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Sample records for additional chromosome abnormalities

  1. Alterations and abnormal mitosis of wheat chromosomes induced by wheat-rye monosomic addition lines.

    Shulan Fu

    Full Text Available BACKGROUND: Wheat-rye addition lines are an old topic. However, the alterations and abnormal mitotic behaviours of wheat chromosomes caused by wheat-rye monosomic addition lines are seldom reported. METHODOLOGY/PRINCIPAL FINDINGS: Octoploid triticale was derived from common wheat T. aestivum L. 'Mianyang11'×rye S. cereale L. 'Kustro' and some progeny were obtained by the controlled backcrossing of triticale with 'Mianyang11' followed by self-fertilization. Genomic in situ hybridization (GISH using rye genomic DNA and fluorescence in situ hybridization (FISH using repetitive sequences pAs1 and pSc119.2 as probes were used to analyze the mitotic chromosomes of these progeny. Strong pSc119.2 FISH signals could be observed at the telomeric regions of 3DS arms in 'Mianyang11'. However, the pSc119.2 FISH signals were disappeared from the selfed progeny of 4R monosomic addition line and the changed 3D chromosomes could be transmitted to next generation stably. In one of the selfed progeny of 7R monosomic addition line, one 2D chromosome was broken and three 4A chromosomes were observed. In the selfed progeny of 6R monosomic addition line, structural variation and abnormal mitotic behaviour of 3D chromosome were detected. Additionally, 1A and 4B chromosomes were eliminated from some of the progeny of 6R monosomic addition line. CONCLUSIONS/SIGNIFICANCE: These results indicated that single rye chromosome added to wheat might cause alterations and abnormal mitotic behaviours of wheat chromosomes and it is possible that the stress caused by single alien chromosome might be one of the factors that induced karyotype alteration of wheat.

  2. 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.

  3. Additional chromosome abnormalities in patients with acute promyelocytic leukemia treated with all-trans retinoic acid and chemotherapy

    Cervera, Jose; Montesinos, Pau; Hernandez-Rivas, Jesus M.; Calasanz, Maria J.; Aventin, Anna; Ferro, Maria T.; Luno, Elisa; Sanchez, Javier; Vellenga, Edo; Rayon, Chelo; Milone, Gustavo; de la Serna, Javier; Rivas, Concha; Gonzalez, Jose D.; Tormo, Mar; Amutio, Elena; Gonzalez, Marcos; Brunet, Salut; Lowenberg, Bob; Sanz, Miguel A.

    2010-01-01

    Background Acute promyelocytic leukemia is a subtype of acute myeloid leukemia characterized by the t(15;17). The incidence and prognostic significance of additional chromosomal abnormalities in acute promyelocytic leukemia is still a controversial matter. Design and Methods Based on cytogenetic dat

  4. Additional chromosome abnormalities in patients with acute promyelocytic leukemia treated with all-trans retinoic acid and chemotherapy

    J. Cervera (José); P. Montesinos (Pau); J.M. Hernandez-Rivas (J. M.); M.J. Calasanz (Maria); A. Aventín (Anna); M.T. Ferro (María); E. Luño (Elisa); J. Sánchez (Javier); E. Vellenga (Edo); C. Rayón (Chelo); G. Milone (Gustavo); J. de Serna (Javier); C. Rivas (Concha); J.D. González (José David); M. Tormo (Mar); E. Amutio (Elena); S. Brunet (Salut); B. Löwenberg (Bob); M.A. Sanz (Miguel Angel)

    2010-01-01

    textabstractBackground: Acute promyelocytic leukemia is a subtype of acute myeloid leukemia characterized by the t(15;17). The incidence and prognostic significance of additional chromosomal abnormalities in acute promyelocytic leukemia is still a controversial matter. Design and Methods: Based on c

  5. Chromosomal phenotypes and submicroscopic abnormalities

    Devriendt Koen

    2004-01-01

    Full Text Available Abstract The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/duplicated region, abnormal dosage of genes located within these regions can explain the phenotypic similarities among individuals with a specific syndrome. As such, they provide a unique resource towards the genetic dissection of complex phenotypes such as congenital heart defects, mental and growth retardation and abnormal behaviour. In addition, the study of phenotypic differences in individuals with the same microdeletion syndrome may also become a treasury for the identification of modifying factors for complex phenotypes. The molecular analysis of these chromosomal anomalies has led to a growing understanding of their mechanisms of origin. Novel tools to uncover additional submicroscopic chromosomal anomalies at a higher resolution and higher speed, as well as the novel tools at hand for deciphering the modifying factors and epistatic interactors, are 'on the doorstep' and will, besides their obvious diagnostic role, play a pivotal role in the genetic dissection of complex phenotypes.

  6. 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.

  7. Numerically abnormal chromosome constitutions in humans

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  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. Meiotic chromosome abnormalities in human spermatogenesis.

    Martin, Renée H

    2006-08-01

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

  10. Advances in understanding paternally transmitted Chromosomal Abnormalities

    Marchetti, F; Sloter, E; Wyrobek, A J

    2001-03-01

    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  11. Abnormal Chromosome Segregation May Trigger Tumors

    2005-01-01

    @@ Cancer is a primary threat to human health as it kills millions of people each year.Scientists have shown that 75% of human cancers have an abnormal number of chromosomes in cells,and the proportion of the cells with an abnormal chromosome number is tightly and positively related to malignance progression and metastasis of cancers. But the pathological mechanism behind the anomaly still remains unknown.

  12. Fetal calcifications are associated with chromosomal abnormalities.

    Ellika Sahlin

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

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

    Ravel, C; Siffroi, J-P

    2009-06-01

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

  14. XYY chromosome abnormality in sexual homicide perpetrators.

    Briken, Peer; Habermann, Niels; Berner, Wolfgang; Hill, Andreas

    2006-03-05

    In a retrospective investigation of the court reports about sexual homicide perpetrators chromosome analysis had been carried out in 13 of 166 (7.8%) men. Three men (1.8%) with XYY chromosome abnormality were found. This rate is much higher than that found in unselected samples of prisoners (0.7-0.9%) or in the general population (0.01%). The three men had shown prepubescent abnormalities, school problems, and had suffered from physical abuse. The chromosome analysis in all cases had been carried out in connection with the forensic psychiatric court report due to the sexual homicide. However, two men had earlier psychiatric referrals. All were diagnosed as sexual sadistic, showed a psychopathic syndrome or psychopathy according to the Psychopathy Checklist-Revised [Hare RD, 1991, The Hare Psychopathy Checklist-Revised, Toronto, Ontario, Canada: Multi-Health Systems]. Two were multiple murderers. Especially forensic psychiatrists should be vigilant of the possibility of XYY chromosome abnormalities in sexual offenders.

  15. Association of MTHFR Polymorphisms and Chromosomal Abnormalities in Leukemia

    Thivaratana Sinthuwiwat

    2012-01-01

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

  16. 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.

  17. First trimester ultrasound screening of chromosomal abnormalities

    Trninić-Pjević Aleksandra

    2007-01-01

    Full Text Available Introduction: A retrocervical subcutaneous collection of fluid at 11-14 weeks of gestation, can be visualized by ultrasound as nuchal translucency (NT. Objective. To examine the distribution of fetal nuchal translucency in low risk population, to determine the detection rate of chromosomal abnormalities in the population of interest based on maternal age and NT measurement. Method. Screening for chromosomal defects, advocated by The Fetal Medicine Foundation (FMF, was performed in 1,341 pregnancies in the period January 2000 - April 2004. Initial risk for chromosomal defects (based on maternal and gestational age and corrected risk, after the NT measurement, were calculated. Complete data were collected from 1,048 patients. Results. Out of 1,048 pregnancies followed, 8 cases of Down’s syndrome were observed, 7 were detected antenatally and 6 out of 7 were detected due to screening that combines maternal age and NT measurement. According to our results, sensitivity of the screening for aneuploidies based on maternal age alone was 12.5% and false positive rate 13.1%, showing that screening based on NT measurement is of great importance. Screening by a combination of maternal age and NT, and selecting a screening-positive group for invasive testing enabled detection of 75% of fetuses with trisomy 21. Conclusion. In screening for chromosomal abnormalities, an approach which combines maternal age and NT is effective and increases the detection rate compared to the use of any single test. .

  18. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

    Franssen, M. T. M.; Korevaar, J. C.; Tjoa, W. M.; Leschot, N. J.; Bossuyt, P. M. M.; Knegt, A. C.; Suykerbuyk, R. F.; Hochstenbach, R.; van der Veen, F.; Goddijn, M.

    2008-01-01

    Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnorma

  19. Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

    Karra, Vijay Kumar; Jindal, Ankur; Puppala, Madhavi; Singh, Pratiksha; Rawat, Kanchan; Kapoor, Seema

    2016-01-01

    Introduction Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. Aim The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis. Materials and Methods Total of 859 patients ranging from newborn to 37 years of age were referred to the division of genetics, Department of Paediatrics between 2010 and 2015, with a variety of clinical disorders; Down syndrome (DS), Turner’s syndrome (TS) and Klinefelter syndrome; amenorrhea; ambiguous sex and multiple congenital malformations. Chromosomal analysis was performed on lymphocyte culture according to standard methods. Results Of the 859 cases studied, 371 (43.1%) had chromosomal abnormalities. The most common autosomal abnormalities were DS 302 (81.4%) and sex chromosomal abnormalities were TS 51 (13.7%). Numerical abnormalities were accounted for 353 (41.0%) and structural abnormalities 18 (2.0%), respectively. Various other chromosomal anomalies were also reported. Conclusion We have reviewed the incidence and distribution of chromosomal abnormalities and found higher rate of chromosomal abnormalities 43.1% in the referred cases. Our data suggest that chromosomal analysis is important tool in the evaluation of genetic disorders and helps clinicians to provide accurate diagnosis and proper genetic counselling. PMID:27790464

  20. Chromosomal abnormalities associated with mental retardation in female subjects

    Dutta Samikshan

    2009-01-01

    Full Text Available Chromosomal abnormalities are thought to be the most common cause of mental retardation (MR. However, apart from a few selected types with typical aneuploidy, like Downs syndrome, Klinefelter syndrome, Turner syndrome, etc., the frequency of detectable chromosomal abnormalities in association with idiopathic MR is very low. In this study, we have investigated chromosomal abnormalities in female MR subjects (n = 150 by high-resolution GTG banding. Of them, 30 cases were diagnosed as Downs syndrome. Among the remaining (n = 120, chromosomal abnormalities/marked polymorphisms were detectable in only three MR cases (0.025.

  1. Chromosomal abnormalities associated with mental retardation in female subjects.

    Dutta, Samikshan; Shaw, Jyothi; Sinha, Swagata; Mukhopadhyay, Kanchan

    2009-01-01

    Chromosomal abnormalities are thought to be the most common cause of mental retardation (MR). However, apart from a few selected types with typical aneuploidy, like Downs syndrome, Klinefelter syndrome, Turner syndrome, etc., the frequency of detectable chromosomal abnormalities in association with idiopathic MR is very low. In this study, we have investigated chromosomal abnormalities in female MR subjects (n = 150) by high-resolution GTG banding. Of them, 30 cases were diagnosed as Downs syndrome. Among the remaining (n = 120), chromosomal abnormalities/marked polymorphisms were detectable in only three MR cases (0.025).

  2. 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.

  3. Visualizing how cancer chromosome abnormalities form in living cells

    For the first time, scientists have directly observed events that lead to the formation of a chromosome abnormality that is often found in cancer cells. The abnormality, called a translocation, occurs when part of a chromosome breaks off and becomes attac

  4. A Case of ADHD and a Major Y Chromosome Abnormality

    Mulligan, Aisling; Gill, Michael; Fitzgerald, Michael

    2008-01-01

    Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm.…

  5. 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.

  6. Chromosome abnormalities in Indonesian patients with short stature

    Paramayuda Chrysantine

    2012-08-01

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

  7. Abnormal sex chromosome constitution and longitudinal growth

    Aksglaede, Lise; Skakkebaek, Niels E; Juul, Anders

    2008-01-01

    Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles.......Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles....

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

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

    2008-01-01

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

  9. Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly.

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

    2014-07-01

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

  10. Chromosomal abnormalities, meiotic behavior and fertility in domestic animals.

    Villagómez, D A F; Pinton, A

    2008-01-01

    Since the advent of the surface microspreading technique for synaptonemal complex analysis, increasing interest in describing the synapsis patterns of chromosome abnormalities associated with fertility of domestic animals has been noticed during the past three decades. In spite of the number of scientific reports describing the occurrence of structural chromosome abnormalities, their meiotic behavior and gametic products, little is known in domestic animal species about the functional effects of such chromosome aberrations in the germ cell line of carriers. However, some interesting facts gained from recent and previous studies on the meiotic behavior of chromosome abnormalities of domestic animals permit us to discuss, in the frame of recent knowledge emerging from mouse and human investigations, the possible mechanism implicated in the well known association between meiotic disruption and chromosome pairing failure. New cytogenetic techniques, based on molecular and immunofluorescent analyses, are allowing a better description of meiotic processes, including gamete production. The present communication reviews the knowledge of the meiotic consequences of chromosome abnormalities in domestic animals.

  11. Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in Mexico.

    De la Fuente-Cortés, Beatriz E; Cerda-Flores, Ricardo M; Dávila-Rodríguez, Martha I; García-Vielma, Catalina; De la Rosa Alvarado, Rosa M; Cortés-Gutiérrez, Elva I

    2009-04-01

    Cytogenetic studies have an important role in the evaluation of couples with repeated miscarriages and poor obstetric history. To estimate the prevalence of chromosomal abnormalities and polymorphic variants in 158 couples with repeated miscarriages, a cross-sectional study was conducted in Monterrey, Mexico from 1995 to 2003. Peripheral blood lymphocytes were cultured for chromosomal studies using standard methods. Twelve couples showed chromosomal abnormalities (7.60%), two Robertsonian translocations (1.27%), two balanced translocations (1.27%), one inversion (0.63%), and one a novel insertion (0.63%). This insertion [46, XX, ins (15;8) (q26;p11p23)] is unique, and is the third reported in association with repeated abortion. Mosaicism was observed in six couples (3.80%, three with structural abnormalities and three with numerical abnormalities). A female to male ratio of 1.4:1 was observed. In addition to these chromosomal abnormalities, polymorphic variants in constitutive heterochromatin of the 1qh+, 9qh+, and 16qh+ chromosomes were observed in 25 couples (15.82%), of the Yqh+ chromosome in 21 couples (13.29%), and of satellite in 35 couples (22.15%). In conclusion, chromosome analysis is necessary for appropriate clinical management of these patients.

  12. Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment

    Kim You

    2010-11-01

    Full Text Available Abstract Background We evaluated cytogenetic results occurring with first trimester pregnancy loss, and assessed the type and frequency of chromosomal abnormalities after assisted reproductive treatment (ART and compared them with a control group. We also compared the rate of chromosomal abnormalities according to infertility causes in ICSI group. Methods A retrospective cohort analysis was made of all patients who were referred to the Genetics Laboratory of Fertility Center of CHA Gangnam Medical Center from 2005 to 2009 because of clinical abortion with a subsequent dilation and evacuation (D&E performed, and patients were grouped by type of conception as follows: conventional IVF (in vitro fertilization (n = 114, ICSI (intracytoplasmic sperm injection (n = 140, and control (natural conception or intrauterine insemination [IUI] (n = 128. Statistical analysis was performed using SPSS software. Results A total 406 specimens were referred to laboratory, ten abortuses were excluded, and in 14 cases, we did not get any spontaneous metaphase, chromosomal constitutions of 382 specimens were successfully obtained with conventional cytogenetic methods. Overall, 52.62% of the miscarriages were found to be cytogenetically abnormal among all patients, the frequency was 48.4% in the control group, 54.3% of miscarriages after ICSI and 55.3% after conventional IVF (p = 0.503. The most prevalent abnormalities were autosomal trisomy, however, nine (11.69% sex chromosome aneuploidy were noted in the ICSI group vs. four (6.45% and two (3.23% cases in the conventional IVF group and control group. We compared chromosomal abnormalities of miscarriages after ICSI according to infertility factor. 55.71% underwent ICSI due to male factors, 44.29% due to non-male factors. ICSI group having male factors showed significantly higher risk of chromosomal abnormalities than ICSI group having non-male factors (65.8% vs. 34.2%, p = 0.009, odds ratio = 1.529, 95% CI = 1

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

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

    2012-01-01

    We report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the case was carried out on peripheral blood lymphocyte culture. Classic cytogenetic analysis (G and C banding) was confirmed by using fluorescence in situ hybridization analysis (FISH) technique. Cytogenetic and FISH analysis showed a mosaic 46,X,i(Yq)/45,X/47,...

  14. Molecular cytogenetic studies in structural abnormalities of chromosome 13

    Lozzio, C.B.; Bamberger, E.; Anderson, I. [Univ. of Tennessee, Knoxville, TN (United States)] [and others

    1994-09-01

    A partial trisomy 13 was detected prenatally in an amniocentesis performed due to the following ultrasound abnormalities: open sacral neural tube defect (NTD), a flattened cerebellum, and lumbar/thoracic hemivertebrae. Elevated AFP and positive acetylcholinesterase in amniotic fluid confirmed the open NTD. Chromosome analysis showed an extra acrocentric chromosome marker. FISH analysis with the painting probe 13 showed that most of the marker was derived from this chromosome. Chromosomes on the parents revealed that the mother had a balanced reciprocal translocation t(2;13)(q23;q21). Dual labeling with painting chromosomes 2 and 13 on cells from the mother and from the amniotic fluid identified the marker as a der(13)t(2;13)(p23;q21). Thus, the fetus had a partial trisomy 13 and a small partial trisomy 2p. The maternal grandfather was found to be a carrier for this translocation. Fetal demise occurred a 29 weeks of gestation. The fetus had open lumbar NTD and showed dysmorphic features, overlapping fingers and imperforate anus. This woman had a subsequent pregnancy and chorionic villi sample showed that this fetus was normal. Another case with an abnormal chromosome 13 was a newborn with partial monosomy 13 due to the presence of a ring chromosome 13. This infant had severe intrauterine growth retardation, oligohydramnios, dysmorphic features and multiple congenital microphthalmia, congenital heart disease, absent thumbs and toes and cervical vertebral anomalies. Chromosome studies in blood and skin fibroblast cultures showed that one chromosome 3 was replaced by a ring chromosome of various sizes. This ring was confirmed to be derived from chromosome 13 using the centromeric 21/13 probe.

  15. Testicular microlithiasis in two boys with a chromosomal abnormality

    Joery Goede

    2012-01-01

    Full Text Available A nine and 13-year-old boy, previously diagnosed with 18q syndrome and an 11q deletion, respectively were diagnosed with testicular microlithiasis (TM. Both cases demonstrate that TM occurs in patients with various chromosomal abnormalities

  16. Prenatal detection of rare chromosomal autosomal abnormalities in Europe

    Baena, N; De Vigan, C; Cariati, E; Clementi, M; Stoll, C; Caballin, MR; Guitart, M

    2003-01-01

    The aim of the present study was to evaluate the prenatal detection of rare chromosomal autosomal abnormalities by ultrasound (US) examination. Data were obtained from 19 congenital malformation registries from 11 European countries, between 01/07/96 and 31/12/98. A total of 664,340 births were cove

  17. Chromosomal abnormalities are associated with aging and cancer

    Two new studies have found that large structural abnormalities in chromosomes, some of which have been associated with increased risk of cancer, can be detected in a small fraction of people without a prior history of cancer. The studies found that these

  18. Mechanisms and consequences of paternally transmitted chromosomal abnormalities

    Marchetti, F; Wyrobek, A J

    2005-04-05

    Paternally transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes. There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission and early embryonic consequences of paternally-derived chromosomal abnormalities. The available evidence suggests that: (1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage with male postmeiotic cells being the most sensitive; (2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and, (3) there are maternally susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and directly affect the risk for abnormal reproductive outcomes.

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

    Lv, Wei; Wang, Shuyu

    2014-11-01

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

  20. 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.

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

    Gregório Lorenzo Acácio

    2001-01-01

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

  2. Telomere dysfunction and chromosome structure modulate the contribution of individual chromosomes in abnormal nuclear morphologies

    Pampalona, J.; Soler, D.; Genesca, A. [Department of Cell Biology, Physiology and Immunology, Universitat Autonoma de Barcelona, Bellaterra E-08193 (Spain); Tusell, L., E-mail: laura.tusell@uab.es [Department of Cell Biology, Physiology and Immunology, Universitat Autonoma de Barcelona, Bellaterra E-08193 (Spain)

    2010-01-05

    The cytokinesis-block micronucleus assay has emerged as a biomarker of chromosome damage relevant to cancer. Although it was initially developed to measure micronuclei, it is also useful for measuring nucleoplasmic bridges and nuclear buds. Abnormal nuclear morphologies are frequently observed in malignant tissues and short-term tumour cell cultures. Changes in chromosome structure and number resulting from chromosome instability are important factors in oncogenesis. Telomeres have become key players in the initiation of chromosome instability related to carcinogenesis by means of breakage-fusion-bridge cycles. To better understand the connection between telomere dysfunction and the appearance of abnormal nuclear morphologies, we have characterised the presence of micronuclei, nucleoplasmic bridges and nuclear buds in human mammary primary epithelial cells. These cells can proliferate beyond the Hayflick limit by spontaneously losing expression of the p16{sup INK4a} protein. Progressive telomere shortening leads to the loss of the capping function, and the appearance of end-to-end chromosome fusions that can enter into breakage-fusion-bridge cycles generating massive chromosomal instability. In human mammary epithelial cells, different types of abnormal nuclear morphologies were observed, however only nucleoplasmatic bridges and buds increased significantly with population doublings. Fluorescent in situ hybridisation using centromeric and painting specific probes for chromosomes with eroded telomeres has revealed that these chromosomes are preferentially included in the different types of abnormal nuclear morphologies observed, thus reflecting their common origin. Accordingly, real-time imaging of cell divisions enabled us to determine that anaphase bridge resolution was mainly through chromatin breakage and the formation of symmetric buds in daughter nuclei. Few micronuclei emerged in this cell system thus validating the scoring of nucleoplasmic bridges and

  3. Fetal Sonography for the Detection of Chromosomal Abnormality

    Song, Mi Jin [Cheil General Hospital and Women' s Healthcare Center, Kwandong University College of Medicine, Gangneung (Korea, Republic of)

    2011-06-15

    Over the past decade, women's health clinicians have witnessed a shift of the paradigm for the approach to prenatal screening for chromosomal abnormalities. From an emphasis on age-based invasive diagnostic tests, women are now being offered a variety of noninvasive screening tests. Although there is exciting research and innovation in the field of noninvasive testing for fetal aneuploidy, there are currently two tests, and both are invasive, that are used in a routine manner to determine the presence of fetal aneuploidy: chorionic villous sampling and amniocentesis. The aim of this review was to investigate the effectiveness of prenatal sonography, including first trimester nuchal translucency screening and second trimester genetic sonography, for obtaining valid chromosomal abnormality screening test results

  4. CHROMOSOMAL ABNORMALITIES IN A REFERRED POPULATION: A REPORT OF 383 IRANIAN CASES

    M. T. Akbari.

    1998-07-01

    Full Text Available This report presents the cytogenetic findings (G -banded chromosomal analysis} in 383 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. Chromosomal aberrations were found in 63 116.5% of these cases, free trisomy 21 (7% being the most common abnormality , followed by 47, XXYkaryotype (4%. The breakdown figures for each group is discussed in the text.

  5. 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

  6. Dialkyl Phosphate Urinary Metabolites and Chromosomal Abnormalities in Human Sperm

    Figueroa, Zaida I.; Young, Heather A.; Meeker, John D.; Martenies, Sheena E.; Barr, Dana Boyd; Gray, George; Perry, Melissa J.

    2015-01-01

    Background The past decade has seen numerous human health studies seeking to characterize the impacts of environmental exposures, such as organophosphate (OP) insecticides, on male reproduction. Despite an extensive literature on OP toxicology, many hormone-mediated effects on the testes are not well understood. Objectives This study investigated environmental exposures to OPs and their association with the frequency of sperm chromosomal abnormalities (i.e., disomy) among adult men. Methods Men (n=159) from a study assessing the impact of environmental exposures on male reproductive health were included in this investigation. Multi-probe fluorescence in situ hybridization (FISH) for chromosomes X, Y, and 18 was used to determine XX18, YY18, XY18 and total disomy in sperm nuclei. Urine was analyzed using gas chromatography coupled with mass spectrometry for concentrations of dialkyl phosphate (DAP) metabolites of OPs [dimethylphosphate (DMP); dimethylthiophosphate (DMTP); dimethyldithiophosphate (DMDTP); diethylphosphate (DEP); diethylthiophosphate (DETP); and diethyldithiophosphate (DEDTP)]. Poisson regression was used to model the association between OP exposures and disomy measures. Incidence rate ratios (IRRs) were calculated for each disomy type by exposure quartiles for most metabolites, controlling for age, race, BMI, smoking, specific gravity, total sperm concentration, motility, and morphology. Results A significant positive trend was seen for increasing IRRs by exposure quartiles of DMTP, DMDTP, DEP and DETP in XX18, YY18, XY18 and total disomy. A significant inverse association was observed between DMP and total disomy. Findings for total sum of DAP metabolites concealed individual associations as those results differed from the patterns observed for each individual metabolite. Dose-response relationships appeared nonmonotonic, with most of the increase in disomy rates occurring between the second and third exposure quartiles and without additional

  7. ETOPOSIDE INDUCES CHROMOSOMAL ABNORMALITIES IN SPERMATOCYTES AND SPERMATOGONIAL STEM CELLS

    Marchetti, F; Pearson, F S; Bishop, J B; Wyrobek, A J

    2005-07-15

    Etoposide (ET) is a chemotherapeutic agent widely used in the treatment of leukemia, lymphomas and many solid tumors, such as testicular and ovarian cancers, that affect patients in their reproductive years. The purpose of the study was to use sperm FISH analyses to characterize the long-term effects of ET on male germ cells. We used a mouse model to characterize the induction of chromosomal aberrations (partial duplications and deletions) and whole chromosomal aneuploidies in sperm of mice treated with a clinical dose of ET. Semen samples were collected at 25 and 49 days after dosing to investigate the effects of ET on meiotic pachytene cells and spermatogonial stem-cells, respectively. ET treatment resulted in major increases in the frequencies of sperm carrying chromosomal aberrations in both meiotic pachytene (27- to 578-fold) and spermatogonial stem-cells (8- to 16-fold), but aneuploid sperm were induced only after treatment of meiotic cells (27-fold) with no persistent effects in stem cells. These results demonstrate that male meiotic germ cells are considerably more sensitive to ET than spermatogonial stem-cell and that increased frequencies of sperm with structural aberrations persist after spermatogonial stem-cell treatment. These findings predict that patients who undergo chemotherapy with ET may have transient elevations in the frequencies of aneuploid sperm, but more importantly, may have persistent elevations in the frequencies of sperm with chromosomal aberrations, placing them at higher risk for abnormal reproductive outcomes long after the end of their chemotherapy.

