangtze finless porpoise (Neophocaena phocaenoides asiaeorientalis), stone marten and human were also established to facilitate outgroup comparison and to integrate comparative maps between stone marten and other carnivores with such maps between human and other species. These comparative maps give further insight into genome evolution and karyotype phylogenetic relationships among carnivores, and will facilitate the transfer of gene mapping data from human, domestic dog and cat to other species. PMID:22086079

  10. Chromosomal rearrangements and karyotype evolution in carnivores revealed by chromosome painting

    Nie, W; Wang, J; Su, W; Wang, D; Tanomtong, A; Perelman, P L; Graphodatsky, A S; Yang, F

    2012-01-01

    Chromosomal evolution in carnivores has been revisited extensively using cross-species chromosome painting. Painting probes derived from flow-sorted chromosomes of the domestic dog, which has one of the most rearranged karyotypes in mammals and the highest dipoid number (2n=78) in carnivores, are a powerful tool in detecting both evolutionary intra- and inter-chromosomal rearrangements. However, only a few comparative maps have been established between dog and other non-Canidae species. Here, we extended cross-species painting with dog probes to seven more species representing six carnivore families: Eurasian lynx (Lynx lynx), the stone marten (Martes foina), the small Indian civet (Viverricula indica), the Asian palm civet (Paradoxurus hermaphrodites), Javan mongoose (Hepestes javanicas), the raccoon (Procyon lotor) and the giant panda (Ailuropoda melanoleuca). The numbers and positions of intra-chromosomal rearrangements were found to differ among these carnivore species. A comparative map between human and stone marten, and a map among the Yangtze finless porpoise (Neophocaena phocaenoides asiaeorientalis), stone marten and human were also established to facilitate outgroup comparison and to integrate comparative maps between stone marten and other carnivores with such maps between human and other species. These comparative maps give further insight into genome evolution and karyotype phylogenetic relationships among carnivores, and will facilitate the transfer of gene mapping data from human, domestic dog and cat to other species. PMID:22086079

  11. Morphological structure of propagules and electrophoretic karyotype analysis of false smut Villosiclava virens in rice.

    Fu, Rongtao; Ding, Lei; Zhu, Jun; Li, Ping; Zheng, Ai-Ping

    2012-04-01

    The target pathogen Villosiclava virens (teleomorph: claviceps oryzae-sativae) was isolated from the infected rice, where it caused false smut. In our study, the forming processes of the chlamydospores, chlamydospore balls, conidiospores, and secondary conidiospores during the asexual reproduction were observed more precisely and in greater detail than previous descriptions. The microstructure of the infected rice kernel showed that the outer dense chlamydospores piled around the false smut balls grown on XBZ medium; moreover the sclerotia consisting of dense mycelium were found. The different morphology was observed across the different growing conditions. In addition, we observed the nuclear numbers of both the conidiospores and hyphae using 4',6-diamidino-2-phenylindole (DAPI) staining. Because the fungus has small chromosomes and the numbers were not previously known, we analyzed the electrophoretic karyotype using a pulsed field gel electrophoresis (PFGE) technique. The results showed that V. virens has at least 10 chromosomes ranging in size from 0.6 kb to 6 Mb. The V. virens genome size is estimated to be 23 Mb. Here, we report the morphological characteristics of the fungus and the process of asexual spores forming asexual propagules, along with the first analyze the molecular karyotype of V. virens. These results supply a foundation for further study of the pathogenicity and biology of this devastating pathogen. PMID:22538655

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

    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.

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

    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. Chromosome numbers and karyotype evolution in holoparasitic Orobanche (Orobanchaceae) and related genera

    Schneeweiss, G.M.; Palomeque, T.; Colwell, A.E.; Weiss-Schneeweiss, H.