  8. Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH

    Coze Carole

    2006-01-01

    Full Text Available Abstract Background Pleuropulmonary blastoma (PPB is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour. Cases presentation We report pathological and cytogenetic findings in two cases of PPB at initial diagnosis and recurrence. Both tumors were classified as type III pneumoblastoma and histological findings were similar at diagnosis and relapse. In both cases, conventional cytogenetic techniques revealed complex numerical and structural chromosomal abnormalities. Molecular cytogenetic analysis (interphase/metaphase FISH and multicolor FISH identified accurately chromosomal aberrations. In one case, TP53 gene deletion was detected on metaphase FISH. To date, only few cytogenetic data have been published about PPB. Conclusion The PPB genetic profile remains to be established and compared to others embryonal neoplasia. Our cytogenetic data are discussed reviewing cytogenetics PPBs published cases, illustrating the contribution of multicolor FISH in order to identify pathogenetically important recurrent aberrations in PPB.

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

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

    2012-12-01

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

  10. Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia.

    Harrison, Christine J; Schwab, Claire

    2016-03-01

    In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21) (q10; q10)c, have ∼2,700 increased risk of developing ALL with iAMP21 (intrachromosomal amplification of chromosome 21). In these patients, chromosome 15 as well as chromosome 21 is involved in the formation of iAMP21, referred to here as der(21)(15;21). Individuals with constitutional ring chromosomes involving chromosome 21, r(21)c, are also predisposed to iAMP21-ALL, involving the same series of mutational processes as seen in sporadic- and der(21)(15;21)-iAMP21 ALL. Evidence is accumulating that the dicentric nature of the Robertsonian and ring chromosome is the initiating factor in the formation of the complex iAMP21 structure. Unravelling these intriguing predispositions to iAMP21-ALL may provide insight into how other complex rearrangements arise in cancer.

  11. 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.

  12. Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization

    Kwasny, Dorota; Vedarethinam, Indumathi; Shah, Pranjul

    2012-01-01

    Cytogenetic and molecular cytogenetic analyses, which aim to detect chromosome abnormalities, are routinely performed in cytogenetic laboratories all over the world. Traditional cytogenetic studies are performed by analyzing the banding pattern of chromosomes, and are complemented by molecular cy...

  13. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics

    Toth-Fejel, S.; Magenis, R.E.; Leff, S. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1995-02-13

    With improvements in culturing and banding techniques, amniotic fluid studies now achieve a level of resolution at which the Prader-Willi syndrome (PWS) and Angelman syndrome (AS) region may be questioned. Chromosome 15 heteromorphisms, detected with Q- and R-banding and used in conjunction with PWS/AS region-specific probes, can confirm a chromosome deletion and establish origin to predict the clinical outcome. We report four de novo cases of an abnormal-appearing chromosome 15 in amniotic fluid samples referred for advanced maternal age or a history of a previous chromosomally abnormal child. The chromosomes were characterized using G-, Q-, and R-banding, as well as isotopic and fluorescent in situ hybridization of DNA probes specific for the proximal chromosome 15 long arm. In two cases, one chromosome 15 homolog showed a consistent deletion of the ONCOR PWS/AS region A and B. In the other two cases, one of which involved an inversion with one breakpoint in the PWS/AS region, all of the proximal chromosome 15 long arm DNA probes used in the in situ hybridization were present on both homologs. Clinical follow-up was not available on these samples, as in all cases the parents chose to terminate the pregnancies. These cases demonstrate the ability to prenatally diagnose chromosome 15 abnormalities associated with PWS/AS. In addition, they highlight the need for a better understanding of this region for accurate prenatal diagnosis. 41 refs., 5 figs.

  14. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.

    Hartman, Robert J; Rasmussen, Sonja A; Botto, Lorenzo D; Riehle-Colarusso, Tiffany; Martin, Christa L; Cragan, Janet D; Shin, Mikyong; Correa, Adolfo

    2011-12-01

    We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further.

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

    Iman Salahshourifar

    2007-01-01

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

  16. Evidence of increased chromosomal abnormalities in French Polynesian thyroid cancer patients

    Violot, D.; M' kacher, R.; Dossou, J. [UPRES, Laboratory of Radiosensitivity and Radiocarcinogenesis (France); Adjadj, E.; Vathaire, F. de [INSERM, Laboratory of Cancer Epidemiology (France); Parmentier, C. [UPRES, Laboratory of Radiosensitivity and Radiocarcinogenesis (France); Institut Gustave Roussy, Department of Nuclear Medicine, Villejuif (France)

    2005-02-01

    The aim of this study was to evaluate the frequency of chromosomal abnormalities in thyroid cancer patients before and after radioactive iodine administration in order to assess cytogenetic particularity in Polynesian thyroid cancer patients. Chromosomal abnormalities were studied in 30 Polynesian patients with differentiated thyroid cancer, prior to and 4 days after{sup 131}I administration. Unstable chromosomal abnormalities were counted in peripheral blood lymphocytes using a conventional cytogenetic method. Peripheral blood was irradiated in vitro at different doses (0.5, 1 and 2 Gy) in order to establish the dose-response of the lymphocytes. Control groups were composed of 50 European thyroid cancer patients before and after first administration of{sup 131}I, and of ten European healthy donors. In addition, in vitro irradiation assays were performed at different doses (0.5, 1 and 2 Gy). The relative risk of spontaneous dicentrics before any radiation treatment was 2.9 (95% CI 1.7-5.1) times higher among Polynesian thyroid patients than among European thyroid cancer patients. After in vitro irradiation, the rise in frequency of dicentrics was similar in the Polynesian thyroid cancer group and the European thyroid patients and healthy donors. Four days after administration of 3.7 GBq{sup 131}I, the relative risk for a dicentric per cell was 1.3 (95% CI 1.0-1.5) times higher in Polynesian than in European patients. This can be explained by higher{sup 131}I retention in Polynesian compared with European patients. The results obtained revealed an increased frequency of cytogenetic abnormalities in Polynesian thyroid cancer patients compared with European control patients. These preliminary findings are compatible with possible previous environmental aggression and therefore imply a need for further investigations on larger series including, in particular, French Polynesian healthy donors. In addition to French Polynesians, Maori and Hawaiian control groups could be

  17. Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis

    叶英辉; 徐晨明; 金帆; 钱羽力

    2004-01-01

    Objective: Embryonic chromosomal abnormality is one of the main reasons for in vitro fertilization (IVF) failure. This study aimed at evaluating the value of Fluorescence in-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis (PGD) in screening for embryonic chromosomal abnormality to increase the successful rate of IVF. Method: Ten couples, four with high risk of chromosomal abnormality and six infertile couples, underwent FISH-based PGD during IVF procedure. At day 3, one or two blastomeres were aspirated from each embryo. Biopsied blastomeres were examined using FISH analysis to screen out embryos with chromosomal abnormalities. At day 4, embryos without detectable chromosomal abnormality were transferred to the mother bodies as in regular IVF. Results: Among 54 embryos screened using FISH-based PGD, 30 embryos were detected to have chromosomal abnormalities. The 24 healthy embryos were implanted, resulting in four clinical pregnancies, two of which led to successful normal birth of two healthy babies; one to ongoing pregnancy during the writing of this article; and one to ectopic pregnancy. Conclusion: FISH-based PGD is an effective method for detecting embryonic chromosomal abnormality, which is one of the common causes of spontaneous miscarriages and chromosomally unbalanced offsprings.

  18. Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis

    叶英辉; 徐晨明; 金帆; 钱羽力

    2004-01-01

    Objective: Embryonic chromosomal abnormality is one of the main reasons for in vitro fertilization (IVF)failure. This study aimed at evaluating the value of Fluorescence in-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis (PGD) in screening for embryonic chromosomal abnormality to increase the successful rate of IVF. Method:Ten couples, four with high risk of chromosomal abnormality and six infertile couples, underwent FISH-based PGD during IVF procedure. At day 3, one or two blastomeres were aspirated from each embryo. Biopsied blastomeres were examined using FISH analysis to screen out embryos with chromosomal abnormalities. At day 4, embryos without detectable chromosomal abnormality were transferred to the mother bodies as in regular IVF. Results: Among 54 embryos screened using FISH-based PGD, 30 embryos were detected to have chromosomal abnormalities. The 24 healthy embryos were implanted,resulting in four clinical pregnancies, two of which led to successful normal birth of two healthy babies; one to ongoing pregnancy during the writing of this article; and one to ectopic pregnancy. Conclusion: FISH-based PGD is an effective method for detecting embryonic chromosomal abnormality, which is one of the common causes of spontaneous miscarriages and chromosomally unbalanced offsprings.

  19. 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

  20. Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

    Etemadi

    2016-08-01

    Full Text Available Background Chromosomal aberrations are one of the most common causes of mental retardation (MR. Objectives In this study, in order to identify the rate of chromosomal abnormalities in idiopathic MR, 50 MR patients at a charity center in Hamadan, Iran, were investigated. Methods Fifty mentally retarded male patients without specific chromosomal abnormalities (e.g., Down syndrome, Fragile X syndrome, and Klinefelter syndrome were included in the study. Standard cytogenetic techniques and high resolution GTG banding were performed on all the patients. Results All the patients were male, with a mean age of 37.12 years. Skeletal and facial abnormalities were found in 8% and 22% of patients, respectively. All the patients showed a moderate to severe level of mental retardation. None of the patients had numerical chromosome abnormalities. Two out of the 50 patients (4% demonstrated structural chromosomal abnormalities. One patient had a paracentric inversion in chromosome 1, while the other had a pericentric inversion in chromosome 2. Conclusions The presence of structural chromosomal abnormalities (4% in the studied MR patient population emphasizes the importance of cytogenetic investigation for all idiopathic MR patients.

  1. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat-Thinopyrum intermedium

    The chromosome painting is an efficient tool for chromosome research. However, plant chromosome painting is relatively underdeveloped. In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat-Thinopyrum intermedium addition line, and chromosomes of...

  2. Chromosome abnormalities in Japanese Burkitt lymphoma cell lines.

    Hamasaki,Kazuhide

    1982-02-01

    Full Text Available Six established Japanese Burkitt lymphoma (BL cell lines including one case with null cell type were studied by chromosomal banding techniques. The modal chromosome number was diploid or nearly diploid in five cases and hyperdiploid in one case. The marker chromosome 14q+ was observed in four of the six cases; the origin of the extra band was a chromosome 8 in three including the null cell case but could not be identified in the other. The two cases lacking the 14q+ marker had variant translocations involving the long arm of chromosome 8, one of which carried a translocation, t(8;22 (q24;q13 and the other a translocation, t(2;8 (p12;q24. Although structural and/or numerical aberrations were found in all six cell lines, chromosome 8 was the one most consistently involved. This frequent involvement of chromosome 8 in aberrations; therefore, may be an important event in the development of BL rather than the presence of a 14q+ marker chromosome.

  3. Application of dual color fluorescence in situ hybridization (D—FISH) to the diagnosis of a 49,XXXXY chromosomal abnormality

    LiuYZ; ZengX

    2002-01-01

    Objective:To study the technique of D-FISH and its application in the diagnosis of a 49.XXXXY chromosomal abnormality.Methods:Biotin-labeled alpha satellite X chromosome DNA(pBamX7) probe and digoxi-genin-labeled Y chromosome long arm terminal repetitive sequence (pY3.4) probe in situ hybridized with pre-treated slides of peripheral blood chromosome and interphase nucleus.After washing,the slides were treated with avidin-FITC,rhodamine-FITC and anti-avidin,amplified with an additional layer and counter-stained with DAPI in an antifade solution.The hybridization signals and chromosomal or interphase nucleus settings were observed respectively with WIB,WIG and WU filters under fluorescent microscope (Olympus AX-70) and the number of metaphase chromosome and interphase nucleus in the peripheral blood was counted.Results:The biotin-labeled pBamX7 probe showed 4 green hybridization signal and the digoxigenin-labeled pY3.4 probe showed 1 red hybridization signal.The chromosome or cytoplasm counter-stained with DAPI showed blue.The positive rate of X chromosome hybridization signal for the 350 metaphase chromosomes and interphase nucleus was 91.43% and 92.57%,respectively,while that of the Y chromosome hybridization signal was 99.5% and 99.8%,respectively.Conclusion:D-FISH is a valuable technique in diagnosing 49,XXXXY chromosomal abnormality and other sex chromosomal abnormalities.

  4. Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999.

    Forrester, Mathias B; Merz, Ruth D

    2003-06-15

    Sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, triple X syndrome, and 47,XYY can be prenatally diagnosed and electively terminated. This investigation examined the pattern of pregnancy outcome of prenatally and postnatally diagnosed sex chromosome abnormalities in Hawaii during 1986-1999 and calculated prenatal diagnosis and subsequent elective termination rates for various factors. Data were obtained from a statewide population-based birth defects registry. The study included 205 detected sex chromosome abnormality cases of which 93 (45%) were live births, 18 (9%) late fetal deaths, 37 (18%) early fetal deaths, and 57 (28%) elective terminations. Pregnancy outcome distribution varied by type of sex chromosome abnormality. Prenatal diagnosis was reported for 132 (64%) of the cases, of which 46 (35%) were subsequently electively terminated. Eleven cases were elective terminations where the sex chromosome abnormality was diagnosed after delivery. Elective termination rates subsequent to prenatal diagnosis differed by sex chromosome abnormality, being highest for 45,X (54%), followed by 47,XXY (46%), 47,XYY (29%), and 47,XXX (17%). Although prenatal diagnosis rates increased significantly over the time period (P = 0.006), the subsequent elective termination rate declined slightly, albeit the trend was not statistically significant (P = 0.440). The prenatal diagnosis rate was highest for the 35-39-year maternal age group, although this age group did not have subsequent elective termination rates higher than other maternal age groups. Pregnancy outcome distribution and prenatal diagnosis and subsequent elective termination of sex chromosome abnormalities appeared to depend on the type of sex chromosome abnormality, year of delivery, and maternal age.

  5. Influence of different chromosomal abnormalities in Ph-positive bone marrow cells on the chronic myeloid leukemia course during tyrosine kinase inhibitors therapy

    O. Yu. Vinogradova

    2012-01-01

    Full Text Available The additional molecular and chromosomal abnormalities (ACA in Phositive cells usually considered as a genetic marker of chronic myeloid leukemia (CML progression. 457 patients in different CML phases received tyrosine kinase inhibitors (1st and 2nd generation were studied. During therapy 50 cases with additional chromosomal abnormalities in Ph+ clone (22 of them in chronic CML phase were revealed (median follow-up from CML diagnosis – 117 months, median imatinib therapy – 62 months. 86 % of patients in chronic phase with Ph+- cell abnormalities were cytogenetic resistance, and their 5-years overall survival was 80 % which was significantly lower than in patients without ACA (p < 0.005. The treatment results depend on chromosomal abnormalities detected. In patients with additional chromosome 8 imatinib therapy is effective, although complete cytogenetic response (CCR is achieved only in the later therapy stages. In patients with additional translocations CCR also achieved with imatinib or 2nd generation TKI. Only a third of patients with additional Ph-chromosome or BCR/ABL amplification achieved complete suppression of Ph+ clone using 2nd generation TKI. The presence of additional chromosomeabnormalities and complex karyotype disorders involving isochromosome i(17(q10 are poor prognostic factors of TKI treatment failures.

  6. Influence of different chromosomal abnormalities in Ph-positive bone marrow cells on the chronic myeloid leukemia course during tyrosine kinase inhibitors therapy

    O. Yu. Vinogradova

    2014-07-01

    Full Text Available The additional molecular and chromosomal abnormalities (ACA in Phositive cells usually considered as a genetic marker of chronic myeloid leukemia (CML progression. 457 patients in different CML phases received tyrosine kinase inhibitors (1st and 2nd generation were studied. During therapy 50 cases with additional chromosomal abnormalities in Ph+ clone (22 of them in chronic CML phase were revealed (median follow-up from CML diagnosis – 117 months, median imatinib therapy – 62 months. 86 % of patients in chronic phase with Ph+- cell abnormalities were cytogenetic resistance, and their 5-years overall survival was 80 % which was significantly lower than in patients without ACA (p < 0.005. The treatment results depend on chromosomal abnormalities detected. In patients with additional chromosome 8 imatinib therapy is effective, although complete cytogenetic response (CCR is achieved only in the later therapy stages. In patients with additional translocations CCR also achieved with imatinib or 2nd generation TKI. Only a third of patients with additional Ph-chromosome or BCR/ABL amplification achieved complete suppression of Ph+ clone using 2nd generation TKI. The presence of additional chromosomeabnormalities and complex karyotype disorders involving isochromosome i(17(q10 are poor prognostic factors of TKI treatment failures.

  7. Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities

    Hasle, H; Olsen, J H; Hansen, J;

    1998-01-01

    with constitutional abnormalities involving chromosome 7, including 16 patients with Williams syndrome. By linkage to the Danish Cancer Registry, we found five persons with cancer, including one thyroid carcinoma, three carcinomas of the digestive tract, and one malignant melanoma. There were no cases of leukemia......Cytogenetic abnormalities in human malignancies frequently involve chromosome 7. The existence of several tumor suppressor genes on the long arm of chromosome 7 has been suggested in both epithelial and hematologic malignancies. From the Danish Cytogenetic Register, we identified 183 persons...

  8. 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.

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

    Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

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

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

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

    2016-01-01

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

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

    Gioconda Manassero-Morales

    2016-01-01

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

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

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

    2009-09-01

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

  13. Chromosomal abnormalities in non-neoplastic renal tissue

    vandenBerg, E; Dijkhuizen, T; Storkel, S; Molenaar, WM; deJong, B

    1995-01-01

    Chromosome aberrations were studied in short-term cultures of non-neoplastic renal tissue and tumor tissue in 60 patients, 41 male and 19 female, with renal cell cancer (RCC), and in normal renal parenchyma from two cases, one male and one female, at autopsy with non-kidney related disease. Cytogene

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

    Marisavljević Dragomir

    2004-01-01

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

  15. Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications.

    Guo, K M; Wu, B; Wang, H B; Tian, R H

    2016-12-02

    Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support. Cytogenetic analysis was performed using cultured peripheral blood lymphocytes and G-banding. The detection rate of chromosomal abnormalities was 10.3% in pre-pregnancy counseled males, with polymorphisms being most common, followed by 47,XXY and balanced translocation. Follow-up of 170 carriers with normozoospermia, after 3 years, showed that 94.7% of the cases resulted in live births. In the carriers of polymorphisms, balanced translocation, inv(9), Robertsonian translocation, inversion, and 47,XYY, live birth rates were 96.8, 85.7, 100, 83.3, 75, and 100%, respectively. Follow-up of 54 carriers with oligozoospermia or azoospermia, after 3 years, showed that 14.8% of the cases resulted in live births. In the carriers of 47,XXY with severe oligozoospermia or azoospermia, 80 or 5.9% of the cases resulted in live births, respectively. Therefore, timely psychological support would be beneficial and multidisciplinary approach should be preferentially considered for the management of individuals with chromosomal abnormalities.

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

    Lorna González Herrera

    2014-02-01

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

  17. 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).

  18. Increased sex chromosome expression and epigenetic abnormalities in spermatids from male mice with Y chromosome deletions.

    Reynard, Louise N; Turner, James M A

    2009-11-15

    During male meiosis, the X and Y chromosomes are transcriptionally silenced, a process termed meiotic sex chromosome inactivation (MSCI). Recent studies have shown that the sex chromosomes remain substantially transcriptionally repressed after meiosis in round spermatids, but the mechanisms involved in this later repression are poorly understood. Mice with deletions of the Y chromosome long arm (MSYq-) have increased spermatid expression of multicopy X and Y genes, and so represent a model for studying post-meiotic sex chromosome repression. Here, we show that the increase in sex chromosome transcription in spermatids from MSYq- mice affects not only multicopy but also single-copy XY genes, as well as an X-linked reporter gene. This increase in transcription is accompanied by specific changes in the sex chromosome histone code, including almost complete loss of H4K8Ac and reduction of H3K9me3 and CBX1. Together, these data show that an MSYq gene regulates sex chromosome gene expression as well as chromatin remodelling in spermatids.

  19. [Lived experience of women with fetal chromosomal abnormality receiving termination at second trimester].

    Hsu, Chin-Mei; Su, Tsann-Juu; Chen, Yueh-Chih; Hwang, Jiann-Lonng

    2007-12-01

    Fetal chromosomal examination helps screen fetal chromosomal abnormalities prenatally. Diagnosis of such anomalies allows pregnancy termination, but causes tremendous trauma during pregnancy. The purpose of this study was to explore the lived experience of women suffering from fetal chromosomal abnormalities who are urgently required to terminate their pregnancy. The qualitative field study was conducted at a medical center in Taipei. The researcher, a primary nurse, conducted interviews with five women face to face or over the phone to collect the data. The period of care lasted for two weeks, beginning with confirmed diagnosis of fetal chromosomal abnormalities, followed by the subjects' decision on pregnancy termination, and ending up with their discharge from the hospital. The study is presented in narrative form and the data analyzed using interpretive research strategies of phenomenology. Three categories of lived experience emerged from the data: (1) recurring nightmares, (2) the torment from making the decision of pregnancy termination, and (3) frustration or sadness afterwards. The results illustrated that the lived experience of the women suffering from fetal chromosomal abnormalities and receiving termination was a continuous process. We suggest that medical staff concern themselves with the issue and provide humanistic caring for patients during the various different phases.

  20. Hypoxia-induced reactive oxygen species cause chromosomal abnormalities in endothelial cells in the tumor microenvironment.

    Miyako Kondoh

    Full Text Available There is much evidence that hypoxia in the tumor microenvironment enhances tumor progression. In an earlier study, we reported abnormal phenotypes of tumor-associated endothelial cells such as those resistant to chemotherapy and chromosomal instability. Here we investigated the role of hypoxia in the acquisition of chromosomal abnormalities in endothelial cells. Tumor-associated endothelial cells isolated from human tumor xenografts showed chromosomal abnormalities, >30% of which were aneuploidy. Aneuploidy of the tumor-associated endothelial cells was also shown by simultaneous in-situ hybridization for chromosome 17 and by immunohistochemistry with anti-CD31 antibody for endothelial staining. The aneuploid cells were surrounded by a pimonidazole-positive area, indicating hypoxia. Human microvascular endothelial cells expressed hypoxia-inducible factor 1 and vascular endothelial growth factor A in response to either hypoxia or hypoxia-reoxygenation, and in these conditions, they acquired aneuploidy in 7 days. Induction of aneuploidy was inhibited by either inhibition of vascular endothelial growth factor signaling with vascular endothelial growth factor receptor 2 inhibitor or by inhibition of reactive oxygen species by N-acetyl-L-cysteine. These results indicate that hypoxia induces chromosomal abnormalities in endothelial cells through the induction of reactive oxygen species and excess signaling of vascular endothelial growth factor in the tumor microenvironment.

  1. Hypoxia-Induced Reactive Oxygen Species Cause Chromosomal Abnormalities in Endothelial Cells in the Tumor Microenvironment

    Hida, Yasuhiro; Maishi, Nako; Towfik, Alam Mohammad; Inoue, Nobuo; Shindoh, Masanobu; Hida, Kyoko

    2013-01-01

    There is much evidence that hypoxia in the tumor microenvironment enhances tumor progression. In an earlier study, we reported abnormal phenotypes of tumor-associated endothelial cells such as those resistant to chemotherapy and chromosomal instability. Here we investigated the role of hypoxia in the acquisition of chromosomal abnormalities in endothelial cells. Tumor-associated endothelial cells isolated from human tumor xenografts showed chromosomal abnormalities, >30% of which were aneuploidy. Aneuploidy of the tumor-associated endothelial cells was also shown by simultaneous in-situ hybridization for chromosome 17 and by immunohistochemistry with anti-CD31 antibody for endothelial staining. The aneuploid cells were surrounded by a pimonidazole-positive area, indicating hypoxia. Human microvascular endothelial cells expressed hypoxia-inducible factor 1 and vascular endothelial growth factor A in response to either hypoxia or hypoxia-reoxygenation, and in these conditions, they acquired aneuploidy in 7 days. Induction of aneuploidy was inhibited by either inhibition of vascular endothelial growth factor signaling with vascular endothelial growth factor receptor 2 inhibitor or by inhibition of reactive oxygen species by N-acetyl-L-cysteine. These results indicate that hypoxia induces chromosomal abnormalities in endothelial cells through the induction of reactive oxygen species and excess signaling of vascular endothelial growth factor in the tumor microenvironment. PMID:24260373

  2. Further evidence for a non-random chromosomal abnormality in acute promyelocytic leukemia

    Rowley, J.D.; Golomb, H.M.; Vardiman, J.; Fukahara, S.; Dougherty, C.; Potter, D.