    2004-01-01

    Chromosome numbers and karyotypes of species of Orobanche, Cistanche, and Diphelypaea (Orobanchaceae) were investigated, and 108 chromosome counts of 53 taxa, 19 counted for the first time, are presented with a thorough compilation of previously published data. Additionally, karyotypes of representatives of these genera, including Orobanche sects. Orobanche and Trionychon, are reported. Cistanche (x = 20) has large meta- to submetacentric chromosomes, while those of Diphelypaea (x = 19) are medium-sized submeta-to acrocentrics. Within three analyzed sections of Orobanche, sects. Myzorrhiza (x = 24) and Trionychon (x = 12) possess medium-sized submeta- to acrocentrics, while sect. Orobanche (x = 19) has small, mostly meta- to submetacentric, chromosomes. Polyploidy is unevenly distributed in Orobanche and restricted to a few lineages, e.g., O. sect. Myzorrhiza or Orobanche gracilis and its relatives (sect. Orobanche). The distribution of basic chromosome numbers supports the groups found by molecular phylogenetic analyses: Cistanche has x = 20, the Orobanche-group (Orobanche sect. Orobanche, Diphelypaea) has x = 19, and the Phelipanche-group (Orobanche sects. Gymnocaulis, Myzorrhiza, Trionychon) has x = 12, 24. A model of chromosome number evolution in Orobanche and related genera is presented: from two ancestral base numbers, xh = 5 and xh = 6, independent polyploidizations led to x = 20 (Cistanche) and (after dysploidization) x = 19 (Orobanche-group) and to x = 12 and x = 24 (Phelipanche-group), respectively.

  15. Differential Protein Expression in Congenital and Acquired Cholesteatomas.

    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

  16. Making chromosome abnormalities treatable conditions.

    Cody, Jannine DeMars; Hale, Daniel Esten

    2015-09-01

    Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p-, 5p-, 11q-, 18p-, and 18q-). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now on the road to making chromosome abnormalities treatable conditions. PMID:26351122

  17. MR imaging of abnormal synovial processes

    MR imaging can directly image abnormal synovium. The authors reviewed over 50 cases with abnormal synovial processes. The abnormalities include Baker cysts, semimembranous bursitis, chronic shoulder bursitis, peroneal tendon ganglion cyst, periarticular abscesses, thickened synovium from rheumatoid and septic arthritis, and synovial hypertrophy secondary to Legg-Calve-Perthes disease. MR imaging has proved invaluable in identifying abnormal synovium, defining the extent and, to a limited degree, characterizing its makeup

  18. CT and MR imaging evaluation of the inherited and prenatally acquired migrational disorders of the brain

    The migrational disorders are a rare group of congenital malformations of the brain seen in children. They are primarily cortical and gray matter abnormalities. Forty patients, divided into two groups, were studied. In one group were patients with the classic migrational lesions of lissencephaly, pachygyria, schizencephaly, heterotopia, and polymicrogyria in which the underlying cause is genetic, chromosomal, or unknown. In the second group were patients with lesions caused by a prenatally acquired infection (toxoplasmosis or cytomegalic virus) or a metabolic abnormality. The CT and MR imaging findings in these two groups are discussed

  19. Ventilation abnormalities in pulmonary embolus

    The ventilation scans of 11 patients with angiographically-proven PE were reviewed. All patients had one or more lung perfusion defects. The chest roentgenograph was abnormal in 11 of the patients. The ventilation studies were performed in the posterior positron prior to the perfusion lung scan using Xe-133. The ventilation study consists of washin, equilibrium, and washout images. In four patients with normal washin there was retention of the Xe-133 (delayed washout) at the site of the perfusion defect. All had roentgenographic abnormalities. Another pattern was observed at the sites of some perfusion defects in six patients. In these, there was decreased washin at the perfusion defect location. Two patients had both decreased washin and delayed washout. In only one case was the typical ventilation pattern of normal washin and normal washout. The method of retention is unclear, but may be due to decreased clearance of Xe-133 secondary to decreased blood flow in the area or deposition of some fat soluble component left at the site of embolization. The etiology of the reduced washin is unclear, but may be due to reduced surfactant production. This study suggests that more attention must be paid to the ventilation study, where there may be additional clues to the diagnosis of pulmonary embolus

  20. Abnormal returns and the regulation of nonprofit hospital sales and conversions.

    Leone, Andrew J; Van Horn, R Lawrence; Wedig, Gerard J

    2005-01-01

    During the 1990s, concerns that nonprofit (NP) hospitals were being sold at below-market prices to investor-owned (IO) chains helped to prompt the widespread adoption of state laws regulating the sale and conversion of nonprofits. In this paper, we provide a simple test of under-pricing using the IO acquirer's abnormal stock market returns at the time of the acquisition. Prior to regulation, we find that IO chains did not earn abnormal returns from their acquisitions of NPs and earned greater returns from purchasing other IO and privately owned hospitals. In states that subsequently adopted regulations, acquisition activity slowed significantly and acquirer returns became negative. Efficient markets theory suggests that, absent regulation, expected merger synergies were already being transferred to the NP target and that regulation may have reduced expected synergies or increased the costs of acquiring NP hospitals. PMID:15617791

  1. 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

    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

  2. Approach to Investigating Congenital Skeletal Abnormalities in Livestock.

    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. PMID:25910781

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

    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 ...