    1977-01-01

    We have previously reported on two patients with acute promyelocytic leukemia (APL) who had what appeared to be a deletion of chromosome No. 17. We now describe a third patient with APL. All three patients had a structural rearrangement involving No. 15 and No. 17. Our current interpretation of the chromosomal abnormality is that it is a reciprocal translocation, t (15; 17) (q22; q21). Evidence that this is a consistent rearrangement associated with APL comes not only from our three patients, but also from two other published cases of APL, studied with banding, who also had an identical abnormality.

  3. Method of detecting genetic deletions identified with chromosomal abnormalities

    Gray, Joe W; Pinkel, Daniel; Tkachuk, Douglas

    2013-11-26

    Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyzes. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acids probes are typically of a complexity greater tha 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particlularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML) and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar ut genetically different diseases, and for many prognostic and diagnostic applications.

  4. Method of detecting genetic translocations identified with chromosomal abnormalities

    Gray, Joe W. (Livermore, CA); Pinkel, Daniel (Walnut Creek, CA); Tkachuk, Douglas (Livermore, CA)

    2001-01-01

    Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML) and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar but genetically different diseases, and for many prognostic and diagnostic applications.

  5. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

    Frenny J Sheth

    2013-01-01

    Full Text Available Background: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages. Purpose: The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes. Materials and Methods: A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G-banding and fluorescence in situ hybridization wherever necessary. Results: Chromosomal rearrangements were found in 170 individuals (3.5%. Translocations were seen in 72 (42.35% cases. Of these, reciprocal translocations constituted 42 (24.70% cases while Robertsonian translocations were detected in 30 (17.64% cases. 7 (4.11% cases were mosaic, 8 (4.70% had small supernumerary marker chromosomes and 1 (0.6% had an interstitial microdeletion. Nearly, 78 (1.61% cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70% and chromosome 9 pericentromeric variants (32.05% were predominantly involved. Conclusions: Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.

  6. Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia

    Garcia Daniela

    2009-02-01

    Full Text Available Abstract Background Children with Down syndrome (DS have an increased risk of childhood acute leukemia, especially acute megakaryoblastic leukemia (AMKL also called acute myeloid leukemia (AML type M7. Here four yet unreported infants with such malignancies are reported. Results An unbalanced translocation involving chromosome 1 was identified by GTG banding in all cases. These were characterized in more detail by molecular cytogenetic approaches. Additional molecular analysis revealed in three of the four cases mutations in exon 2 of the GATA binding protein 1 (globin transcription factor 1, located in Xp11.23. Conclusion Our results corroborate that abnormalities of chromosome 1 are common in DS-associated AMKL. Whether this chromosomal region contains gene(s involved in hematopoietic malignant transformation remains to be determined.

  7. Characterization of the temporal persistence of chromosomal abnormalities in the semen of Hodkin`s disease patients after treatment with NOVP chemotherapy using multi-chromosome fluorescence in situ hybridization

    Cassel, M.J.; Robbins, W.A.; Wyrobek, A.J. [Lawrence Livermore National Laboratory, CA (United States); Meistrich, M.L. [Univ. of Texas, Houston, TX (United States)

    1994-12-31

    Three-chromosome fluorescence in situ hybridization (FISH) was applied to sperm of men with Hodgkin`s disease to measure the persistence of chromosomally abnormal sperm within the time interval of 3 to 33 months after the end of treatment. NOVP chemotherapy includes the agents novantrone, oncovin, vinblastine, and prednisone, two of which are spindle poisons expected to induce aneuploidy. Semen samples were evaluated for the frequencies of fluorescence phenotypes representing hyperhaploidy, hypohaploidy, and genomic duplications using DNA probes specific for repetitive sequences on chromosomes X,Y, and 8. Using this procedure, NOVP was previously shown to induce chromosomally abnormal sperm in treated patients. In a longitudinal assessment of 11 semen samples from 2 men, frequencies of abnormal sperm appeared to return to pre-treatment levels at {approximately}6 months after the end of treatment and remained at these levels up to 33 months after the end of treatment. However, pre-treatment frequencies of chromosomally abnormal cells in Hodgkin`s patients were elevated above those found in normal healthy men. Additional patients are being evaluated to determine how long after therapy Hodgkin`s disease patients remain at increased risk for producing chromosomally abnormal sperm.

  8. Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

    Talkowski, Michael E.; Rosenfeld, Jill A.; Blumenthal, Ian

    2012-01-01

    Sequencing of balanced chromosomal abnormalities, combined with convergent genomic studies of gene expression, copy-number variation, and genome-wide association, identifies 22 new loci that contribute to autism and related neurodevelopmental disorders. These data support a polygenic risk model f...

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

    Faeza El-Dahtory

    2012-01-01

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

  10. 1ST-TRIMESTER SCREENING FOR FETAL CHROMOSOMAL-ABNORMALITIES - PRELIMINARY-RESULTS

    VANLITH, JMM

    1991-01-01

    We have started a multicentre trial to study the possibilities of first-trimester maternal serum screening for fetal chromosomal abnormalities. Maternal blood samples were obtained before 13 weeks of gestation. We present the preliminary results of the first 950 patients on alpha-fetoprotein (AFP).

  11. Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia.

    Blackwood, D H R; Thiagarajah, T; Malloy, P; Pickard, B S; Muir, W J

    2008-10-01

    Genetic factors contribute to schizophrenia and bipolar disorder, and linkage and association studies have been successful in identifying several candidate genes. However these genes explain only a very small part of the total population risk and the psychoses appear to be very heterogeneous with several models of genetic inheritance relevant to different groups of patients, including some cases caused by multiple common genetic variants, while others are single gene disorders. Studying chromosomal abnormalities is a useful strategy for identifying genes in illness, and patients with both mental retardation and psychosis form a special group where large chromosomal abnormalities detected by routine cytogenetic analysis are more prevalent than in patients with schizophrenia or bipolar disorder alone, or in the general population. Studying these patients provides valuable opportunities to identify genes contributing to psychoses. This review of the literature on large chromosomal rearrangements in patients with mental retardation and psychotic illness illustrates how schizophrenia and bipolar phenotypes are associated with a large number of different chromosomal disruptions. Recent genome wide association studies have identified an excess of small chromosomal deletions and duplications in schizophrenia, adding further support to the importance of chromosomal structural variation in psychotic illness. The genes GRIK4 and NPAS3, each associated with psychosis in patients with mental retardation are discussed to illustrate the value of rare cytogenetic events as a means to signpost neurobiological pathways of general importance for illness in the wider population.

  12. Health-related quality of life experienced by children with chromosomal abnormalities and congenital heart defects.

    Garcia Guerra, Gonzalo; Joffe, Ari R; Robertson, Charlene M T; Atallah, Joseph; Alton, Gwen; Sauve, Reg S; Dinu, Irina A; Ross, David B; Rebeyka, Ivan M

    2014-03-01

    Long-term outcomes are fundamental in advising parents about the potential future of their children with congenital heart disease (CHD). No published reports have described the health-related quality of life (HRQL) experienced by children with chromosomal abnormalities who had surgery in early infancy for CHD. A study was undertaken to assess HRQL among children with chromosomal abnormalities and CHD. The authors hypothesized that these children have a worse HRQL than healthy children or a cohort of children matched for CHD diagnosis. Infants with chromosomal abnormalities undergoing cardiac surgery for CHD at 6 weeks of age or younger at the Stollery Children's Hospital between July 2000 and June 2005 were included in the study. The HRQL of these infants was assessed using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales completed by their parents at a 4-year follow-up evaluation. The study compared the scores for 16 children with normative data. The children with chromosomal abnormalities and CHD had significantly lower mean total PedsQL (71.3 vs. 87.3; p < 0.0001), Psychosocial Summary (70.3 vs. 86.1; p < 0.0001), and Physical Summary (74.3 vs. 89.2; p = 0.0006) scores. Compared with the matched children, those with chromosomal abnormalities had a significantly lower median total PedsQL (75.0 vs. 84.6; p = 0.03), Physical Summary (79.5 vs. 96.9; p = 0.007), and School Functioning (68.5 vs. 83.0; p = 0.03) scores. A better understanding of the mechanisms and determinants of HRQL in these children has the potential to yield important implications for clinical practice including clarity for treatment decision making as well as determination of targeted supports and services to meet the needs of these children and their families differentially.

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

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

    2006-01-01

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

  14. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult

    Papenhausen, P.R.; Mueller, O.T.; Sutcliffe, M.; Diamond, T.M.; Kousseff, B.G. [Univ. of South Florida College of Medicine, Tampa, FL (United States); Johnson, V.P. [Univ. of South Dakota, Sioux Falls, SD (United States)

    1995-11-20

    Uniparental disomy (UPD) of a number of different chromosomes has been found in association with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14 translocation. The baby was born prematurely with hairy forehead, retrognathia, mild puckering of the lips and finger contractures. Hypotonia has persisted since birth and at age one year, a tracheostomy for laryngomalacia and gastrostomy for feeding remain necessary. Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes at D14S22 and D14S13 loci indicated paternal uniparental isodisomy (pUPID). Parental chromosomes were normal. We also report on a case of maternal LTPD in a normal patient with a balanced Robertsonian 14:14 translocation and a history of multiple miscarriages. Five previous reports of chromosome 14 UPD suggest that an adverse developmental effect may be more severe whenever the UPD is paternal in origin. This is the second reported patient with paternal UPD and the fifth reported with maternal UPD, and only few phenotypic similarities are apparent. Examination of these chromosome 14 UPD cases of maternal and paternal origin suggests that there are syndromic imprinting effects. 30 refs., 3 figs.

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

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

    2001-10-01

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

  16. A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow

    Burak Durmaz

    2010-12-01

    Full Text Available We report herein a very rare case of acute lymphoblastic leukemia having a chromosomal constitution of 48,XY,+X,+5,t(9;22(q34;q11 in the bone marrow. A patient with additional chromosomes X and 5 with a Philadelphia chromosome has not been reported previously. However, no abnormal karyotype was obtained from the lymphocytes in our patient, and he did not have the characteristics of Klinefelter syndrome. He achieved a complete remission with IDA-FLAG and dasatinib therapy. The mechanism of trisomy 5 or any other chromosomal aneuploidy in the pathogenesis of leukemogenesis remains unclear. Further studies involving the genes affected by this karyotype and their products may lead to strategies to further increase the understanding of drug-resistant acute lymphoblastic leukemia and may represent the next frontier in the targeted therapy of those patients.

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

    Amy L. Shackelford

    2013-01-01

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

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

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

    2013-01-01

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

  19. Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

    Thomas George H

    2006-01-01

    Full Text Available Abstract Background A variety of diseases are caused by chromosomal abnormalities such as aneuploidies (having an abnormal number of chromosomes, microdeletions, microduplications, and uniparental disomy. High density single nucleotide polymorphism (SNP microarrays provide information on chromosomal copy number changes, as well as genotype (heterozygosity and homozygosity. SNP array studies generate multiple types of data for each SNP site, some with more than 100,000 SNPs represented on each array. The identification of different classes of anomalies within SNP data has been challenging. Results We have developed SNPscan, a web-accessible tool to analyze and visualize high density SNP data. It enables researchers (1 to visually and quantitatively assess the quality of user-generated SNP data relative to a benchmark data set derived from a control population, (2 to display SNP intensity and allelic call data in order to detect chromosomal copy number anomalies (duplications and deletions, (3 to display uniparental isodisomy based on loss of heterozygosity (LOH across genomic regions, (4 to compare paired samples (e.g. tumor and normal, and (5 to generate a file type for viewing SNP data in the University of California, Santa Cruz (UCSC Human Genome Browser. SNPscan accepts data exported from Affymetrix Copy Number Analysis Tool as its input. We validated SNPscan using data generated from patients with known deletions, duplications, and uniparental disomy. We also inspected previously generated SNP data from 90 apparently normal individuals from the Centre d'Étude du Polymorphisme Humain (CEPH collection, and identified three cases of uniparental isodisomy, four females having an apparently mosaic X chromosome, two mislabelled SNP data sets, and one microdeletion on chromosome 2 with mosaicism from an apparently normal female. These previously unrecognized abnormalities were all detected using SNPscan. The microdeletion was independently

  20. Amenorréia e anormalidades do cromossomo X Amenorrhea and X chromosome abnormalities

    Rafael Fabiano Machado Rosa

    2008-10-01

    clinical and laboratorial findings of patients with amenorrhea and abnormalities of X chromosome, attended between January 1975 and November 2007 was performed. Their anthropometric measures were evaluated through standard growth tables, and, when present, minor and major anomalies were noted. The chromosomal study was performed through the GTG banded karyotype. RESULTS: from the total of 141 patients with amenorrhea, 16% presented numerical and 13% structural abnormalities of X chromosome. From these patients with X chromosome abnormalities (n=41, 35 had a complete clinical description. All presented hypergonadotrophic hypogonadism. Primary amenorrhea was observed in 24 patients, 91.7% of them with a Turner syndrome phenotype. Despite a case with Xq22-q28 deletion, all patients with this phenotype presented alterations involving Xp (one case with an additional cell lineage 46,XY. The two remaining patients with only primary amenorrhea had proximal deletions of Xq. Among the 11 patients with secondary amenorrhea, 54.5% presented a Turner phenotype (all with isolated or mosaic X chromosome monosomy. Patients with phenotype of isolated ovarian failure had only Xq deletions and X trisomy. CONCLUSIONS: the cytogenetic analysis must always be performed in women with ovarian failure of unknown cause, even in the absence of clinical dysmorphic features. This analysis is also extremely relevant in syndromic patients, because it can either confirm the diagnosis or identify patients in risk, like the cases involving a 46,XY lineage.

  1. Chromosome Abnormalities

    ... are two kinds of cell division, mitosis and meiosis. Mitosis results in two cells that are duplicates ... make up our body are made and replaced. Meiosis results in cells with half the number of ...

  2. Transmission of clonal chromosomal abnormalities in human hematopoietic stem and progenitor cells surviving radiation exposure

    Kraft, Daniela, E-mail: d.kraft@gsi.de [GSI Helmholtz Center for Heavy Ion Research, Department of Biophysics, Planckstr. 1, 64291 Darmstadt (Germany); Institute for Transfusion Medicine und Immunohematology, DRK-Blutspendedienst Baden-Wuerttemberg—Hessen, Johann Wolfgang Goethe-University Hospital, Sandhofstrasse 1, 60528 Frankfurt (Germany); Ritter, Sylvia, E-mail: s.ritter@gsi.de [GSI Helmholtz Center for Heavy Ion Research, Department of Biophysics, Planckstr. 1, 64291 Darmstadt (Germany); Durante, Marco, E-mail: m.durante@gsi.de [GSI Helmholtz Center for Heavy Ion Research, Department of Biophysics, Planckstr. 1, 64291 Darmstadt (Germany); Institute for Condensed Matter Physics, Physics Department, Technical University Darmstadt, Hochschulstraße 6-8, 64289 Darmstadt (Germany); Seifried, Erhard, E-mail: e.seifried@blutspende.de [Institute for Transfusion Medicine und Immunohematology, DRK-Blutspendedienst Baden-Wuerttemberg—Hessen, Johann Wolfgang Goethe-University Hospital, Sandhofstrasse 1, 60528 Frankfurt (Germany); Fournier, Claudia, E-mail: c.fournier@gsi.de [GSI Helmholtz Center for Heavy Ion Research, Department of Biophysics, Planckstr. 1, 64291 Darmstadt (Germany); Tonn, Torsten, E-mail: t.tonn@blutspende.de [Institute for Transfusion Medicine und Immunohematology, DRK-Blutspendedienst Baden-Wuerttemberg—Hessen, Johann Wolfgang Goethe-University Hospital, Sandhofstrasse 1, 60528 Frankfurt (Germany); Technische Universität Dresden, Med. Fakultät Carl Gustav Carus, Institute for Transfusion Medicine Dresden, German Red Cross Blood Donation Service North-East, Blasewitzer Straße 68/70, 01307 Dresden (Germany)

    2015-07-15

    Highlights: • Radiation induced formation and transmission of chromosomal aberrations were assessed. • Cytogenetic analysis was performed in human CD34+ HSPC by mFISH. • We report transmission of stable aberrations in irradiated, clonally expanded HSPC. • Unstable aberrations in clonally expanded HSPC occur independently of irradiation. • Carbon ions and X-rays bear a similar risk for propagation of cytogenetic changes. - Abstract: In radiation-induced acute myeloid leukemia (rAML), clonal chromosomal abnormalities are often observed in bone marrow cells of patients, suggesting that their formation is crucial in the development of the disease. Since rAML is considered to originate from hematopoietic stem and progenitor cells (HSPC), we investigated the frequency and spectrum of radiation-induced chromosomal abnormalities in human CD34{sup +} cells. We then measured stable chromosomal abnormalities, a possible biomarker of leukemia risk, in clonally expanded cell populations which were grown for 14 days in a 3D-matrix (CFU-assay). We compared two radiation qualities used in radiotherapy, sparsely ionizing X-rays and densely ionizing carbon ions (29 and 60–85 keV/μm, doses between 0.5 and 4 Gy). Only a negligible number of de novo arising, unstable aberrations (≤0.05 aberrations/cell, 97% breaks) were measured in the descendants of irradiated HSPC. However, stable aberrations were detected in colonies formed by irradiated HSPC. All cells of the affected colonies exhibited one or more identical aberrations, indicating their clonal origin. The majority of the clonal rearrangements (92%) were simple exchanges such as translocations (77%) and pericentric inversions (15%), which are known to contribute to the development of rAML. Carbon ions were more efficient in inducing cell killing (maximum of ∼30–35% apoptotic cells for 2 Gy carbon ions compared to ∼25% for X-rays) and chromosomal aberrations in the first cell-cycle after exposure (∼70% and

  3. Chromosomal abnormalities in roots of aquatic plant Elodea canadensis as a tool for testing genotoxicity of bottom sediments.

    Zotina, Tatiana; Medvedeva, Marina; Trofimova, Elena; Alexandrova, Yuliyana; Dementyev, Dmitry; Bolsunovsky, Alexander

    2015-12-01

    Submersed freshwater macrophytes are considered as relevant indicators for use in bulk bottom sediment contact tests. The purpose of this study was to estimate the validity of endpoints of aquatic plant Elodea canadensis for laboratory genotoxicity testing of natural bottom sediments. The inherent level of chromosome abnormalities (on artificial sediments) in roots of E. canadensis under laboratory conditions was lower than the percentage of abnormal cells in bulk sediments from the Yenisei River. The percentage of abnormal cells in roots of E. canadensis was more sensitive to the presence of genotoxic agents in laboratory contact tests than in the natural population of the plant. The spectra of chromosomal abnormalities that occur in roots of E. canadensis under natural conditions in the Yenisei River and in laboratory contact tests on the bulk bottom sediments from the Yenisei River were similar. Hence, chromosome abnormalities in roots of E. canadensis can be used as a relevant and sensitive genotoxicity endpoint in bottom sediment-contact tests.

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

    Jean Calleja-Agius

    2012-01-01

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

  5. Chromosome aberrations, micronucleus and sperm head abnormalities in mice treated with natamycin, [corrected] a food preservative.

    Rasgele, Pinar Goc; Kaymak, Fisun

    2010-03-01

    Natamycin [corrected] is used as preservative in foods. The genotoxic effects of the food preservative natamycin [corrected] were evaluated using chromosome aberrations and micronucleus test in bone marrow cells and sperm head abnormality assays in mice. Blood samples were taken from mice and levels of total testosterone in serum were also determined. Natamycin [corrected] was intraperitoneally (ip) injected at 200, 400 and 800 mg/kg. Natamycin [corrected] did not induce chromosome aberrations but significantly increased the number of micronucleated polychromatic erythrocytes in bone marrow and sperm head abnormalities at all concentrations and treatment periods. It also decreased MI at all concentrations for 6, 12 and 24h treatment periods. Natamycin [corrected] decreased PCE/NCE ratio at all concentrations for 48h in female mice, for 24 and 48h treatment periods in male mice. At the 800 mg/kg concentration, natamycin [corrected] decreased PCE/NCE ratio for 24 and 72h in female mice. A dose dependent increase was observed in the percentage of sperm head abnormalities. The levels of serum testosterone decreased dose-dependently. The obtained results indicate that natamycin [corrected] is not clastogenic, but it is aneugenic in mice bone marrow and it is a potential germ cell mutagen in sperm cells.

  6. Investigation of chromosome abnormalities and early embryonic mortality in goose lines.

    Liptói, Krisztina; Hidas, A; Rouvier, R

    2005-01-01

    Early embryonic mortality and chromosome abnormalities were studied in three goose lines: Grey Landes (line 7), White Polish (line 4) and their synthetic line (line 9). Eggs laid at the beginning, in the middle and at the end of the laying season were set. At candling at 5th day after egg set, all eggs (2847) were examined and those showing no normal embryonic development were opened 2847. Dead embryos were classified phenotypically and karyotyped. The mean ratio of embryonic mortality (EM) among fertile eggs was 9.4%, 5.2%, 7.3% in the lines 4, 7 and 9, respectively. The mean ratio of embryos with chromosomal abnormalities (CA) among the dead embryos was 8.0%, 14.8% and 13.1% in the lines 4, 7 and 9, respectively. Gander effect and layer within gander effect on embryo mortality were significant, indicating genetic factors. Father and mother of the layer effects were also significant, showing family effects. Animals producing dead embryos and embryos with chromosome abnormalities in high proportion were selected. In the selected groups the mean EM was 17.7-22.9%, and the mean CA was 11.7-34.7% among the three lines. The repetition of CA was not observed in the reproductive season of following year, while animals repeated the high EM (repeatability coefficient of 0.54). This shows that some part of EM may be resulted from other genetic factors. Ganders and layers progeny of these selected animals showed also high EM. It was concluded that culling pairs giving high EM value in their embryos could increase the average level of embryo viability and that the study of genetic determinism of that trait should be continued in geese.

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

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

    2007-02-01

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

  8. Additional extrarenal abnormalities seen in Tc-99m DTPA renal flow study

    Shih, Wei-Jen; Riley, C.; Domstad, P.A.; Pulmano, C.

    1988-04-01

    During /sup 99m/Tc-DTPA renal flow studies, extrarenal abnormalities have been found to include aortic abnormalities (aneurysm, ectasia, thrombosis, and abruptly decreased flow), splenic abnormalities (enlarged, small, or absent spleen), hepatic arterialization, and very slow circulation. In addition to the above abnormal findings, we add three more extrarenal pathologies that may be concomitantly found with renal flow study : pleural effusion(s), malignancy of the abdomen, and anemia and/or skeletal metastases.

  9. The Meiotic Behavior of an Alien Chromosome in Triticum aestivum-Haynaldia villosa Monosomic Addition Lines

    LI Rui-fen; LIANG Hong-xia; ZHAO Mao-lin

    2002-01-01

    By the combination of cytological analysis and using genomic in situ hybridization technique to identify an alien chromosome in wheat-Haynaldia villosa monosomic addition lines, we studied the meiotic behavior of the alien chromosome. The results indicated that the frequency of bivalent pairing was lower than the value expected in PMCs of two monosomic addition lines, the frequency of wheat chromosomes unpairing increased, and the wheat homologous chromosome pairing was interfered with by the added chromosome 6V at metaphase I. The chromosome 6V lagged in 20.3% -29.3% of PMCs, sister chromatids 6V early divided in 29.0% - 34.1% of PMCs, the single chromosome 6V in 18.2% - 26.1% of PMCs went to a pole randomly,the breakage frequency of chromosome 6V was 1.2% - 2.9%. Meanwhile, it was also found that several wheat chromosomes showed earlier division, lagging and breakage in a few PMCs. It revealed that the added chromosome 6V influenced the behavior of wheat chromosomes at anaphase. It was also found that the translocation was produced between 6V and wheat chromosomes in 1.2% of PMCs. It offered evidence for translocation between wheat and Haynaldia villosa 6V chromosomes.

  10. A dominantly acting murine allele of Mcm4 causes chromosomal abnormalities and promotes tumorigenesis.

    Bagley, Bruce N; Keane, Thomas M; Maklakova, Vilena I; Marshall, Jonathon G; Lester, Rachael A; Cancel, Michelle M; Paulsen, Alex R; Bendzick, Laura E; Been, Raha A; Kogan, Scott C; Cormier, Robert T; Kendziorski, Christina; Adams, David J; Collier, Lara S

    2012-01-01

    Here we report the isolation of a murine model for heritable T cell lymphoblastic leukemia/lymphoma (T-ALL) called Spontaneous dominant leukemia (Sdl). Sdl heterozygous mice develop disease with a short latency and high penetrance, while mice homozygous for the mutation die early during embryonic development. Sdl mice exhibit an increase in the frequency of micronucleated reticulocytes, and T-ALLs from Sdl mice harbor small amplifications and deletions, including activating deletions at the Notch1 locus. Using exome sequencing it was determined that Sdl mice harbor a spontaneously acquired mutation in Mcm4 (Mcm4(D573H)). MCM4 is part of the heterohexameric complex of MCM2-7 that is important for licensing of DNA origins prior to S phase and also serves as the core of the replicative helicase that unwinds DNA at replication forks. Previous studies in murine models have discovered that genetic reductions of MCM complex levels promote tumor formation by causing genomic instability. However, Sdl mice possess normal levels of Mcms, and there is no evidence for loss-of-heterozygosity at the Mcm4 locus in Sdl leukemias. Studies in Saccharomyces cerevisiae indicate that the Sdl mutation produces a biologically inactive helicase. Together, these data support a model in which chromosomal abnormalities in Sdl mice result from the ability of MCM4(D573H) to incorporate into MCM complexes and render them inactive. Our studies indicate that dominantly acting alleles of MCMs can be compatible with viability but have dramatic oncogenic consequences by causing chromosomal abnormalities.

  11. A dominantly acting murine allele of Mcm4 causes chromosomal abnormalities and promotes tumorigenesis.

    Bruce N Bagley

    Full Text Available Here we report the isolation of a murine model for heritable T cell lymphoblastic leukemia/lymphoma (T-ALL called Spontaneous dominant leukemia (Sdl. Sdl heterozygous mice develop disease with a short latency and high penetrance, while mice homozygous for the mutation die early during embryonic development. Sdl mice exhibit an increase in the frequency of micronucleated reticulocytes, and T-ALLs from Sdl mice harbor small amplifications and deletions, including activating deletions at the Notch1 locus. Using exome sequencing it was determined that Sdl mice harbor a spontaneously acquired mutation in Mcm4 (Mcm4(D573H. MCM4 is part of the heterohexameric complex of MCM2-7 that is important for licensing of DNA origins prior to S phase and also serves as the core of the replicative helicase that unwinds DNA at replication forks. Previous studies in murine models have discovered that genetic reductions of MCM complex levels promote tumor formation by causing genomic instability. However, Sdl mice possess normal levels of Mcms, and there is no evidence for loss-of-heterozygosity at the Mcm4 locus in Sdl leukemias. Studies in Saccharomyces cerevisiae indicate that the Sdl mutation produces a biologically inactive helicase. Together, these data support a model in which chromosomal abnormalities in Sdl mice result from the ability of MCM4(D573H to incorporate into MCM complexes and render them inactive. Our studies indicate that dominantly acting alleles of MCMs can be compatible with viability but have dramatic oncogenic consequences by causing chromosomal abnormalities.

  12. Abnormal X : autosome ratio, but normal X chromosome inactivation in human triploid cultures

    Norwood Thomas H

    2006-07-01

    Full Text Available Abstract Background X chromosome inactivation (XCI is that aspect of mammalian dosage compensation that brings about equivalence of X-linked gene expression between females and males by inactivating one of the two X chromosomes (Xi in normal female cells, leaving them with a single active X (Xa as in male cells. In cells with more than two X's, but a diploid autosomal complement, all X's but one, Xa, are inactivated. This phenomenon is commonly thought to suggest 1 that normal development requires a ratio of one Xa per diploid autosomal set, and 2 that an early event in XCI is the marking of one X to be active, with remaining X's becoming inactivated by default. Results Triploids provide a test of these ideas because the ratio of one Xa per diploid autosomal set cannot be achieved, yet this abnormal ratio should not necessarily affect the one-Xa choice mechanism for XCI. Previous studies of XCI patterns in murine triploids support the single-Xa model, but human triploids mostly have two-Xa cells, whether they are XXX or XXY. The XCI patterns we observe in fibroblast cultures from different XXX human triploids suggest that the two-Xa pattern of XCI is selected for, and may have resulted from rare segregation errors or Xi reactivation. Conclusion The initial X inactivation pattern in human triploids, therefore, is likely to resemble the pattern that predominates in murine triploids, i.e., a single Xa, with the remaining X's inactive. Furthermore, our studies of XIST RNA accumulation and promoter methylation suggest that the basic features of XCI are normal in triploids despite the abnormal X:autosome ratio.

  13. Effects on Genome Constitution and Novel Cell Wall Formation Caused by the Addition of 5RS Rye Chromosome to Common Wheat

    Zhi-Jun Cheng; Minoru Murata; Sodmergen; Xiao-Mei Li; Hai Nian; Jian-Min Wan

    2008-01-01

    The cytological instability of common wheat-rye addition lines was investigated in the present study. The chromosome numbers of almost all addition lines were considerably stable, but those of CS + 5R were very variable. The rye chromosome added in this line was found to be much shorter than expected. Fluorescent in situ hybridization with 5S rDNA and the centromere-specific probes clearly revealed that the short rye chromosome contains only a short arm of chromosome 5R (5RS). In this line, chromosome numbers of both 5RS and common wheat were changeable. The chromosome numbers ranged from 2n = 36 to 2n = 44 in the cells carrying two 5RS, and ranged from 2n = 31 to 2n = 44 in one 5RS cells. In addition to the chromosome instability, the multicells wrapped in a sac-like structure were frequently observed in the root meristematic tissues of CS + 5RS after the enzyme treatment for chromosome preparation. Genomic in situ hybridization with rye DNA as a probe showed that all cells in sacs investigated were at the interphase stage and contained one or two 5RS chromosomes. An electron microscopic analysis revealed that the cells of CS + 5RS, particularly in sacs, have abnormal (irregular and curved) cell walls. These results indicate that 5RS has (a) specific factor(s) influencing the cell wall development as well as the genome stability.

  14. Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature.

    Jeon, Kwon Chan; Chen, Lei-Shih; Goodson, Patricia

    2012-01-01

    We performed a systematic review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as reported in published studies from 1987 to May 2011. Based on the Matrix Method for systematic reviews, 19 studies were found in five electronic databases, meeting specific inclusion/exclusion criteria. Abstracted data were organized in a matrix. Alongside the search for factors influencing parental decisions, each study was judged on its methodological quality and assigned a methodological quality score. Decisions either to terminate or to continue a sex chromosome abnormality-affected pregnancy shared five similar factors: specific type of sex chromosome abnormality, gestational week at diagnosis, parents' age, providers' genetic expertise, and number of children/desire for (more) children. Factors unique to termination decisions included parents' fear/anxiety and directive counseling. Factors uniquely associated with continuation decisions were parents' socioeconomic status and ethnicity. The studies' average methodological quality score was 10.6 (SD = 1.67; range, 8-14). Findings from this review can be useful in adapting and modifying guidelines for genetic counseling after prenatal diagnosis of a sex chromosome abnormality. Moreover, improving the quality of future studies on this topic may allow clearer understanding of the most influential factors affecting parental decisions.

  15. Chromosome abnormalities in colorectal adenomas: two cytogenetic subgroups characterized by deletion of 1p and numerical aberrations

    Bomme, L; Bardi, G; Pandis, N

    1996-01-01

    changes were +20, +13, and monosomy 18, found in six, five, and two adenomas, respectively. Rearrangement of chromosome 1 was the most common structural change. Abnormalities involving 1p were seen in six adenomas, leading to visible loss of material in three. One adenoma had one clone with a large...

  16. Cytomixis and meiotic abnormalities during microsporogenesis are responsible for male sterility and chromosome variations in Houttuynia cordata.

    Guan, J-Z; Wang, J-J; Cheng, Z-H; Liu, Y; Li, Z-Y

    2012-01-17

    Houttuynia cordata (Saururaceae) is a leaf vegetable and a medicinal herb througout much of Asia. Cytomixis and meiotic abnormalities during microsporogenesis were found in two populations of H. cordata with different ploidy levels (2n = 38, 96). Cytomixis occurred in pollen mother cells during meiosis at high frequencies and with variable degrees of chromatin/chromosome transfer. Meiotic abnormalities, such as chromosome laggards, asymmetric segregation and polyads, also prevailed in pollen mother cells at metaphase of the first division and later stages. They were caused by cytomixis and resulted in very low pollen viability and male sterility. Pollen mother cells from the population with 2n = 38 showed only simultaneous cytokinesis, but most pollen mother cells from the population with 2n = 96 showed successive cytokinesis; a minority underwent simultaneous cytokinesis. Cytomixis and irregular meiotic divisions appear to be the origin of the intraspecific polyploidy in this species, which has large variations in chromosome numbers.

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

    Zaida Sarrate

    2014-12-01

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

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

    Sarrate, Zaida; Vidal, Francesca; Blanco, Joan

    2014-01-01

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

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

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

    2013-01-01

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

  20. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A

    2012-01-01

    anomaly. There were 10 323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10 000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10 000 births, respectively (53, 13 and 5% of all reported chromosome errors......, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10 000 births, respectively. There were 1 737 RCA cases (17%), giving a prevalence of 7.4/10 000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced...

  1. Production and cytogenetics of Brassica campestris-alboglabra chromosome addition lines

    Chen, B.Y.; Cheng, B.F.; Bagger Jørgensen, Rikke;

    1997-01-01

    Four different Brassica campestris-alboglabra monosomic addition lines (AA + 1 chromosome from C, 2n = 21) were obtained after consecutive backcrosses between resynthesized B. napus (AACC, 2n = 38) and the parental B. campestris (AA, 2n = 20) accession. The alien chromosomes of B. alboglabra (CC,...

  2. Epstein-Barr virus BGLF4 kinase retards cellular S-phase progression and induces chromosomal abnormality.

    Yu-Hsin Chang

    Full Text Available Epstein-Barr virus (EBV induces an uncoordinated S-phase-like cellular environment coupled with multiple prophase-like events in cells replicating the virus. The EBV encoded Ser/Thr kinase BGLF4 has been shown to induce premature chromosome condensation through activation of condensin and topoisomerase II and reorganization of the nuclear lamina to facilitate the nuclear egress of nucleocapsids in a pathway mimicking Cdk1. However, the observation that RB is hyperphosphorylated in the presence of BGLF4 raised the possibility that BGLF4 may have a Cdk2-like activity to promote S-phase progression. Here, we investigated the regulatory effects of BGLF4 on cell cycle progression and found that S-phase progression and DNA synthesis were interrupted by BGLF4 in mammalian cells. Expression of BGLF4 did not compensate Cdk1 defects for DNA replication in S. cerevisiae. Using time-lapse microscopy, we found the fate of individual HeLa cells was determined by the expression level of BGLF4. In addition to slight cell growth retardation, BGLF4 elicits abnormal chromosomal structure and micronucleus formation in 293 and NCP-TW01 cells. In Saos-2 cells, BGLF4 induced the hyperphosphorylation of co-transfected RB, while E2F1 was not released from RB-E2F1 complexes. The E2F1 regulated activities of the cyclin D1 and ZBRK1 promoters were suppressed by BGLF4 in a dose dependent manner. Detection with phosphoamino acid specific antibodies revealed that, in addition to Ser780, phosphorylation of the DNA damage-responsive Ser612 on RB was enhanced by BGLF4. Taken together, our study indicates that BGLF4 may directly or indirectly induce a DNA damage signal that eventually interferes with host DNA synthesis and delays S-phase progression.

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

    Akiko Takashima

    2016-08-01

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

  4. Abnormal pregnancy of balanced chromosomal translocation carriers%染色体平衡易位与异常孕产

    李忻; 杨鑫; 张韫; 靳耀英

    2011-01-01

    目的 探讨染色体平衡易位与异常孕产的关系.方法 用常规方法制备外用血淋巴细胞染色体标本,对有异常孕产史的夫妇进行染色体G显带核型分析.结果 检出染色体平衡易位携带者15例中,女12例,男3例.平衡携带者表型及智力均无明显异常.结论 染色体平衡易位携带者妊娠结局以孕早期流产为主,染色体平衡易位是造成临床流产、死胎、生育畸形儿的重要原因之一.对平衡易位携带者再次妊娠时必须做产前诊断,控制不良遗传因素个体的出生.%Objective;To investigate the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods: Chromosomal karyotypes were examined in married couples with a history of abnormal pregnancy by periphery blood lymphocyte culture and carried out C banding. Results;We detected IS cases with balanced chromosomal translocation, 12 cases were female and 3 cases were male. Phenotype and intelligence in the carriers of balanced chromosomal translocation were not significantly abnormal. Conclusion: Spontaneous abortion in the first trimester is the main mode of abnormal pregnancy in the carriers of balanced chromosomal translocation, there is a close relationship between balanced translocations and spontaneous abortions. Cvtogenetic deception is necessary for carriers and their families in fundamental hospital, it can be helpful for prenatal diagnosis and eugenic.

  5. The long-term clinical implications of clonal chromosomal abnormalities in newly diagnosed chronic phase chronic myeloid leukemia patients treated with imatinib mesylate.

    Lee, Sung-Eun; Choi, Soo Young; Bang, Ju-Hee; Kim, Soo-Hyun; Jang, Eun-Jung; Byeun, Ji-Young; Park, Jin Eok; Jeon, Hye-Rim; Oh, Yun Jeong; Kim, Myungshin; Kim, Dong-Wook

    2012-11-01

    The aim of this study was to evaluate the long-term clinical significance of an additional chromosomal abnormality (ACA), variant Philadelphia chromosome (vPh) at diagnosis, and newly developed other chromosomal abnormalities (OCA) in patients with chronic myeloid leukemia (CML) on imatinib (IM) therapy. Sequential cytogenetic data from 281 consecutive new chronic phase CML patients were analyzed. With a median follow-up of 78.6 months, the 22 patients with vPh (P = 0.034) or ACA (P = 0.034) at diagnosis had more events of IM failure than did the patients with a standard Ph. The 5-year overall survival (OS), event-free survival (EFS), and failure-free survival (FFS) rates for patients with vPh at diagnosis were 77.8%, 75.0%, and 53.3%, respectively; for patients with ACA at diagnosis, 100%, 66.3%, and 52.1%, respectively; and for patients with a standard Ph, 96.0%, 91.3%, and 83.7%, respectively. During IM therapy, eight patients developed an OCA, which had no impact on outcomes as a time-dependent covariate in our Cox proportional hazards regression models. This study showed that vPh was associated with poor OS and FFS and that ACA had adverse effects on EFS and FFS. In addition, no OCA, except monosomy 7, had any prognostic impact, suggesting that the development of OCA may not require a change in treatment strategy.

  6. Impact of sperm genome decay on Day-3 embryo chromosomal abnormalities from advanced-maternal-age patients.

    Kaarouch, Ismail; Bouamoud, Nouzha; Louanjli, Noureddine; Madkour, Aicha; Copin, Henri; Benkhalifa, Moncef; Sefrioui, Omar

    2015-10-01

    Infertile male patients often exhibit unconventional semen parameters, including DNA fragmentation, chromatin dispersion, and aneuploidy-collectively referred to as sperm genome decay (SGD). We investigated the correlation of SGD to embryo chromosomal abnormalities and its effect on clinical pregnancy rates in patients with advanced maternal age (AMA) (>40 years) who were undergoing intracytoplasmic sperm injection-preimplantation genetic screening (ICSI-PGS). Three groups were assessed: patients with AMA and male partners with normal sperm (AMA-N); AMA patients and male partners presenting with SGD (AMA-SGD); and young fertile female patients and male partners with SGD (Y-SGD). We found a significant increase in embryonic chromosomal abnormalities-polyploidy, nullisomy, mosaicism, and chaotic anomaly rates-when semen parameters are altered (76% vs. 67% and 66% in AMA-SGD vs. AMA-N and Y-SGD groups, respectively). Statistical analysis showed a correlation between SGD and aneuploidies of embryonic chromosomes 13, 16, 21, X, and Y, as well as negative clinical outcomes. Incorporation of molecular sperm analyses should therefore significantly minimize the risk of transmission of chromosomal anomalies from spermatozoa to embryos, and may provide better predictors of pregnancy than conventional sperm analyses. We also demonstrated that an ICSI-PGS program should be implemented for SGD patients in order to limit transmission of chromosomal paternal anomalies and to improve clinical outcome.

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

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

    2015-03-01

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

  8. Correlation between abnormal chromosome, chromosome polymorphism and reproduction abnormality%染色体异常、染色体多态性与生殖异常的相关性分析

    唐芳; 陶晓海; 卢航; 屈艳霞; 杨烨; 李雅文; 左连东; 陈桂兰

    2015-01-01

    目的:探讨染色体异常、染色体多态性与不孕不育、不良妊娠等生殖异常的关系。方法收集本所近5年生殖异常(不孕不育和不良妊娠)患者150例,行外周血淋巴细胞培养及染色体制片,G显带分析。结果检出染色体异常9例(克氏综合征2例、特纳综合征2例、平衡易位2例、罗氏易位2例和倒位1例),染色体异常发生率为6.0%;检出染色体多态性32例,染色体多态性发生率为21.33%。其中,D/Gs+和1,9,16qh+是最主要的染色体多态类型。性染色体异常和性染色体多态性主要发生在不孕不育组;常染色体异常和常染色体多态性主要发生在不良妊娠组。结论染色体异常和染色体多态性是可能导致不孕不育及不良妊娠的重要原因,对生殖异常患者进行染色体检查很有必要。%Objective To analyze the relationship of abnormal chromosome, chromosome polymorphism with infertility, adverse pregnancy. Methods One hundred and fifty patients with reproductive abnormalities were collected in the recent five years. Then the peripheral blood were cultured and the cells were collected for chromo-some preparation, G banding, karyotype analysis. Results Nine cases were detected with chromosomal abnormality (including 2 cases of Klinefelter syndrome, 2 cases of Turner syndrome, 2 cases of balanced translocation, 2 cases of Robertsonian translocation, and 1 case of inversion), and the abnormal rate was 6.0%. Among the 150 cases, 32 were detected with chromosome polymorphism, with the polymorphism rate of 21.33%. Abnormality and polymorphism of sex chromosome mainly influenced infertility rate, and the abnormality and polymorphism of euchromosome mainly influenced adverse pregnancy rate. Conclusion Abnormalities and polymorphism of chromosome is an important reason of infertility and adverse pregnancy. It is necessary to perform chromosome examination for patients with repro-ductive abnormalities.

  9. 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 (

  10. Increased likelihood of post-polycythemia vera myelofibrosis in Ph-negative MPN patients with chromosome 12 abnormalities.

    Benton, Christopher B; Tanaka, Maria; Wilson, Catherine; Pierce, Sherry; Zhou, Lingsha; Cortes, Jorge; Kantarjian, Hagop; Verstovsek, Srdan

    2015-04-01

    Chromosome 12 (Chr12) abnormalities have been described for individual patients with Philadelphia chromosome-negative myeloproliferative neoplasms (Ph-neg MPN), however the frequency, characteristics, and outcomes of such patients as a whole have not been investigated. We reviewed a database of 1787 consecutive Ph-neg MPN patients seen at our institution and determined that 2% of Ph-neg MPN patients harbored an alteration involving Chr12 by cytogenetic evaluation. Retrospective chart review revealed that patients with Chr12 abnormalities had a higher likelihood of having myelofibrosis (MF) compared to patients without a Chr12 abnormality, and were more likely to have post-polycythemia vera MF. The most common alterations in Chr12 in MF patients involved 12q13, 12q15, 12q24, and trisomy 12, and >40% of Chr12 Ph-neg MPN patients had cytogenetic evolution. Chr12 abnormalities did not significantly correlate with JAK2 status, progression to acute myeloid leukemia, or survival, however patients with 12q24 abnormalities trended toward poorer outcomes.

  11. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: A general strategy using hypervariable subtelomeric DNA polymorphisms

    Wilkie, A.O.M.

    1993-09-01

    Given the availability of DNA from both parents, unusual segregation of hypervariable DNA polymorphisms (HVPs) in the offspring may be attributable to deletion, unbalanced chromosomal translocation, or uniparental disomy. The telomeric regions of chromosomes are rich in both genes and hypervariable minisatellite sequences and may also be particularly prone to cryptic breakage events. Here the author describes and analyzes a general approach to the detection of subtelomeric abnormalities and uniparental disomy in patients with unexplained mental retardation. With 29 available polymorphic systems, [approximately]50%-70% of these abnormalities could currently be detected. Development of subtelomeric HVPs physically localized with respect to their telomers should provide a valuable resource in routine diagnostics. 73 refs., 4 figs., 4 tabs.

  12. Nonrandom chromosomal abnormalities in acute nonlymphocytic leukemia in patients treated for Hodgkin disease and non-Hodgkin lymphomas

    Rowley, J.D.; Golomb, H.M.; Vardiman, J.

    1977-11-01

    Chromosomal analyses of myeloid cells were performed on ten patients who had acute nonlymphocytic leukemia (ANLL) following treatment for malignant lymphoma. Seven patients had Hodgkin disease and three had non-Hodgkin lymphoma, poorly differentiated lymphocytic type. Six patients were treated with radiotherapy and chemotherapy; two had radiotherapy only, and two chemotherapy only. The median time between diagnosis of lymphoma and subsequent leukemia was 58 mo. Four patients had the blast phase of a myeloproliferative syndrome, four had acute myelogenous leukemia, one had acute promyelocytic leukemia, and the tenth, erythroleukemia. None of four patients whose leukemia was treated with intensive chemotherapy responded. Every patient had an abnormal karyotype. Seven of the patients showed hypodiploid cell lines, two a pseudodiploid, and one a hyperdiploid cell line. Cells from every patient except one were lacking a B chromosome; in eight, this could be identified as a No. 5. Five of nine patients were lacking a No. 7. Loss or rearrangement of No. 17 was found in four and of Nos. 6 or 8 in three patients. Many of the karyotypes were bizarre, with marker chromosomes and minute chromosomes. The karyotypic pattern seen in these patients showed no correlation with the nature of the original lymphoma, the type of leukemia, or the therapy used. The chromosomal pattern of hypodiploid cell lines found in ANLL that arose de novo was similar to that occurring in treated lymphoma. However, in ANLL de novo, less than half of the patients had fewer than 46 chromosomes, and less than 10% had fewer than 45 chromosomes. In this study, 70% of the patients had fewer than 46 and 40% had fewer than 45 chromosomes. The critical question thus concerns the factors, as yet unknown, that predispose to the development of hypodiploid modal numbers in ANLL in lymphoma.

  13. Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

    Jonathon Blake

    Full Text Available Balanced chromosome abnormalities (BCAs occur at a high frequency in healthy and diseased individuals, but cost-efficient strategies to identify BCAs and evaluate whether they contribute to a phenotype have not yet become widespread. Here we apply genome-wide mate-pair library sequencing to characterize structural variation in a patient with unclear neurodevelopmental disease (NDD and complex de novo BCAs at the karyotype level. Nucleotide-level characterization of the clinically described BCA breakpoints revealed disruption of at least three NDD candidate genes (LINC00299, NUP205, PSMD14 that gave rise to abnormal mRNAs and could be assumed as disease-causing. However, unbiased genome-wide analysis of the sequencing data for cryptic structural variation was key to reveal an additional submicroscopic inversion that truncates the schizophrenia- and bipolar disorder-associated brain transcription factor ZNF804A as an equally likely NDD-driving gene. Deep sequencing of fluorescent-sorted wild-type and derivative chromosomes confirmed the clinically undetected BCA. Moreover, deep sequencing further validated a high accuracy of mate-pair library sequencing to detect structural variants larger than 10 kB, proposing that this approach is powerful for clinical-grade genome-wide structural variant detection. Our study supports previous evidence for a role of ZNF804A in NDD and highlights the need for a more comprehensive assessment of structural variation in karyotypically abnormal individuals and patients with neurocognitive disease to avoid diagnostic deception.

  14. Occurrence of differential meiotic associations and additional chromosomes in the embryo-sac mother cells of Allium roylei Stearn

    Geeta Sharma; Ravinder N. Gohil

    2011-04-01

    A small population of complex translocation heterozygote plants of Allium roylei from the Bani region of Jammu Province was studied for meiosis in the female track. This study resulted in identification of two variants, having embryo-sac mother cells (EMCs) with more than 16 chromosomes. EMCs of the remaining plants invariably had diploid $(2n = 16)$ chromosome complement. Female meiosis, in general, was found to be abnormal, with nearly 23% and 11% chromosomes associating as quadrivalents or trivalents at prophase I and at metaphase I, respectively. This was followed by irregular segregation of chromosomes at anaphase I. Amongst the variants; one had 38% EMCs with eight bivalents plus two small sized chromosomes. Their small size, dispensable nature and tendency to affect the pairing behaviour of normal complement are some of the features that latter chromosomes share with the B chromosomes. Seventeen to nineteen chromosomes were observed in 35% EMCs of other variant; the remaining cells had 16 chromosomes. Chromosomal behaviour in both kind of cells (euploid and aneuploid) was more or less similar. Unlike female meiocytes, male meiocytes analysed earlier of this strain always had 16 chromosomes which paired to form extremely complex associations involving 3–16 chromosomes. The most likely cause of this asynchrony with regards to number of chromosomes involved in multivalent formation seems to be interaction of genes controlling chiasma formation with the different physiological conditions of male and female meiocytes.

  15. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

    Peddibhotla, Sirisha; Nagamani, Sandesh C S; Erez, Ayelet; Hunter, Jill V; Holder, J Lloyd; Carlin, Mary E; Bader, Patricia I; Perras, Helene M F; Allanson, Judith E; Newman, Leslie; Simpson, Gayle; Immken, LaDonna; Powell, Erin; Mohanty, Aaron; Kang, Sung-Hae L; Stankiewicz, Pawel; Bacino, Carlos A; Bi, Weimin; Patel, Ankita; Cheung, Sau W

    2015-01-01

    Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are important for the normal development of brain and delineation of a critical deletion region for structural brain abnormalities may lead to a better genotype-phenotype correlation. We conducted a detailed clinical and molecular characterization of seven unrelated patients with deletions involving chromosome 6q27. All patients had structural brain abnormalities. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. The smallest region of overlap spans 1.7 Mb and contains DLL1, THBS2, PHF10, and C6orf70 (ERMARD) that are plausible candidates for the causation of structural brain abnormalities. Our study reiterates the importance of 6q27 region in normal development of brain and helps identify putative genes in causation of structural brain anomalies.