  4. Abnormal Event Detection Using Local Sparse Representation

    Ren, Huamin; Moeslund, Thomas B.

    2014-01-01

    We propose to detect abnormal events via a sparse subspace clustering algorithm. Unlike most existing approaches, which search for optimized normal bases and detect abnormality based on least square error or reconstruction error from the learned normal patterns, we propose an abnormality...... 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 is...

  5. 波斯菊核型分析%Karyotype analysis of Cosmos bipinnatus

    张凡; 张芹; 龙双红

    2012-01-01

    采用常规压片制片法,对波斯菊(Cosmos bipinnatus)进行了染色体数目观察及核型分析,旨在为波斯菊种质鉴定、起源分析、物种演替、良种培育提供必要的细胞学依据。试验结果表明,波斯菊染色体数目为2n=24,核型公式2n=2x=24=18m(1sat)+6sin(1sat)。波斯菊染色体相对长度的平均值为6.20%-9.06%.最长和最短的染色体比值为1.47,臂比大于2:1的染色体占染色体总数的16.7%,属于“2A”型;不对称系数为43.25%,对称程度较高,为较对称类型。%In order to provide necessary cytology information on germplasm identification, origin analysis,species succession and breeding, the chromosome number and karyotype of Cosmos bipinnatus were stud ied. The results showed that the chromosome number of C. bipinnatus was 2n=24, and its karyotype for- mula was2n=2x=24=18m (lsat)+6sm (lsat). The average relative length of chromosomes was 6.20% to 9.06%, Ratio of the longest to the shortest chromosome was 1. 47%,16. 7% of chromosomes showedlong arm/short arm〉2 : 1. The karyotype of C. bipinnatus belongs to "2A" type. As the asymmetry coefficient was 43.25%, chromosome of C. bipinnatus should be a more symmetric type.

  6. C-heterochromatin variation and NOR distribution in the Karyotype of water vole, Arvicola terrestris (Mammalia, Rodentia)

    Arslan, A.; Yorulmaz, T.; Toyran, K.; Gözütok, S.; Zima, Jan

    2011-01-01

    Roč. 64, č. 2 (2011), s. 215-222. ISSN 0008-7114 R&D Projects: GA MŠk LC06073 Institutional research plan: CEZ:AV0Z60930519 Keywords : Central Europe * chromosome banding * karyotype differentiation * Turkey Subject RIV: EG - Zoology Impact factor: 0.533, year: 2011

  7. Individualized choice in prenatal diagnosis : the impact of karyotyping and standalone rapid aneuploidy detection on quality of life

    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

  8. GISH analysis of European spined loaches (Cobitis strumicae) in tri-hybrid genomes and re-description of its karyotype

    Opoldusová, Zuzana; Janko, Karel; Symonová, Radka; Rábová, Marie; Pelikánová, Šárka; Choleva, Lukáš; Ráb, Petr

    Lisboa: Centro de Biologia Ambiental da Universidade de Lisboa, 2010. s. 18-18. [The International Meeting on the Genetics of Polyploids. 11.11-12.11.2010, Lisboa] Institutional research plan: CEZ:AV0Z50450515 Keywords : GISH * Cobitis strumicae * karyotype Subject RIV: EB - Genetics ; Molecular Biology

  9. Study on Karyotype of Impatiens blepharosepala%睫毛萼凤仙花核型研究

    张朝君; 郑思乡

    2011-01-01

    The karyotype of Impatiens blepharosepala was observed and analyzed, taking young root tip of Impatiens blepharosepala as material, to know its chromosome number and karyotype and provide cytology basis for phylogenetic systematics. The results showed that Impatiens blepharosepala has 14 chromosomes and the karyotype formula is 2n=2x=14=14m, it belongs to lA type in Stebbins taxonomy, a more original and symmetrical karyotype.%为弄清睫毛萼凤仙花的染色体数目及核型情况,为其系统分类提供细胞学依据,特选取睫毛萼凤仙花的幼嫩根尖作材料,处理制片观察分析其核型.结果表明:睫毛萼凤仙花具14条染色体,核型公式为2n=2x=14=14 m,属Stebbins分类中的1A型,较为原始的对称核型.

  10. The karyotype and 5S rRNA genes from Spanish individuals of the bat species Rhinolophus hipposideros (Rhinolophidae; Chiroptera).

    Puerma, Eva; Acosta, Manuel J; Barragán, Maria José L; Martínez, Sergio; Marchal, Juan Alberto; Bullejos, Mónica; Sánchez, Antonio

    2008-11-01

    The karyotype of individuals of the species Rhinolophus hipposideros from Spain present a chromosome number of 2n = 54 (NFa = 62). The described karyotype for these specimens is very similar to another previously described in individual from Bulgaria. However, the presence of one additional pair of autosomal acrocentric chromosomes in the Bulgarian karyotype and the differences in X chromosome morphology indicated that we have described a new karyotype variant in this species. In addition, we have analyzed several clones of 1.4 and 1 kb of a PstI repeated DNA sequence from the genome of R. hipposideros. The repeated sequence included a region with high identity with the 5S rDNA genes and flanking regions, with no homology with GenBank sequences. Search for polymerase III regulatory elements demonstrated the presence of type I promoter elements (A-box, Intermediate Element and C-box) in the 5S rDNA region. In addition, upstream regulatory elements, as a D-box and Sp1 binding sequences, were present in flanking regions. All data indicated that the cloned repeated sequences are the functional rDNA genes from this species. Finally, FISH demonstrated the presence of rDNA in nine chromosome pairs, which is surprising as most mammals have only one carrier chromosome pair. PMID:18066670

  11. Karyotype evolution in Rhinolophus bats (Rhinolophidae, Chiroptera) illuminated by cross-species chromosome painting and G-banding comparison.

    Mao, Xiuguang; Nie, Wenhui; Wang, Jinhuan; Su, Weiting; Ao, Lei; Feng, Qing; Wang, Yingxiang; Volleth, Marianne; Yang, Fengtang

    2007-01-01

    Rhinolophus (Rhinolophidae) is the second most speciose genus in Chiroptera and has extensively diversified diploid chromosome numbers (from 2n = 28 to 62). In spite of many attempts to explore the karyotypic evolution of this genus, most studies have been based on conventional Giemsa staining rather than G-banding. Here we have made a whole set of chromosome-specific painting probes from flow-sorted chromosomes of Aselliscus stoliczkanus (Hipposideridae). These probes have been utilized to establish the first genome-wide homology maps among six Rhinolophus species with four different diploid chromosome numbers (2n = 36, 44, 58, and 62) and three species from other families: Rousettus leschenaulti (2n = 36, Pteropodidae), Hipposideros larvatus (2n = 32, Hipposideridae), and Myotis altarium (2n = 44, Vespertilionidae) by fluorescence in situ hybridization. To facilitate integration with published maps, human paints were also hybridized to A. stoliczkanus chromosomes. Our painting results substantiate the wide occurrence of whole-chromosome arm conservation in Rhinolophus bats and suggest that Robertsonian translocations of different combinations account for their karyotype differences. Parsimony analysis using chromosomal characters has provided some new insights into the Rhinolophus ancestral karyotype and phylogenetic relationships among these Rhinolophus species so far studied. In addition to Robertsonian translocations, our results suggest that whole-arm (reciprocal) translocations involving multiple non-homologous chromosomes as well could have been involved in the karyotypic evolution within Rhinolophus, in particular those bats with low and medium diploid numbers. PMID:17899409

  12. Nodes of ranvier and paranodes in chronic acquired neuropathies.

    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

  13. Karyotype characterization and nucleolar organizer regions of marsupial species (Didelphidae from areas of Cerrado and Atlantic Forest in Brazil