  16. Small supernumerary marker chromosome and chromosome 18p abnormalities%编外标记染色体与18p染色体异常

    刘玉鹏; 秦炯

    2016-01-01

    人类正常细胞核中有22对常染色体与1对性染色体,但一些人细胞核内另有多余的常染色体片段,被称为编外标记染色体(small supernumerary marker chromosome,sSMC).sSMC属于染色体结构异常,因其片段太小,并缺少明显的显带模式,无法通过传统的细胞遗传学显带技术进行识别,需要采用芯片比较基因组杂交或荧光原位杂交等多种分子生物学诊断方法才能确诊.由sSMC导致的染色体异常综合征较多,常见为Pallister-Killian综合征、等臂18p染色体综合征、猫眼综合征、Emanuel综合征.智力障碍人群中sSMC中发生率较高,临床缺乏特异性表现,随着分子细胞遗传学分析技术的提高,sSMC的识别率逐步提高.遗传咨询及产前诊断是减少sSMC发生的重要措施,分子生物学技术是明确sSMC的必要方法.现就sSMC相关18p染色体异常综合征的核型特点、发病机制、临床表现等进行综述.%Humans typically have 22 pairs of autosomal chromosomes in cells,and a pair of sex chromosomes.Some individuals have an extra,autosomal chromosome called a small supernumerary marker chromosome (sSMC).sSMC is a structurally abnormal chromosome fragment.The fragments are too small and no-specific banding pattern to be identified by conventional banding cytogenetic analysis.Array-based comparative genomic hybridization (aCGH),fluorescence in situ hybridization (FISH) or other molecular biological methods are necessary for the diagnosis.This article summarized the karyotype,pathogenesis,and the clinical manifestations of the sSMC-related chromosome 18p abnormalities.The patients with sSMC usually presented with abnormal chromosome syndrome.Some syndromes are relative common,such as Pallister-Killian syndrome,isochromosome 18p syndrome,Cat eye syndromes or Emanuel syndrome.sSMC is considered to be the frequent cause of mental retardation.The patients have no specific symptoms.With the progress of molecular cytogenetics

  17. Improved detection of chromosomal abnormalities in chronic lymphocytic leukemia by conventional cytogenetics using CpG oligonucleotide and interleukin-2 stimulation: A Belgian multicentric study.

    Put, Natalie; Konings, Peter; Rack, Katrina; Jamar, Mauricette; Van Roy, Nadine; Libouton, Jeanne-Marie; Vannuffel, Pascal; Sartenaer, Daniel; Ameye, Geneviève; Speleman, Frank; Herens, Christian; Poirel, Hélène A; Moreau, Yves; Hagemeijer, Anne; Vandenberghe, Peter; Michaux, Lucienne

    2009-10-01

    We performed a multicentric study to assess the impact of two different culture procedures on the detection of chromosomal abnormalities in 217 consecutive unselected cases with chronic lymphocytic leukemia (CLL) referred for routine analysis either at the time of diagnosis (n = 172) or during disease evolution (n = 45). Parallel cultures of peripheral blood or bone marrow were set up with the addition of either the conventional B-cell mitogen 12-O-tetradecanoyl-phorbol-13-acetate (TPA) or a combination of CpG oligonucleotide (CpG) and interleukin-2 (IL-2). Cytogenetic analyses were performed on both cultures. Clonal abnormalities were identified in 116 cases (53%). In 78 cases (36%), the aberrant clone was detected in both cultures. Among these, the percentages of aberrant metaphases were similar in both conditions in 17 cases, higher in the CpG/IL-2 culture in 43 cases, and higher in the TPA culture in 18 cases. Clonal aberrations were detected in only one culture, either in CpG/IL-2 or TPA in 33 (15%) and 5 (2%) cases, respectively. Taken together, abnormal karyotypes were observed in 51% with CpG/IL-2 and 38% with TPA (P cytogenetic analysis in 80 cases: del(13q) (n = 71), del(11q) (n = 5), +12 (n = 2), del(14q) (n = 1), and del(17p) (n = 1). In conclusion, our results confirm that CpG/IL-2 stimulation increases the detection rate of chromosomal abnormalities in CLL compared with TPA and that further improvement can be obtained by FISH. However, neither conventional cytogenetics nor FISH detected all aberrations, demonstrating the complementary nature of these techniques.

  18. Msh2 deficiency leads to chromosomal abnormalities, centrosome amplification, and telomere capping defect

    Wang, Yisong [ORNL; Liu, Yie [ORNL

    2006-01-01

    Msh2 is a key mammalian DNA mismatch repair (MMR) gene and mutations or deficiencies in mammalian Msh2 gene result in microsatellite instability (MSI+) and the development of cancer. Here, we report that primary mouse embryonic fibroblasts (MEFs) deficient in the murine MMR gene Msh2 (Msh2-/-) showed a significant increase in chromosome aneuploidy, centrosome amplification, and defective mitotic spindle organization and unequal chromosome segregation. Although Msh2-/- mouse tissues or primary MEFs had no apparent change in telomerase activity, telomere length, or recombination at telomeres, Msh2-/- MEFs showed an increase in chromosome end-to-end fusions or chromosome ends without detectable telomeric DNA. These data suggest that MSH2 helps to maintain genomic stability through the regulation of the centrosome and normal telomere capping in vivo and that defects in MMR can contribute to oncogenesis through multiple pathways.

  19. Abnormal pairing of X and Y sex chromosomes during meiosis I in interspecific hybrids of Phodopus campbelli and P. sungorus.

    Ishishita, Satoshi; Tsuboi, Kazuma; Ohishi, Namiko; Tsuchiya, Kimiyuki; Matsuda, Yoichi

    2015-03-24

    Hybrid sterility plays an important role in the maintenance of species identity and promotion of speciation. Male interspecific hybrids from crosses between Campbell's dwarf hamster (Phodopus campbelli) and the Djungarian hamster (P. sungorus) exhibit sterility with abnormal spermatogenesis. However, the meiotic phenotype of these hybrids has not been well described. In the present work, we observed the accumulation of spermatocytes and apoptosis of spermatocyte-like cells in the testes of hybrids between P. campbelli females and P. sungorus males. In hybrid spermatocytes, a high frequency of asynapsis of X and Y chromosomes during the pachytene-like stage and dissociation of these chromosomes during metaphase I (MI) was observed. No autosomal univalency was observed during pachytene-like and MI stages in the hybrids; however, a low frequency of synapsis between autosomes and X or Y chromosomes, interlocking and partial synapsis between autosomal pairs, and γ-H2AFX staining in autosomal chromatin was observed during the pachytene-like stage. Degenerated MI-like nuclei were frequently observed in the hybrids. Most of the spermatozoa in hybrid epididymides exhibited head malformation. These results indicate that the pairing of X and Y chromosomes is more adversely affected than that of autosomes in Phodopus hybrids.

  20. Chromosomal abnormality rates at amniocentesis and in live-born infants.

    Hook, E B; Cross, P K; Schreinemachers, D M

    1983-04-15

    Regression-smoothed maternal age-specific rates of six different categories of cytogenetic abnormalities in recent large-scale prenatal cytogenetic studies were multiplied by independently derived fetal selection coefficients--factors that adjust for the excess likelihood of spontaneous loss of cytogenetically abnormal fetuses--to obtain estimated maternal age-specific rates of these categories of cytogenetic abnormalities in live-born infants. The derived rates apply to women whose only risk factor is advanced maternal age. The categories analyzed were 47,+21 (Down's syndrome), 47,+18 (Edwards' syndrome), 47,+13 (Patau's syndrome), 47,XXY (Klinefelter's syndrome), 47,XXX, and the group of other clinically significant abnormalities considered collectively. The rate of all clinically significant abnormalities considered together derived in this study was about five per 1,000 at age 35 years, 15 per 1,000 at age 40 years, and 50 per 1,000 at age 45 years.

  1. Modified C-band technique for the analysis of chromosome abnormalities in irradiated human lymphocytes

    Nakata, Akifumi; Akiyama, Miho; Yamada, Yuji [Biodosimetry Section, Department of Radiation Dosimetry, Research Center for Radiation Emergency Medicine, National Institute of Radiological Sciences, 4-9-1 Anagawa, Inage-ku, Chiba 263-8555 (Japan); Yoshida, Mitsuaki A., E-mail: myoshida@cc.hirosaki-u.ac.jp [Biodosimetry Section, Department of Radiation Dosimetry, Research Center for Radiation Emergency Medicine, National Institute of Radiological Sciences, 4-9-1 Anagawa, Inage-ku, Chiba 263-8555 (Japan)

    2011-10-15

    A modified C-band technique was developed in order to analyze more accurately dicentric, tricentric, and ring chromosomes in irradiated human peripheral lymphocytes. Instead of the original method relying on treatment with barium hydroxide Ba(OH){sub 2}, C-bands were obtained using a modified form of heat treatment in formamide followed with DAPI staining. This method was tentatively applied to the analysis of dicentric chromosomes in irradiated human lymphocytes to examine its availability. The frequency of dicentric chromosome was almost the same with conventional Giemsa staining and the modified C-band technique. In the analysis using Giemsa staining, it is relatively difficult to identify the centromere on the elongated chromosomes, over-condensed chromosomes, fragment, and acentric ring. However, the modified C-band method used in this study makes it easier to identify the centromere on such chromosomes than with the use of Giemsa staining alone. Thus, the modified C-band method may give more information about the location of the centromere. Therefore, this method may be available and more useful for biological dose estimation due to the analysis of the dicentric chromosome in human lymphocytes exposed to the radiation. Furthermore, this method is simpler and faster than the original C-band protocol and fluorescence in situ hybridization (FISH) method with the centromeric DNA probe. - Highlights: > The dicentric (dic) assay is the most effective for the radiation biodosimetry. > It is important to recognize the centromere of the dic. > We improved a C-band technique based on heat denaturation. > This technique enables the accurate detection of a centromere. > This method may be available and more useful for biological dose estimation.

  2. A new recurring chromosome 13 abnormality in two older patients with de novo acute myeloid leukemia: An Indian experience

    Trivedi P

    2009-01-01

    Full Text Available We report here two cases of trisomy 13 in acute myeloid leukemia M1 subtype. short-term unstimulated bone marrow and peripheral blood lymphocyte culture showed 47, XY, +13 in all metaphase plates and trisomy 13 was confirmed with whole chromosome paint probes. Trisomy 13 in AML-M1 is a rare numerical abnormality. This is the first Indian report of sole trisomy 13 in AML-M1. Here, we present two cases of elder male patients, which may constitute a distinct subtype.

  3. Abnormal meiotic recombination with complex chromosomal rearrangement in an azoospermic man.

    Wang, Liu; Iqbal, Furhan; Li, Guangyuan; Jiang, Xiaohua; Bukhari, Ihtisham; Jiang, Hanwei; Yang, Qingling; Zhong, Liangwen; Zhang, Yuanwei; Hua, Juan; Cooke, Howard J; Shi, Qinghua

    2015-06-01

    Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis and recombination in an azoospermic reciprocal translocation 46, XY, t(5;7;9;13)(5q11;7p11;7p15;9q12;13p12) carrier. Histological examination of the haematoxylin and eosin stained testicular sections revealed reduced germ cells with no spermatids or sperm in the patient. TdT (terminal deoxynucleotidyl transferase)-mediated dUDP nick-end labelling assay showed apoptotic cells in testicular sections of translocation carrier. Immnunofluorescence analysis indicated the presence of an octavalent in all the pachytene spermatocytes analysed in the patient. Meiotic progression was disturbed, as an increase in zygotene (P recombination frequency was observed on 5p, 5q, 7q, 9p and 13q in the translocation carrier compared with the reported controls. A significant reduction in XY recombination frequency was also found in the participants. Our results indicated that complex chromosomal rearrangements can impair synaptic integrity of translocated chromosomes, which may reduce chromosomal recombination on translocated as well as non-translocated chromosomes, a phenomenon commonly known as interchromosomal effect.

  4. Pregnancy Complications: Umbilical Cord Abnormalities

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

  5. Chromosome

    Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA ... is the building block of the human body. Chromosomes also contain proteins that help DNA exist in ...

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

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

    2009-01-01

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

  7. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

    Beggs, A.H.; Neumann, P.E.; Anderson, M.S.; Kunkel, L.M. (Harvard Medical School, Boston, MA (United States)); Arahata, Kiichi; Arikawa, Eri; Nonaka, Ikuya (National Inst. of Neuroscience, Tokyo (Japan))

    1992-01-15

    Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3,500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, the authors propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.

  8. Retrospective analysis of fetal sex chromosome abnormalities%胎儿性染色体异常的回顾性分析

    欧德明; 董兴盛; 江陵; 陆林苑; 王德刚

    2015-01-01

    Objective To investigate the incidence of fetal sex chromosomal abnormalities, the distribution of various sex chromosome abnormal karyotypes and the outcomes of pregnancy, in order to provide more evidences for genetic counseling. Methods The cytogenetic analysis results of 8 864 pregnant women underwent prenatal diagnosis in Zhongshan Fraternity Hospital Prenatal Diagnosis Centre during 2009~2013 were retrospectively analyzed. The results of fetal sex chromosome abnormalities and pregnancy outcomes were summarized. Results Among the 57 cases(0. 64 %) with sex chromosomal abnormalities, there were 53 cases were chromosome number abnormalities(0. 60 %), 37 cases were simple type, 16 cases were mosaicism, in which 29 cases were Turner syndrome, 4 cases were XYY syndrome, 11 cases were XXX syndrome,9 cases were XXY syndrome, and 4 cases were chromosomal structural abnormalities ( 0. 05 %) . Conclusion Invasive prenatal diagnosis has an important role for determining fetal sex chromosome abnormalities, and serological screening and B-ultrasound has an important value for fetal sex chromosome abnormalities. The pregnancy outcome and ethical issues related guidelines of fetal sex chromosomal abnormalities need to be developed.%目的 探讨胎儿性染色体异常的发生率、常见分布情况及妊娠结局,为遗传咨询提供更多信息. 方法 回顾性分析2009~2013年中山市博爱医院产前诊断中心8 864 例孕妇产前诊断的染色体检验结果,总结性染色体异常发生情况及妊娠结局. 结果 共检出性染色体异常胎儿57例(0. 64 %). 性染色体异常中,染色体数目异常53例(0. 60%),单纯型37例,嵌合型16例,其中Turner综合征29例,XYY综合征4例,XXX综合征11例,XXY综合征9例;性染色体结构异常4例( 0. 05 %). 结论 介入性产前诊断对确定胎儿性染色体异常具有重要作用. 性染色体异常胎儿的妊娠结局及伦理问题需要国家层面制定相关指南.

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

    赵春荣

    2012-01-01

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

  10. Isolation and characterization of a Psathyrostachys huashanica Keng 6Ns chromosome addition in common wheat.

    Wanli Du

    Full Text Available The development of alien addition lines is important for transferring useful genes from exotic species into common wheat. A hybrid of common wheat cv. 7182 (2n = 6x = 42, AABBDD and Psathyrostachys huashanica Keng (2n = 2x = 14, NsNs via embryo culture produced the novel intergeneric disomic addition line 59-11. The seed morphology of 59-11 resembled the parent 7182 and it exhibited extreme agronomic characteristics, i.e., twin stable spikelets, fertile florets, and multi-kernel clusters. Furthermore, 59-11 produced plump kernels with a high seed-setting percentage during the advanced maturation stage. The line was screened based on genomic in situ hybridization, EST-SSR, EST-STS, and gliadin to identify P. huashanica chromatin in the wheat background. The chromosome number and configuration of 59-11 was 2n = 44 = 22 II and we confirmed the 6Ns disomic chromosome additions based on A-PAGE analysis and molecular markers. The results suggested that the production of twin spikelets and multiple kernels per spike in the wheat-P. huashanica addition line was related to homologous group 6 in the wheat chromosome. This is the first report of the introduction of improved spike traits into common wheat from the alien species P. huashanica and it opens up the possibility of increasing the wheat yield based on this enlarged gene pool.

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

    Lukasz P Gondek

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

  12. Clinical effect of increasing doses of lenalidomide in high-risk myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities

    Möllgård, Lars; Saft, Leonie; Treppendahl, Marianne Bach;

    2011-01-01

    Background Patients with chromosome 5 abnormalities and high-risk myelodysplastic syndromes or acute myeloid leukemia have a poor outcome. We hypothesized that increasing doses of lenalidomide may benefit this group of patients by inhibiting the tumor clone, as assessed by fluorescence in situ...... and treated with lenalidomide up to 30 mg daily for 16 weeks. Three patients had isolated del(5q), six had del(5q) plus one additional aberration, 14 had del(5q) and a complex karyotype, four had monosomy 5, and one had del(5q) identified by fluorescence in situ hybridization only. RESULTS: Major and minor...... cytogenetic responses, assessed by fluorescence in situ hybridization, were achieved in 5/26 (19%) and 2/26 (8%) patients, respectively, who received one or more dose of lenalidomide, while two patients achieved only a bone marrow response. Nine of all 26 patients (35%) and nine of the ten who completed...

  13. Effects of barley chromosome addition to wheat on behavior and development of Locusta migratoria nymphs.

    Suematsu, Shunji; Harano, Ken-ichi; Tanaka, Seiji; Kawaura, Kanako; Ogihara, Yasunari; Watari, Yasuhiko; Saito, Osamu; Tokuda, Makoto

    2013-01-01

    Locusta migratoria feeds on various Poaceae plants but barley. Barley genes related to feeding deterrence may be useful for developing novel resistant crops. We investigated the effects of barley cultivar Betzes, wheat cultivar Chinese Spring (CS), and six barley chromosome disomic addition lines of wheat (2H-7H) on locomotor activity, feeding behavior, survival and development of L. migratoria nymphs. Locomotor activity was similar in nymphs kept with wheat and 2H-7H in an actograph, whereas it was generally high in those kept with barely. No-choice and choice feeding tests suggested that barley genes related to inhibition of feeding by L. migratoria are located on barley chromosomes 5H and 6H and those related to the palatability of plants on chromosomes 2H, 5H and 6H. Rearing experiments suggested the presence of barley genes negatively affecting the survival and growth of locust nymphs on chromosomes 5H and 2H, respectively, and the effects are phase-dependent.

  14. The Dicentric Chromosome dic(20;22) Is a Recurrent Abnormality in Myelodysplastic Syndromes and Is a Product of Telomere Fusion.

    MacKinnon, Ruth N; Duivenvoorden, Hendrika M; Campbell, Lynda J; Wall, Meaghan

    2017-03-04

    We describe a recurrent dicentric chromosome formed by telomere fusion between chromosome 20 and chromosome 22 in 4 cases of myelodysplastic syndromes (MDS) or acute myeloid leukaemia (AML). In particular, the presence of residual telomere sequences at the site of translocation in 3 of the 4 cases makes a compelling case for telomere fusion. This is the first description of a recurrent telomere fusion event in any malignant condition. The 20q subtelomeric region was retained in all 4 examples despite deletion of the 20q12 region closer to the centromere. The original dicentric chromosome in all 4 cases contained nucleolus organiser region material from the short arm of chromosome 22 and had also undergone secondary rearrangements that produced amplification of the common gained region on 20q. We propose that the sequence of events producing this chromosome abnormality is: degradation of the telomeres, formation of an unstable dicentric chromosome by 20q and 22p telomere fusion, breakage-fusion-bridge cycles causing copy number aberration between the centromeres, selection of cells with 20q12 deletion, and further selection of cells with 20q11.2 gain. The last 2 steps are driver events responsible for the abnormal chromosomes found in the malignant cells. Finding recurrent patterns in the complex genome reorganisation events that characterise poor-prognosis, complex-karyotype AML and MDS will help us understand the mechanisms and oncogenic driver mutations in these poorly understood malignancies.

  15. Meiotic abnormalities

    NONE

    1993-12-31

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

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

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

    2013-07-08

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

  17. SCREENING FOR A 21-CHROMOSOME ABNORMALITY IN PREIMPLANTED EMBRYOS OF ELDERLY WOMEN

    Fang-yin Meng; Xiao-hong Li

    2004-01-01

    @@ Increasing maternal age is the only etiological factor unequivocally linked to Down's syndrome in humans. The occurrence rate of newborns with Down's syndrome is about 1/220 in women over 35 years old. However, the occurrence rate in embryos fertilized in vitro, of the elder woman is unclear. Using FISH we screened the number of chromosome 21 in preimplanted embryos of 5 elderly women (average age, 38.4 years) to study the feasibility and necessity of screening trisomy 21 in embryos in patients over 35 years old at the in vitro fertilization (IVF) center.

  18. Marker chromosomes.

    Rao, Kiran Prabhaker; Belogolovkin, Victoria

    2013-04-01

    Marker chromosomes are a morphologically heterogeneous group of structurally abnormal chromosomes that pose a significant challenge in prenatal diagnosis. Phenotypes associated with marker chromosomes are highly variable and range from normal to severely abnormal. Clinical outcomes are very difficult to predict when marker chromosomes are detected prenatally. In this review, we outline the classification, etiology, cytogenetic characterization, and clinical consequences of marker chromosomes, as well as practical approaches to prenatal diagnosis and genetic counseling.

  19. Effects of oocyte quality, incubation time and maturation environment on the number of chromosomal abnormalities in IVF-derived early bovine embryos.

    Demyda-Peyrás, Sebastian; Dorado, Jesus; Hidalgo, Manuel; Anter, Jaouad; De Luca, Leonardo; Genero, Enrique; Moreno-Millán, Miguel

    2013-01-01

    Chromosomal aberrations are one of the major causes of embryo developmental failures in mammals. The occurrence of these types of abnormalities is higher in in vitro-produced (IVP) embryos. The aim of the present study was to investigate the effect of oocyte morphology and maturation conditions on the rate of chromosomal abnormalities in bovine preimplantational embryos. To this end, 790 early cattle embryos derived from oocytes with different morphologies and matured under different conditions, including maturation period (24 v. 36h) and maturation media (five different serum supplements in TCM-199), were evaluated cytogenetically in three sequential experiments. The rates of normal diploidy and abnormal haploidy, polyploidy and aneuploidy were determined in each embryo. Throughout all the experiments, the rate of chromosomal abnormalities was significantly (P<0.05) affected by oocyte morphology and maturation conditions (maturation time and culture medium). Lower morphological quality was associated with a high rate of chromosome abnormalities (P<0.05). Moreover, polyploidy was associated with increased maturation time (P<0.01), whereas the maturation medium significantly (P<0.05) affected the rates of haploidy and polyploidy. In general, supplementing the maturation medium with oestrous cow serum or fetal calf serum resulted in higher rates of chromosomal aberrations (P<0.05) compared with the other serum supplements tested (bovine steer serum, anoestroues cow serum, bovine amniotic fluid and bovine serum albumin). On the basis of the results of the present study, we conclude that the morphological quality of oocytes and the maturation conditions affect the rate of chromosomal abnormalities in IVP bovine embryos.

  20. Evaluation of chromosomal abnormalities by clg-FISH and association with proliferative and apoptotic indexes in multiple myeloma

    Linardi, C.C.G.; Martinez, G.; Velloso, E.D.R.P.; Leal, A.M.; Kumeda, C.A.; Buccheri, V. [Disciplina de Hematologia e Hemoterapia, Departamento de Clínica Médica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Azevedo, R.S. [Departamento de Patologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil); Peliçario, L.M.; Dorlhiac-Llacer, P. [Disciplina de Hematologia e Hemoterapia, Departamento de Clínica Médica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil)

    2012-08-24

    Eighty-six newly diagnosed multiple myeloma (MM) patients from a public hospital of São Paulo (Brazil) were evaluated by cIg-FISH for the presence of del(13)(q14), t(4;14)(p16.3;q32) and del(17)(p13). These abnormalities were observed in 46.5, 9.3, and 7.0% of the patients, respectively. In order to identify the possible role of del(13)(q14) in the physiopathology of MM, we investigated the association between this abnormality and the proliferative and apoptotic indexes of plasma cells. When cases demonstrating t(4;14)(p16.3;q32) and del(17)(p13) were excluded from the analysis, we observed a trend towards a positive correlation between the proportion of cells carrying del(13)(q14) and plasma cell proliferation, determined by Ki-67 expression (r = 0.23, P = 0.06). On the other hand, no correlation between the proportion of cells carrying del(13)(q14) and apoptosis, determined by annexin-V staining, was detected (r = 0.05, P = 0.69). In general, patients carrying del(13)(q14) did not have lower survival than patients without del(13)(q14) (P = 0.15), but patients with more than 80% of cells carrying del(13)(q14) showed a lower overall survival (P = 0.033). These results suggest that, when del(13)(q14) is observed in a high proportion of malignant cells, it may have a role in determining MM prognosis. Another finding was a statistically significant lower overall survival of patients with t(4;14)(p16.3;q32) (P = 0.026). In the present study, almost half the patients with t(4;14)(p16.3;q32) died just after diagnosis, before starting treatment. This fact suggests that, in São Paulo, there may be even more patients with this chromosomal abnormality, but they probably die before being diagnosed due to unfavorable socioeconomic conditions. This could explain the low prevalence of this chromosomal abnormality observed in the present study.

  1. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

    Viuff, Mette Hansen; Krag, Kirstine Stochholm; Uldbjerg, Niels;

    2015-01-01

    STUDY QUESTION: How does a national prenatal screening program for Down syndrome (DS) perform in detecting sex chromosome abnormalities (SCAs)-Turner syndrome (TS), Klinefelter syndrome, 47,XXX and 47,XYY syndromes. SUMMARY ANSWER: The SCA detection rate resulting from DS screening was below 50...... screening procedure detected 87 per 100 000 TS (42% of expected), 19 per 100 000 Klinefelter syndrome (13% of expected), 16 per 100 000 47,XXX (16% of cases) and 5 per 100 000 47,XYY (5% of expected) SCAs, with an overall detection rate of 27%. Compared with controls, all four SCA groups showed...... significantly higher NT and lower PAPP-A compared with controls (all P syndromes (47,XXX: 24%; 47,XYY: 29%; Klinefelter syndrome: 48%, TS: 84%). For SCA fetuses carried to term, only TS fetuses had consistently lower birthweights...