    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

  14. Karyotype of Four Species in Genus Dioscorea%4种薯蓣属植物的核型分析

    黄贤兰; 郭华春

    2012-01-01

    The chromosome number and karyotype of four species in genus Dioscorea were studied. The results showed that the chromosome number of D. Parviflora C. T. Ting is 20 and its karyotypic formula is 2n = 20 = 8m + 12sm; the chromosome number of D. Zingiberensis C. H Wright ( wild) is 20 and its karyotypic formula is 2n = 20 = 14m + 6sm; the chromosome number of D. Zingiberensis C. H Wright (the cultivated lines A -02 -6) is 40 and its karyotypic formula is 2n =40 =20m + 18sm + 2st; the chromosome number of D. Bulbifera L. Is 80 and its karyotypic formula is 2n = 80 = 34m + 46sm; the chromosome number of D. Opposite Thunb is 144 and its karyotypic formula is 2n = 144 = 57m + 84sm + 3st. The results indicated that chromosome number and ploidy were complicated in genus Dioscorea which had many polyploid. There were certain differences among the karyotypes of these four species in genus Dioscorea.%采用染色体压片技术对薯蓣属(Dioscorea)4种植物进行核型研究.结果显示小花盾叶薯蓣(D.parviflora C.T.Ting)的染色体数目为2n =2x =20,核型公式K(2n)=20=8m+12sm;盾叶薯蓣(野生种)(D.zingiberensis C.H Wright)的染色体数目为2n =2x =20,核型公式K(2n)=20=14m+6sm;盾叶薯蓣(D.zingiberensisC.H Wright)栽培株系A-02-6的染色体数目为2n =4x =40,核型公式K(2n)=40=20m+ 18sm +2st;黄独(D.bulbifera L.)的染色体数目为2n=8x=80,核型公式K(2n)=80=34m +46sm;山药(薯蓣D.opposita Thunb)的染色体数目为2n=14x +4=144,核型公式K(2n)=144=57m+84sm+3st.结果表明:薯蓣属是染色体数目和倍性复杂并且存在许多多倍体的植物群,核型上也存在一定差异.

  15. Acquired Zinc Deficiency in an Adult Female

    Mohanan Saritha; Divya Gupta; Laxmisha Chandrashekar; Devinder M Thappa; Nachiappa G Rajesh

    2012-01-01

    Acrodermatitis enteropathica is an autosomal recessive inherited disorder of zinc absorption. Acquired cases are reported occasionally in patients with eating disorders or Crohn′s disease. We report a 24-year-old housewife with acquired isolated severe zinc deficiency with no other comorbidities to highlight the rare occurrence of isolated nutritional zinc deficiency in an otherwise normal patient.

  16. And the Winner is – Acquired

    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...

  17. Abnormal Returns and Contrarian Strategies

    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.

  18. Radionuclide brain imaging in acquired immunodeficiency syndrome (AIDS)

    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 201Tl using quantification (tumour to non-tumour radioactivity ratios) appears a very promising technique to identify intracerebral lymphoma

  19. Radionuclide brain imaging in acquired immunodeficiency syndrome (AIDS)

    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.

  20. Adults with Chromosome 18 Abnormalities.

    Soileau, Bridgette; Hasi, Minire; Sebold, Courtney; Hill, Annice; O'Donnell, Louise; Hale, Daniel E; Cody, Jannine D

    2015-08-01

    The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child's future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q-, 18p-, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the TCF4 gene or who have unbalanced rearrangement involving other chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral phenotype of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post-high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long-term outcome for individuals with a chromosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child. PMID:25403900

  1. Dynamic karyotype evolution and unique sex determination systems in Leptidea wood white butterflies

    Šíchová, Jindra; Voleníková, A.; Dincă, A.; Nguyen, Petr; Vila, R.; Sahara, K.; Marec, František

    2015-01-01

    Roč. 15, č. 1 (2015), article number 89. ISSN 1471-2148 R&D Projects: GA AV ČR IAA600960925; GA ČR(CZ) GP14-35819P; GA ČR(CZ) GA14-22765S Grant ostatní: GA JU(CZ) 063/2012/P; Spanish Ministerio de Economia y Competitividad(ES) CGL2013-48277-P; GA JU(CZ) 052/2013/P; 7th European Community Framework Programme(CZ) 625997; JSPS(JP) 23380030 Institutional support: RVO:60077344 Keywords : Lepidoptera * wood white butteflies * karyotype variability Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.368, year: 2014 http://www.biomedcentral.com/content/pdf/s12862-015-0375-4.pdf

  2. The Trypanosoma cruzi Genome Project: Nuclear Karyotype and Gene Mapping of Clone CL Brener

    Marcia RM Santos

    1997-11-01

    Full Text Available By using improved pulsed field gel electrophoresis conditions, the molecular karyotype of the reference clone CL Brener selected for Trypanosoma cruzi genome project was established. A total of 20 uniform chromosomal bands ranging in size from 0.45 to 3.5 Megabase pairs (Mbp were resolved in a single run. The weighted sum of the chromosomal bands was approximately 87 Mbp. Chromoblots were hybridized with 39 different homologous probes, 13 of which identified single chromosomes. Several markers showed linkage and four different linkage groups were identified, each comprising two markers. Densitometric analysis suggests that most of the chromosomal bands contain two or more chromosomes representing either homologous chromosomes and/or heterologous chromosomes with similar sizes