  2. The use of molecular and cytogenetic methods as a valuable tool in the detection of chromosomal abnormalities in horses: a case of sex chromosome chimerism in a Spanish purebred colt.

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

    2013-01-01

    Chromosomal abnormalities associated to sex chromosomes are reported as a problem more common than believed to be in horses. Most of them remain undiagnosed due to the complexity of the horse karyotype and the lack of interest of breeders and veterinarians in this type of diagnosis. Approximately 10 years ago, the Spanish Purebred Breeders Association implemented a DNA paternity test to evaluate the pedigree of every newborn foal. All candidates who showed abnormal or uncertain results are routinely submitted to cytogenetical analysis to evaluate the presence of chromosomal abnormalities. We studied the case of a foal showing 3 and even 4 different alleles in several loci in the short tandem repeat (STR) -based DNA parentage test. To confirm these results, a filiation test was repeated using follicular hair DNA showing normal results. A complete set of conventional and molecular cytogenetic analysis was performed to determine their chromosomal complements. C-banding and FISH had shown that the foal presents a sex chimerism 64,XX/64,XY with a cellular percentage of approximately 70/30, diagnosed in blood samples. The use of a diagnostic approach combining routine parentage QF-PCR-based STR screening tested with classical or molecular cytogenetic analysis could be a powerful tool that allows early detection of foals that will have a poor or even no reproductive performance due to chromosomal abnormalities, saving time, efforts and breeders' resources.

  3. American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders.

    Cooley, Linda D; Lebo, Matthew; Li, Marilyn M; Slovak, Marilyn L; Wolff, Daynna J

    2013-06-01

    Microarray methodologies, to include array comparative genomic hybridization and single-nucleotide polymorphism-based arrays, are innovative methods that provide genomic data. These data should be correlated with the results from the standard methods, chromosome and/or fluorescence in situ hybridization, to ascertain and characterize the genomic aberrations of neoplastic disorders, both liquid and solid tumors. Over the past several decades, standard methods have led to an accumulation of genetic information specific to many neoplasms. This specificity is now used for the diagnosis and classification of neoplasms. Cooperative studies have revealed numerous correlations between particular genetic aberrations and therapeutic outcomes. Molecular investigation of chromosomal abnormalities identified by standard methods has led to discovery of genes, and gene function and dysfunction. This knowledge has led to improved therapeutics and, in some disorders, targeted therapies. Data gained from the higher-resolution microarray methodologies will enhance our knowledge of the genomics of specific disorders, leading to more effective therapeutic strategies. To assist clinical laboratories in validation of the methods, their consistent use, and interpretation and reporting of results from these microarray methodologies, the American College of Medical Genetics and Genomics has developed the following professional standard and guidelines.

  4. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

    Nagamani, Sandesh C Sreenath; Erez, Ayelet; Bay, Carolyn; Pettigrew, Anjana; Lalani, Seema R; Herman, Kristin; Graham, Brett H; Nowaczyk, Malgorzata Jm; Proud, Monica; Craigen, William J; Hopkins, Bobbi; Kozel, Beth; Plunkett, Katie; Hixson, Patricia; Stankiewicz, Pawel; Patel, Ankita; Cheung, Sau Wai

    2012-02-01

    Submicroscopic deletions involving chromosome 1q43-q44 result in cognitive impairment, microcephaly, growth restriction, dysmorphic features, and variable involvement of other organ systems. A consistently observed feature in patients with this deletion are the corpus callosal abnormalities (CCAs), ranging from thinning and hypoplasia to complete agenesis. Previous studies attempting to delineate the critical region for CCAs have yielded inconsistent results. We conducted a detailed clinical and molecular characterization of seven patients with deletions of chromosome 1q43-q44. Using array comparative genomic hybridization, we mapped the size, extent, and genomic content of these deletions. Four patients had CCAs, and shared the smallest region of overlap that contains only three protein coding genes, CEP170, SDCCAG8, and ZNF238. One patient with a small deletion involving SDCCAG8 and AKT3, and another patient with an intragenic deletion of AKT3 did not have any CCA, implying that the loss of these two genes is unlikely to be the cause of CCA. CEP170 is expressed extensively in the brain, and encodes for a protein that is a component of the centrosomal complex. ZNF238 is involved in control of neuronal progenitor cells and survival of cortical neurons. Our results rule out the involvement of AKT3, and implicate CEP170 and/or ZNF238 as novel genes causative for CCA in patients with a terminal 1q deletion.

  5. Comparative Study of Domoic Acid and Okadaic Acid Induced - Chromosomal Abnormalities in the CACO-2 Cell Line

    Edmond E. Creppy

    2006-03-01

    Full Text Available Okadaic Acid (OA the major diarrheic shellfish poisoning (DSP toxin is known as a tumor promoter and seems likely implicated in the genesis of digestive cancer. Little is known regarding genotoxicity and carcinogenicity of Domoic Acid (DA, the major Amnesic Shellfish Poisoning (ASP toxin. Both OA and DA occur in seafood and are of human health concerns. Micronuclei (MN arise from abnormalities in nuclear division during mitosis due to a failure of the mitotic spindle or by complex chromosomal configurations that pose problems during anaphase. In order to evaluate the ability of okadaic acid (OA and domoic acid (DA to induce DNA damage we performed the micronucleus assay using the Caco-2 cell line. To discriminate between a clastogenic or aneugenic effect of OA and DA, the micronucleus assay was conducted by cytokinesis-block micronucleus assay using cytochalasin B with Giemsa staining and/or acridine orange staining, in parallel to fluorescence in situ hybridization (FISH using a concentrated human pan-centromeric chromosome paint probe. Our results showed that OA and DA significantly increased the frequency of MN in Caco-2 cells. The MN caused by OA are found in mononucleated cells and binucleated cells, whereas those caused by DA are mainly in binucleated cells. The results of FISH analysis showed that OA induced centromere-positive micronuclei and DA increased the percentage of MN without a centromeric signal. In conclusion, both OA and DA bear mutagenic potential as revealed in Caco-2 cells by induction of MN formation. Moreover, OA induced whole chromosome loss suggesting a specific aneugenic potential, whereas DA seems simply clastogenic. At present, one cannot rule out possible DNA damage of intestinal cells if concentrations studied are reached in vivo, since this may happen with concentrations of toxins just below regulatory limits in case of frequent consumption of contaminated shell fishes.

  6. Microdissection of additional chromosome in common wheat-Th.intermedium TAI-27 and screening of its special probe

    2000-01-01

    It was identified that there were 4 St chromosomes derived from Th.intermedium in common wheat-Th.intermedium alien additional line TAI-27 by in situ hybridization.Two St chromosomes added to wheat chromosome in TAI-27 as well as two of them replaced two of 42 in wheat chromosomes.This indicates that TAI-27 is not only an alien additional line,but also a replacing line.The additional chromosomes in TAI-27 were microdissected and a microcloning library was constructed.A special probe of Th.intermedium was obtained from a microcloning library.The sequence analysis indicated that there were no homology with Genebank data.This makes it possible to screen genes with the disease-resistance,adversity-tolerance and fine character from Th.intermedium.

  7. Microdissection of additional chromosome in common wheat-Th. intermedium TAI-27 and screening of its special probe

    田靫; 卢一凡; 邓继先; 李滨; 张学勇; 刘广田

    2000-01-01

    It was identified that there were 4 St chromosomes derived from Th, intermedium in common wheat-Th. intermedium alien additional line TAI-27 by in situ hybridization. Two St chromosomes added to wheat chromosome in TAI-27 as well as two of them replaced two of 42 in wheat chromosomes. This indicates that TAI-27 is not only an alien additional line, but also a replacing line. The additional chromosomes in TAI-27 were microdissected and a microcloning library was constructed. A special probe of Th. intermedium was obtained from a microcloning library. The sequence analysis indicated that there were no homology with Genebank data. This makes it possible to screen genes with the disease-resistance, adversity-tolerance and fine character from Th.intermedium.

  8. Clinical effect of increasing doses of lenalidomide in high-risk myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities

    Möllgård, Lars; Saft, Leonie; Treppendahl, Marianne Bach;

    2011-01-01

    Patients with chromosome 5 abnormalities and high-risk myelodysplastic syndromes or acute myeloid leukemia have a poor outcome. We hypothesized that increasing doses of lenalidomide may benefit this group of patients by inhibiting the tumor clone, as assessed by fluorescence in situ hybridization...

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

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

    2013-04-01

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

  10. Allogeneic stem cell transplantation for patients with acute myeloid leukemia or myelodysplastic syndrome who have chromosome 5 and/or 7 abnormalities.

    Straaten, H.M. van der; Biezen, A. van; Brand, R.; Schattenberg, A.V.M.B.; Egeler, R.M.; Barge, R.M.; Cornelissen, J.J.L.M.; Schouten, H.C.; Ossenkoppele, G.J.; Verdonck, L.F.

    2005-01-01

    BACKGROUND AND OBJECTIVES: Chromosome 5 and/or 7 abnormalities are cytogenetic findings indicative of a poor prognosis in patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). The only potential cure for such patients is allogeneic stem cell transplantation (SCT). As data on

  11. 3156例生殖异常患者的染色体核型异常分析%Analysis of chromosome abnormities in 3 156 patients with reproduction abnormalities

    陈春; 李运星; 秦胜芳; 魏萍; 曾兰; 邓艺; 伍志灵; 叶梦玲

    2015-01-01

    目的:探讨生殖异常与染色体异常的关系。方法回顾性分析2008年8月至2014年8月四川省妇幼保健院就诊的3156例生殖异常患者的染色体核型及临床资料。结果 3156例生殖异常患者中,检出染色体异常核型82例,核型异常率为2.6%。其中非同源染色体平衡易位30例(36.59%)、性染色体数目异常28例(34.15%)、罗伯逊易位12例(14.63%)、其他染色体异常12例(14.63%)。从临床表现看,妊娠胎儿丢失患者、不孕不育患者、胎儿畸形及出生缺陷患者染色体异常率分别为3.26%(53/1625)、2.02%(25/1235)、1.35%(4/296)。结论生殖异常与染色体异常有关,对生殖异常患者进行染色体检查是必要的。%Objective To discuss the relationship between reproduction abnormality and chromosome abnormity .Methods Chromosome karyotypes and clinical data of 3 156 patients with reproduction abnormalities in Sichuan Provincial Maternity and Child Health Hospital from Aug 2008 to Aug 2014 were retrospectively analyzed .Results Among the 3 156 patients with reproduction abnormalities ,82 cases of abnormal karyotypes were detected , The incidence rate of chromosomal abnormity was 2.6%, 30 cases (36.59%) were the balance of autosomal translocation , 28 cases (34.15%) were sex chromosome aneuploidy , 12 cases (14.63%) were robertsonian translocation , 12 cases ( 14.63%) were other chromosome abnormities .As to the clinical manifestations , the chromosomal abnormity rate of miscarriage , infertility, fetal malformation and birth defect were 3.26% (53/1 625), 2.02% (25/1 235), 1.35% (4/296) respectively.Conclusion Reproductive abnormalities are associated with chromosome abnormities .It is necessary for patients with reproductive abnormalities to take chromosome examination .

  12. An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content.

    Witt, M; Michalczak, K; Latos-Bielenska, A; Jaruzelska, J; Kuczora, I; Lopez, M

    1993-04-01

    The detection of 45,X/46,XY mosaicism in patients with abnormalities of sexual differentiation is of crucial diagnostic importance. Here we present application of a PCR based method of detection of alphoid repeats of Y chromosomal origin. The method detects 0.01% of male DNA on a female DNA background. Out of 28 patients studied, in all cases where the Y chromosome or a part of it containing centromeric sequences was present, a positive amplification signal of Y chromosomal alphoid repeats was detected. In five cases the Y origin of marker chromosomes was diagnosed. The pattern of amplification signal distribution of the SRY gene was identical to that of Y specific alphoid primers, which confirms applicability of this method in the molecular diagnostic laboratory. The other diagnostic advantage is the ability to use dried blood specimens as an easy to handle and efficient source of DNA.

  13. 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.

  14. 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.

  15. VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality

    Bhagat, Manish

    2015-01-01

    The acronym VACTERL describes the non-random co-occurrence of three of the following anomalies: vertebral (V), anal (A), cardiac (C), tracheoesophageal fistula with or without oesophageal atresia (TE), renal (R) and limb defects (L). Here, we report a newborn baby with VACTERL-type anomalies along with a single umbilical artery. The additional interesting findings include development dysplasia of the right hip, dislocation of the left knee and the left club foot. The karyotype revealed 46, X,...

  16. Characterization of T. aestivum-H, californicum chromosome addition lines DA2H and MA5H

    Fang Kong; Haiyan Wang; Aizhong Cao; Bi Qin; Jianhui Ji; Suling Wang; Xiu-E Wang

    2008-01-01

    In order to transfer useful genes of Hordeum californicum into common wheat (Triticum aestivum L.), the T. aestivum c.v. Chinese Spring (CS)-H. californicum amphiploid was crossed to CS, and its backcrossing and self-fertilized progenies were analyzed by morpho-logical observation, cytological, biochemical and molecular marker techniques. Alien addition lines with two H. californicum chromo-somes were identified and their genetic constitution was characterized. STS-PCR analysis using chromosome 2B specific markers indi-cated that chromosome H3 of 1t. califomicum belongs to homoeologous group 2, and was thus designated 2H. SDS-PAGE showed that chromosome H2 of H. californicum belongs to homoeologous group 5, and was designated 5H. The CS-H. californicum amphiploid and the chromosome addition lines (DA2H and MA5H) identified were evaluated for powdery mildew (Erysiphe graminis f. sp. triticii) resis-tance in field. The preliminary results indicated that the amphiploid showed higher powdery mildew resistance than CS. However, chro-mosome addition lines DA2H and MA5H were highly susceptible to powdery mildew, indicating that major powdery mildew resistant genes of H. californicum should be located on chromosomes other than 2H and 5H.

  17. Screening and incorporation of rust resistance from Allium cepa into bunching onion (Allium fistulosum) via alien chromosome addition.

    Wako, Tadayuki; Yamashita, Ken-ichiro; Tsukazaki, Hikaru; Ohara, Takayoshi; Kojima, Akio; Yaguchi, Shigenori; Shimazaki, Satoshi; Midorikawa, Naoko; Sakai, Takako; Yamauchi, Naoki; Shigyo, Masayoshi

    2015-04-01

    Bunching onion (Allium fistulosum L.; 2n = 16), bulb onion (Allium cepa L. Common onion group), and shallot (Allium cepa L. Aggregatum group) cultivars were inoculated with rust fungus, Puccinia allii, isolated from bunching onion. Bulb onions and shallots are highly resistant to rust, suggesting they would serve as useful resources for breeding rust resistant bunching onions. To identify the A. cepa chromosome(s) related to rust resistance, a complete set of eight A. fistulosum - shallot monosomic alien addition lines (MAALs) were inoculated with P. allii. At the seedling stage, FF+1A showed a high level of resistance in controlled-environment experiments, suggesting that the genes related to rust resistance could be located on shallot chromosome 1A. While MAAL, multi-chromosome addition line, and hypoallotriploid adult plants did not exhibit strong resistance to rust. In contrast to the high resistance of shallot, the addition line FF+1A+5A showed reproducibly high levels of rust resistance.

  18. Chromosome studies in the aquatic monocots of Myanmar: A brief review with additional records

    Yu Ito

    2014-05-01

    Full Text Available Myanmar (Burma constitutes a significant component of the Indo-Myanmar biodiversity hotspot, with elements of the Indian, the Indochina, and the Sino-Japanese floristic regions, yet thus far only a few reliable sources of the country's flora have been available. As a part of a contribution for the floristic inventory of Myanmar, since it is important in a floristic survey to obtain as much information as possible, in addition to previous two reports, here we present three more chromosome counts in the aquatic monocots of Myanmar: Limnocharis flava with 2n = 20, Sagittaria trifolia with 2n = 22 (Alismataceae, and Potamogeton distinctus × P. nodosus with 2n = 52 (Potamogetonaceae; the third one is new to science. A brief review of cytological researches in the floristic regions' 45 non-hybrid aquatic monocots plus well investigated two inter-specific hybrids that are recorded in Myanmar is given, indicating that the further works with a focus on species in Myanmar that has infra-specific chromosome variation in the floristic regions will address the precise evolutionary history of the aquatic flora of Myanmar.

  19. Chromosome studies in the aquatic monocots of Myanmar: A brief review with additional records.

    Ito, Yu; Tanaka, Nobuyuki

    2014-01-01

    Myanmar (Burma) constitutes a significant component of the Indo-Myanmar biodiversity hotspot, with elements of the Indian, the Indochina, and the Sino-Japanese floristic regions, yet thus far only a few reliable sources of the country's flora have been available. As a part of a contribution for the floristic inventory of Myanmar, since it is important in a floristic survey to obtain as much information as possible, in addition to previous two reports, here we present three more chromosome counts in the aquatic monocots of Myanmar: Limnocharisflava with 2n = 20, Sagittariatrifolia with 2n = 22 (Alismataceae), and Potamogetondistinctus × Potamogetonnodosus with 2n = 52 (Potamogetonaceae); the third one is new to science. A brief review of cytological researches in the floristic regions' 45 non-hybrid aquatic monocots plus well investigated two inter-specific hybrids that are recorded in Myanmar is given, indicating that the further works with a focus on species in Myanmar that has infra-specific chromosome variation in the floristic regions will address the precise evolutionary history of the aquatic flora of Myanmar.

  20. Regional deletion and amplification on chromosome 6 in a uveal melanoma case without abnormalities on chromosomes 1p, 3 and 8.

    van Gils, Walter; Kilic, Emine; Brüggenwirth, Hennie T; Vaarwater, Jolanda; Verbiest, Michael M; Beverloo, Berna; van Til-Berg, Marjan E; Paridaens, Dion; Luyten, Gregorius P; de Klein, Annelies

    2008-02-01

    Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. Loss of the long arm and gain of the short arm of chromosome 6 are frequently observed chromosomal aberrations in UM, together with loss of chromosome 1p36, loss of chromosome 3 and gain of chromosome 8. This suggests the presence of one or more oncogenes on 6p and tumor suppressor genes at 6q that are involved in UM development. Both regions, however, have not been well defined yet. Furthermore in other neoplasms gain of 6p and loss of 6q are frequently occurring events. In this case report, we describe the delineation of a partial gain on chromosome 6p and a partial deletion on 6q in a UM with the objective to pinpoint smaller candidate regions on chromosome 6 involved in UM development. Conventional cytogenetics, comparative genomic hybridization (CGH) and fluorescence in-situ hybridization (FISH) were used to delineate regions of loss and gain on chromosome 6 in this UM patient. With conventional cytogenetics a deleted region was found on chromosome 6q that was further delineated to a region ranging from 6q16.1 to 6q22 using CGH and FISH. A region of gain from 6pter to 6p21.2 was also demarcated with CGH and FISH. No other deletions or amplifications on recurrently involved chromosomes were found in this patient. This study indicates the presence of one or more tumor suppressor genes on chromosomal region 6q16.1-6q22 and the presence of one or more oncogenes on chromosomal region 6pter-6p21.2, which are likely to be important in UM and other tumors.

  1. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

    Tan-Sindhunata, G; Castedo, S; Leegte, B; Mulder, [No Value; van der Veen, AYV; van der Hout, AHV; van Essen, AJ

    2000-01-01

    A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosom

  2. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype.

    Tan-Sindhunata, G; Castedo, S; Leegte, B; Mulder, I; vd Veen, A Y; vd Hout, A H; Wiersma, T J; van Essen, A J

    2000-05-15

    A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosome was derived from the pericentromeric region of chromosome 7. Further characterization with a YAC-probe showed the involvement of the proximal q-arm of chromosome 7. Both sibs had speech difficulties and were mildly mentally retarded whereas the mother's intelligence was at the lower end of the normal range. They all had an unusual face, characterized by a flat profile, short forehead, downslant of the palpebral fissures, high and broad nasal bridge, simply formed ears, and prognathia. This is the second report of a small supernumerary ring chromosome derived from the pericentromeric region of chromosome 7, and the described clinical phenotype differs from that delineated in the previous report.

  3. Identification of Novel Chromosomal Abnormalities, inv(5(p13q13 and t(7;18(q32;q21, Associated with Autism

    Zheng Chen

    2007-01-01

    Full Text Available Autism is a neurodevelopmental disorder defined by impairments in social interaction, communication, as well as restricted and stereotyped behaviors. While the etiology of autism remains largely unknown, the existence of genetic components has been clearly demonstrated in autistic pathogenesis. The incidence of autism is 50-100 fold greater in the population with autistic family history than the general population. Chromosomal abnormalities in 15q11-13 and 7q22-32 regions have been frequently detected in autistic patients. Abnormalities in other chromosomal regions, including 14q32.3 deletion and t(5;18(q33.1;q12.1 translocation, have also been reported. Despite these progresses, the exact genetic changes which underlie the disorder remain elusive. We report here two novel chromosomal abnormalities, an inversion inv(5(p13;q13 and a translocation t(7;18(q32;q21 in two autistic children. These findings may help to identify the candidate genes, whose aberrations may contribute to autistic pathogenesis.

  4. X microchromosome with additional chromosome anomalies found in Ullrich-Turner syndrome

    Wydner, K.L.; Sciorra, L.J. [Univ. of Medicine and Dentistry, New Brunswick, NJ (United States); Singer-Granick, C. [Hahnemann Univ., Philadelphia, PA (United States)] [and others

    1995-03-27

    Using standard cytogenetic methods coupled with molecular techniques, the following karyotype mos 45,X/46,XXq+/46,X-mar(X)/47,XXq+, +mar(X), was identified in a patient with Ullrich-Turner syndrome (UTS). High-resolution banding (n = 650) of the metaphase chromosomes yielded a breakpoint at q28 on the Xq+ rearranged chromosome. FISH was used to determine the presence of Y-containing DNA in the Xq+ and the mar(X) chromosomes. The following molecular probes were used: DYZ1, DYZ3, and spectrum orange WCP Y. The lack of specific hybridization of these probes was interpreted as a low risk of gonadoblastoma in this patient. Using X-chromosome- and centromere-specific probes, FISH demonstrated the presence of hybridizing material on both rearranged chromosomes, the Xq+ and mar(X). Finally, we determined that the mar(X) and Xq+ chromosomes contained telomeres in the absence of any interstitial telomeric hybridizing material. A micro-X chromosome is present in this UTS patient. Delineation of events leading toward the mechanisms responsible for the multiple DNA rearrangements required to generate the micro-X and Xq+ chromosomes awaits future studies. 25 refs., 6 figs., 1 tab.

  5. Chromosomal instability in meningiomas.

    van Tilborg, Angela A G; Al Allak, Bushra; Velthuizen, Sandra C J M; de Vries, Annie; Kros, Johan M; Avezaat, Cees J J; de Klein, Annelies; Beverloo, H Berna; Zwarthoff, Ellen C

    2005-04-01

    Approximately 60% of sporadic meningiomas are caused by inactivation of the NF2 tumor suppressor gene on chromosome 22. No causative gene is known for the remaining 40%. Cytogenetic analysis shows that meningiomas caused by inactivation of the NF2 gene can be divided into tumors that show monosomy 22 as the sole abnormality and tumors with a more complex karyotype. Meningiomas not caused by the NF2 gene usually have a diploid karyotype. Here we report that, besides the clonal chromosomal aberrations, the chromosome numbers in many meningiomas varied from one metaphase spread to the other, a feature that is indicative of chromosomal instability. Unexpectedly and regardless of genotype, a subgroup of tumors was observed with an average number of 44.9 chromosomes and little variation in the number of chromosomes per metaphase spread. In addition, a second subgroup was recognized with a hyperdiploid number of chromosomes (average 48.5) and considerable variation in numbers per metaphase. However, this numerical instability resulted in a clonal karyotype with chromosomal gains and losses in addition to loss of chromosome 22 only in meningiomas caused by inactivation of the NF2 gene. In cultured cells of all tumor groups, bi- and multinucleated cells were seen, as well as anaphase bridges, residual chromatid strings, multiple spindle poles, and unseparated chromatids, suggesting defects in the mitotic apparatus or kinetochore. Thus, we conclude that even a benign and slow-growing tumor like a meningioma displays chromosomal instability.