  3. Karyotype of Philodryas nattereri and Philodryas olfersii with a comparative analysis of the Dipsadidae family.

    Nery, M D A; Alves, M A O; Aquino, H D; Nery, E A; Bezerra, L B M; Ribeiro, R T M; Monteiro, H S A

    2015-01-01

    Cytogenetic studies of Philodryas nattereri and Philodryas olfersii revealed a diploid chromosome number 2n = 36 for both species (3 metacentrics, 4 submetacentrics, and 10 acrocentrics, with a fundamental number of 51 and 52, respectively). The results obtained are novel and similar to those previously described for species belonging to the Dipsadidae family. The conventional karyotype is also novel and divergent from other species of the Dipsadidae family, where a higher proportion of macrochromosomes predominate, revealing two distinct groups in this family. The data are reported and discussed considering the cytotaxonomy of the family. These results strongly support the current view that chromosomal alterations, such as centric fusion and Robertsonian's translocations, seems to support the distinct importance of chromosomal rearrangements in speciation within this group. PMID:26125832

  4. Karyotypes and heterochromatin variation (C-bands in Melipona species (Hymenoptera, Apidae, Meliponinae

    Marla Piumbini Rocha

    1998-03-01

    Full Text Available We describe the karyotypes of eight bee species of the genus Melipona and compare them in terms of heterochromatin content and location (C-banding technique. All species had 2n = 18 (females and n = 9 (males chromosomes, but a wide variation in heterochromatin content was detected among karyotypes. On the basis of these differences, the species were divided into two functional groups, one of them comprising species with a karyotype having a low heterochromatin content (M. bicolor bicolor, M. quadrifasciata, M. marginata, and M. asilvai, and the other species with a high heterochromatin content (M. seminigra fuscopilosa, M. capixaba, M. scutellaris, and M. captiosa. In the species with high heterochromatin content, heterochromatin occupied practically the entire extent of all chromosomes, with euchromatin being limited to the extremities, a fact that prevented observation of the centromere. In contrast, in the species with karyotypes having a low heterochromatin content, heterochromatin was visualized only in some chromosomes. In the chromosomes in which it was present, heterochromatin was located in the centromere or on the short arm. M. bicolor bicolor had the smallest heterochromatin content with only three chromosome pairs presenting heterochromatin in females. Increased heterochromatin content may be explained by interstitial and pericentromeric growth.Este trabalho descreve os cariótipos de oito espécies de abelhas do gênero Melipona, relacionando-os por meio do conteúdo e localização da heterocromatina (técnica de banda C. Todas as espécies estudadas apresentaram 2n = 18 (fêmea e n = 9 (macho cromossomos, entretanto encontrou-se uma grande variação no conteúdo de heterocromatina entre seus cariótipos, o que permitiu separá-los em dois grupos funcionais: um reunindo espécies de cariótipo com baixo conteúdo de heterocromatina (M. bicolor bicolor, M. quadrifasciata, M. marginata e M. asilvai e o outro com cariótipo de alto

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

    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. PMID:24260621

  6. Optimasi Penambahan Colcemid pada Karyotyping Kultur Mecenchymal Stem Cells (MSC Mencit

    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

  7. 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

    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

  8. Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation

    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

  9. Cytotaxonomy of Eurypyga helias (Gruiformes, Eurypygidae: First Karyotypic Description and Phylogenetic Proximity with Rynochetidae.

    Ivanete de Oliveira Furo

    Full Text Available The sunbittern (Eurypyga helias is a South American Gruiformes, the only member of Family Eurypigidae. In most phylogenetic proposals, it is placed in a more distant position than other families of the so-called "core Gruiformes". Different studies based on molecular, morphological and biogeographical data suggest that the Eurypigidae is closely related to the kagu (Rhynochetos jubatus, the only species in Rynochetidae, another family not included in the core Gruiformes. Here, the karyotype of the sunbittern is described for the first time, by classical and molecular cytogenetics, using whole chromosome probes derived from Gallus gallus and Leucopternis albicollis. We found a diploid number of 80, with only one pair of biarmed autosomal macrochromosomes, similar to that observed in the kagu. Chromosome painting revealed that most syntenies found in the avian putative ancestral karyotype (PAK were conserved in the sunbittern. However, PAK1, PAK2, and PAK5 corresponded to two chromosome pairs each. Probes derived from L. albicollis confirm that fissions in PAK1 and PAK2 were centric, whereas in PAK5 the fission is interstitial. In addition, there is fusion of segments homologous to PAK2q and PAK5. From a phylogenetic point of view, comparisons of our results with two other Gruiformes belonging to family Rallidae suggest that the PAK5q fission might be a synapomorphy for Gruiformes. Fissions in PAK1 and PAK2 are found only in Eurypigidae, and might also occur in Rynochetidae, in view of the similar chromosomal morphology between the sunbittern and the kagu. This suggests a close phylogenetic relationship between Eurypigidae and Rynochetidae, whose common ancestor was separated by the Gondwana vicariancy in South America and New Caledonia, respectively.

  10. Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes

    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.

  11. Karyotype characterization, constitutive heterochromatin and nucleolus organizer regions of Paranaita opima (Coleoptera, Chrysomelidae, Alticinae

    Mara Cristina de Almeida

    2006-01-01

    Full Text Available Species of the subtribe Oedionychina not only have a highly uniform diploid number of 2n = 22 (20+X+y but have the karyotypic peculiarity of possessing extremely large sex chromosomes. We analyzed Paranaita opima embryos and gonadal cells to determine their diploid number, chromosomal morphology, type of sex determination system, constitutive heterochromatin pattern and which chromosomes bear nucleolus organizer regions (NORs. The diploid number of P. opima was 2n = 22 (20+XY/XX with all chromosomes being metacentric. Chromosome pair 6 showed an interstitial secondary constriction on the short arm. The C-banding technique revealed centromeric constitutive heterochromatin in all chromosomes, which, in pair 6, extended up to the secondary constriction of the short arm, additional C-bands also being present on the Y chromosome. Silver nitrate nucleolar organizer region (Ag-NOR staining showed NORs on the secondary constriction of pair 6. Fluorochrome analysis with chromomycin A3 (CMA3, 4'-6-diamidino-2-phenylindole (DAPI and the distamycin A (DA counterstain showed that the short arm of chromosome pair 6 exhibited a GC-rich block extending from the proximal to the median region, including part of the secondary constriction. The same techniques also showed AT-rich blocks at the centromeric region of all chromosomes and at the terminal region of the short arm of pair 6. The basic karyotype characteristics and C band pattern of P. opima are similar to those described for other species in the subtribe Oedionychina. The pattern of autosomal NORs observed in P. opima corresponds to that registered in the majority of the Chrysomelidae species.

  12. Cytotaxonomy of Eurypyga helias (Gruiformes, Eurypygidae): First Karyotypic Description and Phylogenetic Proximity with Rynochetidae

    dos Santos, Michelly da Silva; Tagliarini, Marcella Mergulhão; O´Brien, Patricia C. M.; Ferguson-Smith, Malcolm A.; de Oliveira, Edivaldo H. C.

    2015-01-01

    The sunbittern (Eurypyga helias) is a South American Gruiformes, the only member of Family Eurypigidae. In most phylogenetic proposals, it is placed in a more distant position than other families of the so-called “core Gruiformes”. Different studies based on molecular, morphological and biogeographical data suggest that the Eurypigidae is closely related to the kagu (Rhynochetos jubatus), the only species in Rynochetidae, another family not included in the core Gruiformes. Here, the karyotype of the sunbittern is described for the first time, by classical and molecular cytogenetics, using whole chromosome probes derived from Gallus gallus and Leucopternis albicollis. We found a diploid number of 80, with only one pair of biarmed autosomal macrochromosomes, similar to that observed in the kagu. Chromosome painting revealed that most syntenies found in the avian putative ancestral karyotype (PAK) were conserved in the sunbittern. However, PAK1, PAK2, and PAK5 corresponded to two chromosome pairs each. Probes derived from L. albicollis confirm that fissions in PAK1 and PAK2 were centric, whereas in PAK5 the fission is interstitial. In addition, there is fusion of segments homologous to PAK2q and PAK5. From a phylogenetic point of view, comparisons of our results with two other Gruiformes belonging to family Rallidae suggest that the PAK5q fission might be a synapomorphy for Gruiformes. Fissions in PAK1 and PAK2 are found only in Eurypigidae, and might also occur in Rynochetidae, in view of the similar chromosomal morphology between the sunbittern and the kagu. This suggests a close phylogenetic relationship between Eurypigidae and Rynochetidae, whose common ancestor was separated by the Gondwana vicariancy in South America and New Caledonia, respectively. PMID:26624624

  13. Acquired zinc deficiency in association with anorexia nervosa: case report and review of the literature.

    Van Voorhees, A S; Riba, M

    1992-09-01

    Zinc deficiency, whether a result of an acquired or inherited abnormality of zinc metabolism, is associated with characteristic cutaneous findings. The inherited variety is known as acrodermatitis enteropathica. We present a case of zinc deficiency secondary to starvation induced by anorexia nervosa. Since the cutaneous stigmata of zinc deficiency and anorexia nervosa can initially be subtle and occasionally overlap, we believe that screening zinc levels in patients with anorexia nervosa with prominent cutaneous findings should be considered. PMID:1488378

  14. Progressive multifocal leukoence-phalopathy presenting as homonymous hemianopia in a patient with acquired immunodeficiency syndrome

    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.