  6. 染色体核型异常患者全基因组芯片扫描结果分析%Analysis on the results of chromosomal microarray in patients with chromosome abnormality

    姚如恩; 傅启华; 余永国

    2014-01-01

    目的:利用全基因组芯片扫描技术对染色体核型检测结果异常的患者样本进行重复检测分析,验证并确认患者染色体的具体核型。方法利用基因分型芯片技术对9例临床表型皆为智力落后合并多发畸形,且核型结果异常的样本进行检测分析,比较两种技术之间结果相符程度,通过芯片平台结果来验证染色体核型技术的准确性,同时分析其临床适用性。结果染色体核型结果和全基因组芯片分析技术的结果完全符合的为2例Turner综合征患者,均为嵌合型;3例染色体核型结果阳性患者,全基因组芯片分析结果为阴性,其中2例为随体增加,1例为染色体内倒位;4例涉及染色体片段大小不同的缺失和复制的患者,核型结果和全基因组芯片结果差异较大,并且核型检测结果与患者实际核型相差较大。结论染色体核型技术在用于以往认定的适应症如智力落后、多发畸形的检测中,检测的准确性相对全基因组芯片技术较低,在明确定位染色体缺失和复制大小及位置的能力上有明显的不足,但对于检测染色体平衡性结构性变化的作用不能被芯片所取代。%Objective To analyze the results of patients with chromosome abnormality by chromosomal microarray, and validate and depict patient′s karyotype.Methods Genotyping array was applied to assess in 9 patients with hypophrenia and deformity.The samples with karyotype analysis abnormality were determined.Comparison between karyotyping and microarray analysis was considered to validate the clinical utility of chromosomal microarray analysis. Results Two Turner syndrome patients had completely concordant results from karyotype analysis and chromosomal microarray.Three patients showed abnormal karyotyping results (2 patients with excess trabant and 1 patients with chromosomal inversion) were detected negative with chromosomal microarray

  7. Analysis of embryo villi chromosomal abnormality in missed abortion%稽留流产胚胎绒毛染色体异常的分析研究

    任静; 张立军

    2014-01-01

    目的:探讨稽留流产与胚胎染色体异常之间的关系。方法在无菌条件下,采集87例首次稽留流产患者的胚胎绒毛,采用长期培养法制备绒毛染色体标本,进行绒毛320~400条带染色体分析。结果有84例绒毛染色体制备成功,绒毛培养的成功率为96.6%,其中发现核型异常45例(核型异常发生率为53.6%),染色体数目异常43例(染色体数目异常发生率为95.6%)。年龄≥35岁的患者核型异常的发生率为71.4%,<35岁的患者核型异常的发生率为44.6%,两者比较有显著性差异(χ2=5.385,P<0.05)。结论染色体数目异常是稽留流产的重要原因之一,尤其是≥35岁患者的染色体数目异常的发生率明显升高。绒毛染色体分析是稽留流产病因诊断的重要手段,可为再次生育提供优生指导依据。%Objective To explore the relationship between missed abortion and embryo chromosomal abnormality .Methods Under aseptic conditions , embryo villi of 87 cases of missed abortion for the first time were collected , and long-term culture of villi chromosome specimens was prepared for 320-400 banding chromosome analysis .Results Totally 84 cases of villi chromosome were successfully prepared , with the successful rate of 96.6%.There were 45 cases with abnormal karyotype ( incidence of 53.6%) and 43 cases with abnormal chromosome number (incidence of 95.6%).The incidence of abnormal karyotype in patients older than and equal to 35 was 71.4%, and that in patients younger than 35 was 44.6%.The difference was significant (χ2 =5.385,P<0.05).Conclusion Abnormal chromosome number is one of the important causes of missed abortion .The incidence of chromosome number abnormality is especially high in patients older than and equal to 35.Villi chromosome analysis is an important means of diagnosing missed abortion pathogeny , and it can provide basis for guidance of eugenics in birth

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

    林晓娟; 孙庆梅; 何晓春; 吴菊; 葛婷婷; 代维斯

    2016-01-01

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

  9. Chromosome abnormalities and Y chromosome microdeletions in patients with the azoospermia and cryptozoospermia%无精症及隐匿精子症患者染色体核型与Y染色体微缺失分析

    刘兴章; 唐运革; 郑立新; 周冰燚; 刘晃; 李铭臻; 唐立新; 文任乾

    2010-01-01

    目的 研究无精症和隐匿精子症染色体核型与Y染色体无精因子(azoospermia factor,AZF)微缺失的发生频率及其关系.方法 对997例无精症和隐匿精子症患者进行常规染色体核型分析及多重聚合酶链反应技术检测AZF位点.结果 在997例无精症和隐匿精子症患者中,染色体核型异常检出率28.4%,异常核型包括47,XXY、46,XY(Y<G)、46,XX、嵌合体及相互易位等.AZF微缺失总检出率17.4%.常见于46,XY及46,XY(Y<G)等核型.结论 染色体核型异常是无精症和隐匿精子症的重要遗传病因.正常核型与Y<G患者中存在较高的AZF微缺失率,对这些患者进行AZF微缺失检查有助于明确病因,避免一些不必要的临床治疗及遗传缺陷的垂直传递.%Objective To study the incidence of the chromosome abnormalities and Y chromosome microdeletions in Chinese patients with azoospermia and cryptozoospermia. Methods Conventional chromosomal karyotyping was used to analyze the chromosome abnormalities. Genomic DNA was extracted from peripheral blood samples and multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions. A total of 997 patients with azoospermia and cryptozoospermia were enrolled in the study. Results The incidence of chromosome abnormalities in the patient with azoospermia and cryptozoospermia was 28.4%. The major abnormal karyotypes included 47, XXY, 46, XY (Y < G), 46, XX, chimera and translocations. The incidence of the Y chromosome microdeletions was 17.4%. They were mainly found in the karyotypes of 46,XY and 46, XY (Y< G). Conclusion Chromosome abnormalities were the most common hereditary causes of the patients with azoospermia and cryptozoospermia. The incidence of Y chromosome microdeletion was higher in the patients with karyotype of 46 ,XY and 46 ,XY (Y<G). Therefore, detection of the AZF microdeletion in these patients is

  10. Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

    Guediche, N; Brisset, S; Benichou, J-J; Guérin, N; Mabboux, P; Maurin, M-L; Bas, C; Laroudie, M; Picone, O; Goldszmidt, D; Prévot, S; Labrune, P; Tachdjian, G

    2010-02-01

    The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.

  11. Incidence of chromosome abnormalities at a second-trimester genetic amniocentesis for Mainland Chinese women of advanced maternal age: a study of 6, 584 cases

    Qi Qing-wei; Jiang Yu-lin; Zhou Xi-ya; Liu Jun-tao; Bian Xu-ming

    2012-01-01

    Objective: The aim of this study was to calculate the expected incidence of chromosomal aneuploidy at second trimester genetic amniocentesis in Mainland China in women aged 35 and older.Methods: We reviewed the genetic amniocenteses data in Peking Union Medical College Hospital between January 2001 to June 2011.The indication for genetic amniocentesis was solely advanced maternal age (AMA).A total of 6,584 cases were included in this study.The AMA women was divided into two groups by maternal age,the group of 35-39 years old and the group of ≥40 years old.The incidence of fetal Down syndrome was compared between the two groups by chi-square test.Results: A total of 121 cases were diagnosed to be chromosomally abnormal,giving an overall incidence of 18.38‰ (121/6,584).The abnormal karyotypes included 111 cases of various aneuploidies and 10 cases with various structural abnormalities.The aneuploidies(mosaicism included)were 59 cases of (47,+ 21),25 cases of (47,+ 18),2 cases of (47,+ 13),8 cases of (45,X),3 cases of (47,XXX),13 cases of (47,XXY) and 1 case of (47,XYY).The karyotype of (47,+21) was the most frequent chromosomal abnormality,with an overall incidence of 8.96‰,account for 53.1% of all aneuploidies.Sex chromosome aneuploidies were the next most common,with a total incidence of 3.80‰.The incidence of fetal Down syndrome was significantly higher in the group of ≥40 years old than that of the group of 35-39 years old (P=0.047).Conclusions: The incidence of chromosomal aneuploidy found in this study is the first data published for Mainland China and will be helpful for the counseling of pregnant women in this age group.Consideration may be given to prenatal screening versus prenatal diagnosis in women of advanced maternal age in Mainland China.

  12. Discussion on relationship between chromosome hetermorphism and reproductive abnormality%染色体异态性与生殖异常关系的探讨

    邵敏杰; 高雪峰; 焦丽萍; 张小为; 乔杰

    2011-01-01

    Objective: To study the relationship between chromosome hetermorphisms and reproductive abnormalities. Methods:3300 patients with reproductive abnormality as case group, 3990 amniocentesis samples as the normal group. Chromosome analyses were done, and compared the results of two grops. Results: There were 256 patients with chromosome hetermorphisms among 3300 case groups, the frequence was 7.75%. 87 with chromosome hetermorphisms among 3990 amniocentesis samples and the frequency was 2. 23%. Y chromosome hetermorphisms is the most frequent type in both groups. Conclusion: The hetermorphism frequency of case group is three higher than control group, and chromosome hetermorphism frequency in men is higher than women. Azoospermia and oligospermia are the common clinical phenotype in men. Which indicate that chromosome hetermorphisms may be have an effect on human reproduct, which could interfere with male meiosis, eventually to infertility.%目的 探讨染色体异态性对生育异常患者的影响.方法 3300例存在生育问题的患者为病例组,3990例进行产前诊断的羊水染色体检查为对照组,分析两组染色体异态性的发生率,结合临床病史进行分析.结果 病例组3300例患者,发现256例存在染色体异态性,其发生率为7.75%.对照组3990例羊水标本,87例为多态染色体核型,发生率为2.23%(87/3990).病例组和对照组均以Y染色体变异最常见.结论 存在生育问题患者染色体异态性的发生率较对照组高三倍左右,男性染色体异态性的发生率高于女性患者,病例组多态患者中以少精子症和无精子症最常见.提示染色体异态性对人类生育可能存在一定的影响,尤其影响男性配子的减数分裂,最终导致不育.

  13. Association of Chromosomal Abnormalities and Fetus with Multiple Malformations%胎儿多发畸形与染色体异常的相关性分析

    谢英俊; 方群; 吴坚柱; 陈宝江; 陈健生; 陈筠虹; 陈争

    2011-01-01

    [目的]探讨多发畸形胎儿的产前诊断特征及其与染色体异常的关系.[方法]对853例产前诊断胎儿进行研究,根据超声检测检出多发畸形与否,分为多发畸形组(n=103)及非畸形组(对照组,n=750),行常规染色体核型分析;收集相关临床资料:分析胎儿畸形超声发现时期、畸形类别、畸形数目、染色体异常率和异常类型以及染色体异常与多发畸形的相关性.[结果]两组胎儿比较,染色体异常率(多发畸形组43.69%,对照组0.93%),性别比(多发畸形组1.94,对照组0.97),产前诊断孕周[多发畸形组(25±5)周,对照组(21±4)周],差异均有统计学意义(P<0.05).超声发现胎儿畸形数目越多,胎儿染色体异常的风险越大(r=0.792,P=0.017).多变量统计学分析的结果提示超声检出胎儿的面颈部异常(OR=7.748,P=0.000)、心血管系统异常(OR=5.064,P=0.002)、泌尿系统畸形(OR=0.195,P=0.005)、单脐动脉(OR=4.608,P=0.020)与多发畸形胎儿的染色体异常相关.[结论]多发畸形胎儿染色体异常率高;在超声对多发畸形胎儿检测中,胎儿的面颈部异常、心血管系统异常、单脐动脉可能可以作为胎儿染色体异常的预测指标.%[Objective] To investigate the multiple characteristics of fetal malformation in prenatal diagnosis and its relationship with chromosomal abnormalities. [Methods] A total of 853 cases were divided into multiple malformations group (n = 103) and nonmalformation group (control group,n = 750) according to ultrasound detected multiple malformations or not. Collecting clinical data:the discovery of fetal malformations time, the number of deformities, the abnormal types and rates of chromosome abnormalities and outcomes of karyotypes associated malformations. [ Results ] Comparing the results of two groups, the fetal chromosomal abnormality rate (multiple malformations group 43.69%, 0.93% in control group), the sex ratio (multiple malformations group 1

  14. Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

    Neitzel Heidemarie

    2010-03-01

    Full Text Available Abstract Background ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNA-methyltransferase 3B (DNMT3B. However, in the literature similar clinical cases without such mutations are reported, as well. Results We report on a family in which the unrelated spouses had two female siblings sharing similar phenotypic features resembling ICF-syndrome, i.e. congenital abnormalities, immunodeficiency, developmental delay and high level of chromosomal instability, including high frequency of centromeric/pericentromeric rearrangements and breaks, chromosomal fragments despiralization or pulverization. However, mutations in DNMT3B could not be detected. Conclusion The discovery of a new so-called 'chromatin disorder' is suggested. Clinical, molecular genetic and cytogenetic characteristics are reported and compared to other 'chromatin disorders'.

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

    黄鑫; 张磊; 郭云霄; 赵跃然

    2016-01-01

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

  16. Chromosomal abnormalities with male infertility%染色体异常与男性不育关系的研究

    董媛; 姜雨婷; 杜日成; 武婧; 李磊磊; 刘睿智

    2013-01-01

    目的 探讨不同类型染色体异常对男性不育的影响. 方法 对2006年5月至2012年5月吉林大学第一医院生殖医学中心进行遗传咨询的2034例男性不育患者行染色体检查,同时行精液常规检查和生殖激素检测. 结果 2034例男性不育患者中检出染色体核型异常267例,检出率为13.13%.267例患者中行精液常规检查258例,其中无精子症190例,少精子症58例,精液正常10例.267例患者包括染色体数目异常169例(63.30%),以无精子症为主,其中克氏综合征157例(58.80%),超雄综合征7例(2.62%),特纳综合征4例(1.50%),mar染色体1例(0.37%);结构异常49例(18.35%),以少精子症为主,其中染色体易位32例(11.99%),倒位17例(6.37%);性反转4例(1.50%),均为无精子症;染色体多态45例(16.85%),以少精子症为主.对不同精液结果的非嵌合型克氏综合征患者年龄、睾丸体积、精液量及血清生殖激素进行比较,仅年龄差异有统计学意义(P<0.05). 结论 染色体异常是造成男性精液异常、导致男性不育的重要遗传学病因,对男性不育患者行染色体检查是必要的.%Objective To describe different types of chromosomal abnormalities on male infertility.Methods From May 2006 to May 2012,2034 infertile males with genetic counseling underwent chromosome karyotype analysis,semen routine examination and reproductive hormones levels detection.The data from them were analyzed.Results 267 cases of chromosomal abnormalities were detected in 2034 cases (13.13%).258 cases underwent semen routine examination in 267 cases with chromosomal abnormalities,of which 190 cases of azoospermia,58 cases of oligozoospermia,10 cases of semen normal.In 267 cases of chromosomal abnormalities,including 169 cases (63.30%) of number abnormalities,mainly with azoospermia,157 cases of Klinefelter syndrome (KS) (58.80%),7 cases of 47,XYY (2.62%),4 cases of Turner syndrome (1.50%),1 case of

  17. Additional support for schizophrenia linkage on chromosomes 6 and 8 : A multicenter study

    Levinson, DF; Wildenauer, DB; Schwab, SG; Albus, M; Hallmayer, J; Lerer, B; Maier, W; Blackwood, D; Muir, W; StClair, D; Morris, S; Moises, HW; Yang, L; Kristbjarnarson, H; Helgason, T; Wiese, C; Collier, DA; Holmans, P; Daniels, J; Rees, M; Asherson, P; Roberts, Q; Cardno, A; Arranz, MJ; Vallada, H; McGuffin, D; Owen, MJ; Pulver, AE; Antonarakis, SE; Babb, R; Blouin, JL; DeMarchi, N; Dombroski, B; Housman, D; Karayiorgou, M; Ott, J; Kasch, L; Kazazian, H; Lasseter, VK; Loetscher, E; Luebbert, H; Nestadt, G; Ton, C; Wolyniec, PS; Laurent, C; deChaldee, M; Thibaut, F; Jay, M; Samolyk, D; Petit, M; Campion, D; Mallet, J; Straub, RE; MacLean, CJ; Easter, SM; ONeill, FA; Walsh, D; Kendler, KS; Gejman, PV; Gershon, E; Badner, J; Beshah, E; Zhang, J; Riley, BP; Rajagopalan, S; MogudiCarter, M; Jenkins, T; Williamson, R; DeLisi, LE; Garner, C; Kelly, M; LeDuc, C; Cardon, L; Lichter, J; Harris, T; Loftus, J; Shields, G; Comasi, M; Vita, A; Smith, A; Dann, J; Joslyn, G; Gurling, H; Kalsi, G; Brynjolfsson, J; Curtis, D; Sigmundsson, T; Butler, R; Read, T; Murphy, P; Chen, ACH; Petursson, H; Byerley, B; Hoff, M; Holik, J; Coon, H; Nancarrow, DJ; Crowe, RR; Andreasen, N; Silverman, JM; Mohs, RC; Siever, LJ; Endicott, J; Sharpe, L; Lennon, DP; Hayward, NK; Sandkuijl, LA; Mowry, BJ; Aschauer, HN; Meszaros, K; Lenzinger, E; Fuchs, K; Heiden, AM; Kruglyak, L; Daly, MJ; Matise, TC

    1996-01-01

    In response to reported schizophrenia linkage findings on chromosomes 3, 6 and 8, fourteen research groups genotyped 14 microsatellite markers in an unbiased, collaborative (New) sample of 403-567 informative pedigrees per marker, and in the Original sample which produced each finding (the Johns Hop

  18. Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

    Adam C Naj

    2010-09-01

    Full Text Available Genome-wide association studies (GWAS of late-onset Alzheimer disease (LOAD have consistently observed strong evidence of association with polymorphisms in APOE. However, until recently, variants at few other loci with statistically significant associations have replicated across studies. The present study combines data on 483,399 single nucleotide polymorphisms (SNPs from a previously reported GWAS of 492 LOAD cases and 496 controls and from an independent set of 439 LOAD cases and 608 controls to strengthen power to identify novel genetic association signals. Associations exceeding the experiment-wide significance threshold (alpha=1.03x10(-7 were replicated in an additional 1,338 cases and 2,003 controls. As expected, these analyses unequivocally confirmed APOE's risk effect (rs2075650, P=1.9x10(-36. Additionally, the SNP rs11754661 at 151.2 Mb of chromosome 6q25.1 in the gene MTHFD1L (which encodes the methylenetetrahydrofolate dehydrogenase (NADP+ dependent 1-like protein was significantly associated with LOAD (P=4.70x10(-8; Bonferroni-corrected P=0.022. Subsequent genotyping of SNPs in high linkage disequilibrium (r2>0.8 with rs11754661 identified statistically significant associations in multiple SNPs (rs803424, P=0.016; rs2073067, P=0.03; rs2072064, P=0.035, reducing the likelihood of association due to genotyping error. In the replication case-control set, we observed an association of rs11754661 in the same direction as the previous association at P=0.002 (P=1.90x10(-10 in combined analysis of discovery and replication sets, with associations of similar statistical significance at several adjacent SNPs (rs17349743, P=0.005; rs803422, P=0.004. In summary, we observed and replicated a novel statistically significant association in MTHFD1L, a gene involved in the tetrahydrofolate synthesis pathway. This finding is noteworthy, as MTHFD1L may play a role in the generation of methionine from homocysteine and influence homocysteine

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

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

    2009-01-01

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

  20. [Additional phragmoplast corrects abnormal cytokinesis in wheat x rye hybrid pollen mother cells].

    Gordeeva, E I; Shamina, N V; Dudka, L F; Kovtunenko, V Ia; Bolobolova, E U

    2009-01-01

    The phragmoplast dysfunction in wheat x rye hybrid F1 male meiosis has been described. The pollen mother cells (PMCs) show the phenotype where transition from central spindle fibers (forming a solid bundle) to a phragmoplast (hollow cylinder) is blocked. The blockade suppresses centrifugal movement of the phragmoplast and cell plate formation. The resulting cells occur to be binucleate. Sometimes, the two nuclei join and form one restitution nucleus. PMCs of wheat x rye F1 hybrid N D-144gp 06r. F1 (T. aestivum c. 93-60 T 9 x S. cereale c. Saratovskaya 7) showing this phenotype have an additional phragmoplast at late telophase. This happens like that in the case of immobile phragmoplast formation in meiosis in bicotyledons: the new phragmoplast arises by the aid of microtubules polymerization starting from the spindle poles. The new additional phragmoplast builds a new cell plate and accomplishes cytokinesis.

  1. 中孕期染色体非整倍体异常胎儿的超声表现分析%Analysis on the ultrasonic manifestations of fetuses with chromosomal aneuploidy abnormality in second trimester of pregnancy

    田晓先; 梁洁梅; 黎新艳; 林莲恩; 李雪芹

    2011-01-01

    目的:分析胎儿染色体异常中孕期超声表现,为胎儿染色体的异常诊断提供线索.方法:回顾性分析49例胎儿染色体异常的中孕期超声表现.结果:49例胎儿非整倍体患者中42例有异常超声表现,30例为超声形态结构异常,18例发现超声软指标,其中6例合并结构异常,7例超声未见明显异常.结论:大部分非整倍体胎儿中孕期可有异常的超声表现.包括形态学和软指标上的异常.提示当胎儿中孕期有异常的超声表现时,应考虑染色体异常的可能性,并提供相应的遗传学咨询.%Objective: To analyze the ultrasonic manifestations of fetuses with chromosomal abnormality in second trimester of pregnancy, provide some clues for the diagnosis of fetal chromosomal abnormality.Methods: The ultrasonic manifestations of 49 fetuses with chromosomal abnormality in second trimester-of pregnancy were analyzed retrospectively.Results: Among 49 fetuses with chromosomal aneuploidy abnormality, 72 fetuses were found with abnormal ultrasonic manifestations, 30 fetuses were found with abnormal morphology and structure, 18 fetuses were found with ultrasonic soft indexes, 6 fetuses were combined with abnormal structure, 7 fetuses were not found with apparent abnormality.Conclusion: Most of the fetuses with chromosomal aneuploidy abnormality in second trimester of pregnancy have abnormal ultrasonic manifestations, including morphological abnormality and abnormal soft indexes, the phenomenon indicates that the possibility of chromosomal abnormality should be considered and corresponding genetic consultation should be provided when the fetuses are found with abnormal ultrasonic manifestations.

  2. Anormalidades cromossômicas em casais com história de aborto recorrente Chromosomal abnormalities in couples with history of recurrent abortion

    Andrea Kiss

    2009-02-01

    Full Text Available OBJETIVO: verificar a prevalência e as características clínicas de casais com história de abortos de repetição e anormalidade cromossômica atendidos em nosso serviço. MÉTODOS: foram avaliados retrospectivamente todos os casais encaminhados de janeiro de 1975 a junho de 2008 por história de abortos de repetição. Foram incluídos no estudo somente aqueles casais, em que a análise cromossômica feita com o cariótipo por bandas GTG foi realizada com sucesso. Foram coletados dados clínicos referentes às suas idades, bem como o número de abortamentos, natimortos, crianças polimalformadas, nativivos por casal e resultado do exame de cariótipo. Para comparação da frequência das alterações cromossômicas encontradas em nosso estudo com as da literatura, bem como entre os diferentes subgrupos de nossa amostra, foi utilizado o teste exato de Fisher (pPURPOSE: to asses the prevalence and clinical characteristics of couples with history of recurrent spontaneous abortion and chromosome abnormality, attended at the present service. METHODS: all the couples referred to our service due to history of recurrent spontaneous abortion, from January 1975 to June 2008, were evaluated. Only the ones whose chromosome karyotype analysis by GTG bands has been successfully made were included in the study. Clinical data on their age, as well as on the number of abortions, stillbirth, multiple malformations, livebirth per couple, and the result of the karyotype exam were collected. Fisher's exact test (p<0.05 has been used to compare the incidence of chromosome alterations found in our study, with data in the literature. RESULTS: there were 108 couples in the sample. Their ages varied from 21 to 58 years old among the men (average of 31.4 years old, and from 19 to 43 among the women (average of 29.9 years old. In ten couples, one of the mates (9.3% presented chromosome alterations, which corresponded respectively to three cases (30% of reciprocal

  3. Correlation study of prenatal ultrasound screening system and fetal chromosomal abnormalities%产前系统超声筛查与胎儿染色体异常的相关性研究

    刘智霞

    2015-01-01

    Objective To investigate the correlation of prenatal ultrasound screening system with fetal chromosom-al abnormalities.Methods From July 2013 to July 2014, 115 cases of prenatal ultrasound screening system abnormal sit-uation were selected , invasive prenatal testing was given and chromosome karyotype was analyzed , correlation of ultrasound abnormalities with chromosomal abnormalities were analyzed .Results One hundred and fifteen cases of maternal abnormal ultrasound underwent amniocentesis or umbilical vein by karyotype analysis , chromosomal abnormalities in 28 cases were detecleal among 81 cases of severe abnormal maternal ultrasound , 4 cases of minor cases did not appear abnormal chromo-somal abnormalities, there were significant differences in the incidence of abnormalities of the two groups (P<0.05), the incidence of chromosomal abnormalities reached 45.95% when the fetal congenital heart disease with cardiac malforma-tions.Conclusions Prenatal ultrasound screening system can be found most of the abnormal development of the fetus , which provides a reliable basis for further invasive diagnostic line .%目的 探讨产前系统超声筛查与胎儿染色体异常的相关性. 方法 选择2013年7月至2014年7月行产前系统超声筛查出现异常情况的中晚孕期产妇115例,经产妇同意与产前咨询后,予以侵入性的产前检查并分析染色体的核型,分析超声异常表现与染色体异常的相关性. 结果 115例超声检查出现异常的产妇均接受脐静脉或羊水穿刺,经染色体核型的分析,81例超声检查严重异常产妇检出染色体异常28例,4例微小异常病例未出现染色体异常,两组染色体异常发病率比较差异有统计学意义(P<0.05),当胎儿先心病合并心外畸形时染色体异常发病率达到45.95%. 结论 产前系统超声筛查能发现大部分的胎儿异常发育,从而为进一步行侵入性诊断提供可靠依据.

  4. Molecular abnormalities in pediatric embryonal brain tumors--analysis of loss of heterozygosity on chromosomes 1, 5, 9, 10, 11, 16, 17 and 22.