  15. Bubble Hair and Other Acquired Hair Shaft Anomalies due to Hot Ironing on Wet Hair

    Savitha, AS; Sacchidanand, S; Revathy, TN

    2011-01-01

    Bubble hair is an acquired hair shaft abnormality characterized by multiple airfilled spaces within the hair shaft. It is a result of thermal injury. We report a classic case of 22-year-old female who complained of dry brittle hair of two-week duration. Patient had used hot iron on wet hair twice to straighten hair. Hair microscopy was diagnostic and showed multiple air-filled spaces within the hair shaft.

  16. Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping

    Prabhat Ranjan

    2013-01-01

    Full Text Available The presence of derivative chromosome in a child with phenotypic features necessitates the need of parental karyotyping to ascertain the exact amount of loss or gain of the genetic material. The aim of this study was to emphasize the importance of parental karyotyping. Cytogenetic evaluation of the proband and his father were carried out at Laboratory. Cytogenetic analysis was performed on phytohemagglutinin stimulated cultures. The derivative chromosome 11 in proband was ascertained to have additional material from chromosome 6p arising from complex chromosomal rearrangement in the father. Karyotyping is the basic, cost-effective preliminary investigation in a child with mental subnormality or congenital anomalies.

  17. Comparison of the Giemsa C-banded and N-banded karyotypes of two Elymus species, E. dentatus and E. glaucescens (Poaceae; Triticeae)

    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...... and six satellited chromosomes. The karyotype of E. glaucescens resembled that of E. dentatus, but a satellited chromosome pair was replaced by a morphologically similar, non-satellited pair. The C-banding patterns of both species had from one to five conspicuous and a few inconspicuous bands per...

  18. Lithium treatment and thyroid abnormalities

    Bocchetta Alberto

    2006-09-01

    autoimmunity do not much differ from those observed in the general population; h hyperthyroidism and thyroid cancer are observed rarely during lithium treatment. Recommendations Thyroid function tests (TSH, free thyroid hormones, specific antibodies, and ultrasonic scanning should be performed prior to starting lithium prophylaxis. A similar panel should be repeated at one year. Thereafter, annual measurements of TSH may be sufficient to prevent overt hypothyroidism. In the presence of raised TSH or thyroid autoimmunity, shorter intervals between assessments are advisable (4–6 months. Measurement of antibodies and ultrasonic scanning may be repeated at 2-to-3-year intervals. The patient must be referred to the endocrinologist if TSH concentrations are repeatedly abnormal, and/or goitre or nodules are detected. Thyroid function abnormalities should not constitute an outright contraindication to lithium treatment, and lithium should not be stopped if a patient develops thyroid abnormalities. Decisions should be made taking into account the evidence that lithium treatment is perhaps the only efficient means of reducing the excessive mortality which is otherwise associated with affective disorders.

  19. Gallium-67 scans of the chest in patients with acquired immunodeficiency syndrome

    Eighty-six [67Ga]citrate chest scans were performed in 71 adult patients with the acquired immunodeficiency syndrome. Forty-five of these patients also had Kaposi's sarcoma. Only 29 of 57 abnormal scans were correlated with abnormal chest radiographs. Chest radiographs were negative for 27 scans and unavailable for one. Several scan patterns were seen. Diffusely increased lung uptake was seen most commonly with Pneumocystis carinii pneumonia, but also other infections and noninfectious inflammatory conditions. Focal uptake corresponding to regional lymph node groups occurred most often with Mycobacterium avium-intracellulare but aslo with lymphoma. Localized intrapulmonary uptake was seen in bacterial pneumonias. Perihilar activity occurred in two cases. When chest radiographs were abnormal and 67Ga scans negative, the most common diagnosis was pulmonary Kaposi's sarcoma

  20. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    Daniela Mierla; Viorica Radoi; Veronica Stoian

    2012-01-01

    Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, ka...