    Zakrzewska, M; Rieske, P; Debiec-Rychter, M; Zakrzewski, K; Polis, L; Fiks, T; Liberski, P P

    2004-01-01

    Embryonal tumors, the most common group of malignant brain tumors in childhood, are heterogeneous and have been associated with a large number of genetic abnormalities. The aim of this study was to comprehensively analyze loss of heterozygosity (LOH) on regions harboring suppressor genes (PTCH2, PTCH1, APC, PTEN, DMBT1, SUFU, AXIN1, hSNF5/INI1) and to study chromosomal regions in which deletions have been described most frequently (1p, 1q, 11p, 16p, 17p). Twenty-nine children (17 male and 12 female), aged from 1 year 13 years were included in this study. There were 24 medulloblastomas (MB) and 5 supratentorial primitive neuroectodermal tumors (sPNET). Tissue samples from 29 primary and 11 recurrent tumors were analyzed according to the LOH standard procedures, which were extended to include fluorescence in situ hybridization for detection of isochromosome 17q (i(17q)) and direct sequencing ofTP53 exon 4. LOH on 17p was found in 15 out of 29 tumors. FISH analysis identified the presence of i(17q) in 16 tumors. Comparison of LOH analysis and the FISH data indicated that alterations of 17p were related to be the introduction of an i(17q) formation. LOH on 10q and 9q was observed in 4 and 2 cases, respectively, and was associated with alterations of chromosome 17. These results indicated a connection between alterations of PTCH/SHH genes and abnormalities of chromosome 17. A deleted region on 22q, covering the hSNF5/INI1 locus, was observed in 3 tumors. Progression of the molecular changes occurred in 1 case of recurrent medulloblastoma. LOH on 10q and 17p was found in both primary and recurrent tumor, while losses on 11p, 16p, and 16q occurred only in the recurrent tumor. No evidence of alteration in TP53 exon 4 was identified.

  5. 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

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

  6. Chondromyxoid fibroma of rib with a novel chromosomal translocation: a report of four additional cases at unusual sites

    Parwani Anil V

    2007-11-01

    Full Text Available Abstract Background Chondromyxoid fibromas (CMFs are rare benign chondroid/myxoid matrix-producing tumors that occur in metaphyses of long tubular bones, and very rarely in small bones of hands and feet. Flat bone involvement is even more uncommon. Prior cytogenetic analyses have identified complex abnormalities involving chromosome 6 in the majority of cases. Methods A search for CMF over an 8-year period (1999–2006 from the surgical pathology files of our institution yielded 16 cases. Four cases occurred in relatively unusual regions, three from the small bones of distal extremities and one from the rib. The rib lesion wassubmitted forroutinecytogenetic analysis. Results Radiographic studies revealed that all four lesions were well-defined expansile radiolucent lesions which expanded the bony cortices with lobulated margins, sclerotic rim, septation, and no calcification. Morphologically, all four lesions showed typical features of CMF and had low proliferative index with Ki-67. Cytogenetic analysis on the rib lesion revealed a novel chromosomal translocation, t(1;5(p13;p13. None of the four patients had a recurrence after a mean duration of follow-up of 24 months. Conclusion CMF originating in unusual locations should be distinguished from chondrosarcomas, especially on small biopsies, and should be included in the differential diagnosis. As previously noted in the literature, the cells can be positive for actin but unlike conventional chondroid neoplasms can be negative for S-100. To our knowledge, this is the first report describing a novel chromosomal translocation, t(1;5(p13;p13 in CMF.

  7. Induction of mitotic and chromosomal abnormalities on Allium cepa cells by pesticides imidacloprid and sulfentrazone and the mixture of them.

    Bianchi, Jaqueline; Fernandes, Thais Cristina Casimiro; Marin-Morales, Maria Aparecida

    2016-02-01

    To evaluate the cytotoxic and genotoxic effects of low concentrations of pesticides in non-target organisms, seeds of Allium cepa were exposed for 24 h to the imidacloprid insecticide, sulfentrazone herbicide and to the mixture of them, followed by recovery periods of 48 and 72 h. Imidacloprid results indicated an indirect genotoxic effect by inducing different types of chromosome aberration (CA), mainly bridges and chromosomal adherences. Cells with micronucleus (MN) were not significant in the analyzed meristems. Moreover, the 72-h recovery tests indicated that the two lower concentrations of the insecticide (0.036 and 0.36 g L(-1)) had their genotoxic effects minimized after discontinuation of treatment, differently to the observed for the field concentration (3.6 g L(-1)). Sulfentrazone herbicide at field concentration (6 g L(-1)) caused cytotoxic effects by inducing nuclear fragmentation and inhibition of cell division. The other concentrations (0.06, 0.6 and 1.2 g L(-1)) indicated genotoxic effects for this herbicide. The concentration of 0.06 g L(-1) induced persistent effects that could be visualized both by the induction of CA in the recovery times as by the presence of MN in meristematic and F1 cells. The induction of MN by this lowest concentration was associated with the great amount of breakage, losses and chromosomal bridges. The mixture of pesticides induced genotoxic and cytotoxic effects, by reducing the MI of the cells. The chromosomal damage induced by the mixture of pesticides was not persistent to the cells, since such damage was minimized 72 h after the interruption of the exposure.

  8. Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata.

    Sireteanu, A; Voloşciuc, M; Grămescu, M; Gorduza, Ev; Vulpoi, C; Frunză, I; Rusu, C

    2013-12-01

    We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array showed a terminal deletion of approximately 10.24 Mb, from 18p11.32 to 18p11.22, flanked by a duplication of approximately 1.15 Mb, from 18p11.22 to 18p11.21. In addition, the SNP array revealed a duplication of 516 kb in 16p11.2. We correlated the patient's clinical findings with the features mentioned in the literature for these copy number variations. This case study shows the importance of microarray analysis in the detection of cryptic chromosomal rearrangements in patients with intellectual disability and multiple congenital anomalies.

  9. Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening

    Amy Metcalfe

    2014-04-01

    Full Text Available Prenatal screening is often misconstrued by patients as screening for trisomy 21 alone; however, other chromosomal anomalies are often detected. This study aimed to systematically review the literature and use diagnostic meta-analysis to derive pooled detection and false positive rates for aneuploidies other than trisomy 21 with different prenatal screening tests. Non-invasive prenatal testing had the highest detection (DR and lowest false positive (FPR rates for trisomy 13 (DR: 90.3%; FPR: 0.2%, trisomy 18 (DR: 98.1%; FPR: 0.2%, and 45,X (DR: 92.2%; FPR: 0.1%; however, most estimates came from high-risk samples. The first trimester combined test also had high DRs for all conditions studied (trisomy 13 DR: 83.1%; FPR: 4.4%; trisomy 18 DR: 91.9%; FPR: 3.5%; 45,X DR: 70.1%; FPR: 5.4%; triploidy DR: 100%; FPR: 6.3%. Second trimester triple screening had the lowest DRs and highest FPRs for all conditions (trisomy 13 DR: 43.9%; FPR: 8.1%; trisomy 18 DR: 70.5%; FPR: 3.3%; 45,X DR: 77.2%; FPR: 9.3%. Prenatal screening tests differ in their ability to accurately detect chromosomal anomalies. Patients should be counseled about the ability of prenatal screening to detect anomalies other than trisomy 21 prior to undergoing screening.

  10. [Distribution of abnormal cell clone with deletion of chromosome 20q in marrow cell lineages and apoptosis cells in myelodysplastic syndrome].

    Qin, Ling; Wang, Chun; Qin, You-Wen; Xie, Kuang-Cheng; Yan, Shi-Ke; Gao, Yan-Rong; Wang, Xiao-Rui; Zhao, Chu-Xian

    2008-06-01

    This study was aimed to investigate the distribution of abnormal clone in marrow cell lineages and apoptosis cells in myelodysplastic syndrome (MDS) with deletion of chromosome 20q. Monoclonal antibodies recognizing myeloid precursors (CD15), erythroid precursors (GPA), T cells (CD3(+)CD56(-)CD16(-)), B cells (CD19), NK cells (CD3(-)CD56(+)CD16(+)) were used to sort bone marrow cells in a MDS patient with del (20q) by fluorescence activated cell sorting (FACS). Annexin V-FITC and PI were used to sort bone marrow Annexin V(+)PI(-) and Annexin V(-)PI(-) cells by FACS. The sorted positive cells were detected by interphase dual-color fluorescence in situ hybridization (D-FISH) using a LSI D20S108 probe (Spectrum Orange) and a Telvysion TM 20p probe (Spectrum Green). FACS and FISH analysis were also performed on the samples from 4 cases with normal karyotype. The results showed that the proportions of MDS clone in the myeloid and erythroid precursors were 70.50% and 93.33% respectively, in the RAEB-1 patient with del (20q) and were obviously higher than that in control group (5.39% and 6.17%). The proportions of abnormal clone in T, B and NK cells were 3.23%, 4.32% and 5.77% respectively and were less than that in control group (5.76%, 4.85%, 6.36%). The percentage of apoptotic cells in the bone marrow nucleated cells was 16.09%. The proportions of MDS clone in Annexin V(+)PI(-) and Annexin V(-)PI(-) cells were 32.48% and 70.11%, respectively. It is concluded that most myeloid and erythroid precursors are originated from the abnormal clone in MDS with del (20q). A little part of apoptotic cells are derived from the abnormal clone.

  11. Structural chromosome abnormalities, increased DNA strand breaks and DNA strand break repair deficiency in dermal fibroblasts from old female human donors.

    Kalfalah, Faiza; Seggewiß, Sabine; Walter, Regina; Tigges, Julia; Moreno-Villanueva, María; Bürkle, Alexander; Ohse, Sebastian; Busch, Hauke; Boerries, Melanie; Hildebrandt, Barbara; Royer-Pokora, Brigitte; Boege, Fritz

    2015-02-01

    Dermal fibroblasts provide a paradigmatic model of cellular adaptation to long-term exogenous stress and ageing processes driven thereby. Here we addressed whether fibroblast ageing analysedex vivo entails genome instability. Dermal fibroblasts from human female donors aged 20-67 years were studied in primary culture at low population doubling. Under these conditions, the incidence of replicative senescence and rates of age-correlated telomere shortening were insignificant. Genome-wide gene expression analysis revealed age-related impairment of mitosis, telomere and chromosome maintenance and induction of genes associated with DNA repair and non-homologous end-joining, most notably XRCC4 and ligase 4. We observed an age-correlated drop in proliferative capacity and age-correlated increases in heterochromatin marks, structural chromosome abnormalities (deletions, translocations and chromatid breaks), DNA strand breaks and histone H2AX-phosphorylation. In a third of the cells from old and middle-aged donors repair of X-ray induced DNA strand breaks was impaired despite up-regulation of DNA repair genes. The distinct phenotype of genome instability, increased heterochromatinisation and (in 30% of the cases futile) up-regulation of DNA repair genes was stably maintained over several cell passages indicating that it represents a feature of geroconversion that is distinct from cellular senescence, as it does not encompass a block of proliferation.

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

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

    1985-02-01

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

  13. A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. presentation of three cases.

    Kaluzewski, B; Jokinen, A; Hortling, H; de la Chapelle, A

    1978-03-01

    Three patients with male habitus, short stature and testicular differentiation are described. All had mos 45,X/46,XY, the ratio of the two stemlines varying between the patients and between different tissues. The Y chromosome was abnormal, lacking the brilliant QFQ fluorescence and dark CGB staining characteristic of the distal part of the normal Y. Detailed banding studies suggested that the short arm and proximal part of the long arm were normal, while the distal part of the long arm was molecularly or otherwise altered, resulting in abnormal staining properties. Two of the patients were tested for H-Y antigen and found to be positive. These data and those collected from the literature are compatible with a model in which the primary lesion in X/XY mosaicism is a molecular alteration in the reiterated Y-specific DNA sequences (and possibly neighbouring sequences) of a 46,XY zygote resulting in the frequent mitotic loss of the Y and the emergence of a 45,X line. Provided the testis-determining gene(s) near the centromere are normal, testes are formed and the patient is H-Y antigen-positive. The extent of male or female differentiation depends in part on the prevalence, time of occurence, and distribution of the 45,X line and possibly in part on the alteration of other genes involved in sex differentiation and located on Yq further from the centromere.

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

    R.F. Pinheiro

    2009-11-01

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

  15. Molecular Cytogenetic Identification of a New Wheat-Rye 6R Chromosome Disomic Addition Line with Powdery Mildew Resistance.

    Diaoguo An

    Full Text Available Rye (Secale cereale L. possesses many valuable genes that can be used for improving disease resistance, yield and environment adaptation of wheat (Triticum aestivum L.. However, the documented resistance stocks derived from rye is faced severe challenge due to the variation of virulent isolates in the pathogen populations. Therefore, it is necessary to develop desirable germplasm and search for novel resistance gene sources against constantly accumulated variation of the virulent isolates. In the present study, a new wheat-rye line designated as WR49-1 was produced through distant hybridization and chromosome engineering protocols between common wheat cultivar Xiaoyan 6 and rye cultivar German White. Using sequential GISH (genomic in situ hybridization, mc-FISH (multicolor fluorescence in situ hybridization, mc-GISH (multicolor GISH and EST (expressed sequence tag-based marker analysis, WR49-1 was proved to be a new wheat-rye 6R disomic addition line. As expected, WR49-1 showed high levels of resistance to wheat powdery mildew (Blumeria graminis f. sp. tritici, Bgt pathogens prevalent in China at the adult growth stage and 19 of 23 Bgt isolates tested at the seedling stage. According to its reaction pattern to different Bgt isolates, WR49-1 may possess new resistance gene(s for powdery mildew, which differed from the documented powdery mildew gene, including Pm20 on chromosome arm 6RL of rye. Additionally, WR49-1 was cytologically stable, had improved agronomic characteristics and therefore could serve as an important bridge for wheat breeding and chromosome engineering.

  16. Pericentric inversion of chromosome 11 (p14.3q21) associated with developmental delays, hypopigmented skin lesions and abnormal brain MRI findings - a new case report

    Zachor, D.A.; Lofton, M. [Univ. of Alabama, Birmingham (United States)

    1994-09-01

    We report 3 year old male, referred for evaluation of developmental delays. Pregnancy was complicated by oligohydramnios, proteinuria and prematurity. Medical history revealed: bilateral inguinal hernia, small scrotal sac, undescended testes, developmental delays and behavioral problems. The child had: microcephaly, facial dysmorphic features, single palmar creases, hypopigmented skin lesions of variable size, intermittent exotropia and small retracted testes. Neurological examination was normal. Cognitive level was at the average range with mild delay in his adaptive behavior. Expressive language delays and severe articulation disorder were noted, as well as clumsiness, poor control and precision of gross and fine motor skills. Chromosomal analysis of peripheral leukocytes indicated that one of the number 11 chromosomes had undergone a pericentric inversion with breakpoints on the short (p) arm at band p14.3 and the long (q) arm at band q21. An MRI of the brain showed mild delay in myelinization pattern of white matter. Chromosome 11 inversion in other sites was associated with Beckwith-Wiedemann syndrome and several malignancies. To our knowledge this is the first description of inv(11)(p14.3q21) that is associated with microcephaly, dysmorphic features, hypopigmented skin lesions and speech delay. This inversion may disrupt the expression of the involved genes. However, additional cases with the same cytogenetic anomaly are needed to explore the phenotypic significance of this disorder.

  17. A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

    Carolina Sismani

    2015-01-01

    Full Text Available Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included in the deletions. In the present case, ultrasonography at 22 weeks of gestation revealed choroid plexus cysts (CPCs and a single umbilical artery (SUA and therefore amniocentesis was performed. Chromosomal analysis revealed a possible terminal deletion in 1q and high resolution array CGH confirmed the terminal 1q43q44 deletion and estimated the size to be approximately 8 Mb. Following termination of pregnancy, performance of fetopsy allowed further clinical characterization. We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized. In addition, to our knowledge this is the first prenatal case reported with 1q13q44 terminal deletion and Pierre-Robin sequence (PRS. Our findings combined with review data from the literature show the complexity of the genetic basis of the associated syndrome.

  18. The analysis of advanced age pregnancy and Down′s screening for fetal chromosomal abnormalities in the prenatal%高龄妊娠与唐氏筛查高风险的产前诊断染色体异常分析

    胡丹; 李海军; 李志华; 陈敏; 孙筱放

    2015-01-01

    Objective To explore if the high‐risk of Down′s screening can predict the fetal chromosomal abnormalities for the advanced age pregnant women ,provide a scientific basis for the advanced age pregnant women to select the Down′s screening .Meth‐ods Reviewed the patients which had the indications of prenatal diagnostic because of advanced age and the high‐risk of Down′s screening from January 2010 to June 2013 ,a total of 2 335 cases .All the maternal age were ≥35 years old and the average age was 37 .43 ± 2 .93 .All the cases were carried out karyotype analysis that the samples were from amniotic fluid ,umbilical cord blood or villus ,the training success rate is 99 .5% .Results We found 177 cases abnormal fetal chromosome in the 2 335 cases advanced age women ,the abnormal rate is 7 .58% .The greater the age ,the higher of the chromosomal abnormalities rate in the unusual cases .In addition to chromosomal polymorphism ,the trisomy of the chromosome and inversions between chromosome arms are the most common chromosomal abnormalities .Conclusion Conducted the Down′s screening in the advanced age women can improve the screening rates of the fetal chromosomal abnormalities .It is necessary for the high‐risk of Down′s screening in advanced age preg‐nant women to have the prenatal diagnosis to investigate the fetal chromosomal abnormalities .%目的:探讨唐氏筛查高风险对高龄妊娠染色体异常是否具有预测意义,为高龄孕妇选择唐氏筛查筛选染色体异常提供科学依据。方法回顾该院2010年1月至2013年6月因高龄妊娠唐氏筛查高风险有产前诊断指征前来咨询的病例共2335例,所有孕妇年龄均大于或等于35岁,平均(37.43±2.93)岁。病例均进行了羊水或脐带血细胞绒毛培养染色体核型分析,培养成功率99.5%,然后对染色体核型结果进行分析。结果2335例高龄孕妇中产前诊断染色体结果异常的共有177

  19. 766对不良孕育史夫妇外周血染色体核型分析%766 of abnormal pregnancy couples chromosome karyotype analysis of the peripheral blood

    李春艳; 李卫凯; 梁齐合; 谢志威; 刘健婷

    2015-01-01

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

  20. White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging

    Villalon, Julio; Jahanshad, Neda; Beaton, Elliott; Toga, Arthur W.; Thompson, Paul M.; Simon, Tony J.

    2014-01-01

    Children with chromosome 22q11.2 Deletion Syndrome (22q11.2DS), Fragile X Syndrome (FXS), or Turner Syndrome (TS) are considered to belong to distinct genetic groups, as each disorder is caused by separate genetic alterations. Even so, they have similar cognitive and behavioral dysfunctions, particularly in visuospatial and numerical abilities. To assess evidence for common underlying neural microstructural alterations, we set out to determine whether these groups have partially overlapping white matter abnormalities, relative to typically developing controls. We scanned 101 female children between 7 and 14 years old: 25 with 22q11.2DS, 18 with FXS, 17 with TS, and 41 aged-matched controls using diffusion tensor imaging (DTI). Anisotropy and diffusivity measures were calculated and all brain scans were nonlinearly aligned to population and site-specific templates. We performed voxel-based statistical comparisons of the DTI-derived metrics between each disease group and the controls, while adjusting for age. Girls with 22q11.2DS showed lower fractional anisotropy (FA) than controls in the association fibers of the superior and inferior longitudinal fasciculi, the splenium of the corpus callosum, and the corticospinal tract. FA was abnormally lower in girls with FXS in the posterior limbs of the internal capsule, posterior thalami, and precentral gyrus. Girls with TS had lower FA in the inferior longitudinal fasciculus, right internal capsule and left cerebellar peduncle. Partially overlapping neurodevelopmental anomalies were detected in all three neurogenetic disorders. Altered white matter integrity in the superior and inferior longitudinal fasciculi and thalamic to frontal tracts may contribute to the behavioral characteristics of all of these disorders. PMID:23602925

  1. 120例胎儿发育异常的染色体异常情况分析%Correlation analysis of fetal maldevelopmemt and chromosomal abnormalities in 120 cases

    谭卫荷; 李付广; 蓝霓; 汤素环; 张金云; 邓志贤

    2014-01-01

    Objective To investigate the relationship between fetal maldevelopment and chromosomal abnormalities .Methods Color Doppler imaging was done on fetus of 12-40 gestational weeks .Amniocentesis or percutaneous umbilical blood sampling were performed on 120 cases diagnosed with fetal abnormalities and delivered in Qingyuan People ’ s Hospital in Guangdong Province .They were confirmed by follow-up.The data of them were retrospectively analyzed .Results Totally 20 cases were found with chromosomal abnormalities , and the major abnormalities were trisomies 21, trisomies 18, 45,XO, new translocation, ring chromosome abnormality and chimeric chromosomal abnormality.The total detection rate was 16.7% (20/120).There were 17 cases of multiple malformations and 3 cases of single malformation.The chromosomal abnormality rate of multiple malformations was higher than that of single malformation , and the difference was significant (χ2 =15.15, P<0.05).There were 5 cases of polymorphism, and the rest 95 were normal.Conclusion When fetal abnormalities occur , the probability of chromosomal abnormalities is relatively high .When multiple malformations occur , the probability of chromosomal abnormalities is higher .The probability of chromosomal abnormalities is high when specific single malformation is found .%目的:探讨胎儿发育异常与染色体异常的关系。方法采用彩色多普勒对孕12~40周行胎儿超声系统检查,对其中120例产前超声诊断胎儿发育异常,并在广东省清远市人民医院引产的胎儿进行羊水或脐带血染色体检查,并经分娩后随访证实的资料进行回顾性分析。结果染色体数目及结构异常20例,以21-三体、18-三体、45,XO、新发生易位、环状及嵌合体染色体异常多见,总检出率为16.7%(20/120);其中17例为多发畸形,3例为单发畸形,多发畸形的染色体异常率高于单发畸形,两者差异具有统计学意义(χ2=15.15

  2. Analysis of chromosome abnormality in 261 couples with aderverse pregnancy outcome history in Guangzhou%广州地区不良孕产史夫妇外周血异常核型分析

    夏冰; 叶长烂; 张中芬; 郑霖; 江悦华; 王捷

    2011-01-01

    Objective: To explore the types of chromosome abnormality in the couples with aderveree pregnancy outcome history. Method: Cytogenetic analysis with C -staining method was performed on the peripheral blood lymphocyte cultures of 261 couples with abnormal pregnancy - labor history. Results: Chromosome abnormalities were found in 80 patients, including 9 of reciprocal transloca-tion, 1 mosaic Turner syndrome, 70 of chromosome heteromorphism which included 10 of small pericentric inversion of chromosome 9, 16 of increase in length of heterochromatin on long arm of chromosomes, 36 of increase/decrease in satellite length or double satellites on short arms of chromosomes in D and C groups, and 8 of increase/decrease in length of Y chromosome. Conclusion; The chromosome abnormalities of the couples with adverse pregnancy outcome history are mainly balanced reciprocal translocations and chromosome heteromorphism, and the high incidence of the latter in such couples suggests that it has some clinical effects.%目的 观察不良孕产夫妇异常染色体分布类型及其与不良孕产的关系.方法 对261对不良孕产夫妇外周血淋巴细胞进行细胞遗传学分析,采用G显带方法.结果 261对不良孕产史夫妇染色体异常80例(15.3%),其中相互易位9例;Turner嵌合体1例;染色体异态70例,包括9号染色体小臂间倒位10例,次缢痕长度增加16例,D组、G组短臂的随体长度增加或减少或双随体共36例,大Y、小Y共8例.结论 不良孕产夫妇染色体异常主要为平衡易位和多种染色体异态,后者在不良孕产史夫妇中的高发生率提示其具有一定临床效应.

  3. Therapy-related acute myeloid leukemia with chromosomal abnormalities involving t(9;22(q34;q11 and t(3;21(q26;q22 during chemotherapy for follicular lymphoma

    Ogasawara T

    2013-06-01

    Full Text Available This report describes a case of a patient who developed therapy-related acute myeloid leukemia five years after initiating chemotherapy for follicular lymphoma. The patient had been treated with multiple chemotherapeutic regimens, including anthracycline and etoposide (VP-16, as well as with radiation therapy for refractory follicular lymphoma over the preceding five years. The patient subsequently developed myelodysplastic syndrome (MDS with karyotypic abnormalities of monosomy 7 and del (q11; q13.3 followed by acute myeloid leukemia (AML with an additional balanced translocation of t(9;22(q34;q11 and t(3;21(q26;q22. Reverse transcription-polymerase chain reaction amplification of the patient’s RNA showed a fusion transcript of minor BCR-ABL but not EVI1-RUNX1 (AML1 genes. Imatinib therapy resulted in regression of AML, but the patient soon became refractory to chemotherapy and died. Therapy-related acute leukemia develops mostly as non-lymphoid leukemia with unbalanced aberrations of monosomy 7 and 5 or balanced aberrations involving 11q23 and 21q22, but Philadelphia chromosome is uncommon. In addition, simultaneous occurrence of both t(9;22(q34;q11 and t(3;21(q26;q22 balanced aberrations in t-MDS/t-AML is a very rare event. The balanced translocations detected in this case suggest another mechanism by which t-AML can develop after chemotherapy and radiation therapy for follicular lymphoma.

  4. 荧光原位杂交技术在复杂染色体异常产前诊断中的应用%Application of fluorescence in situ hybridization in prenatal diagnosis of complex chromosomal abnormalities

    沈艳艳; 李健; 孔辉; 吴慧南; 吴琼; 葛运生; 黄新力; 周裕林

    2009-01-01

    Objective To investigate the application of fluorescence in situ hybridization (FISH) technique in prenatal diagnosis of complex chromosomal abnormalities. Methods Eleven prenatal diagnosis cases (8 from amniocentesis and 3 from cord blood) with complex chromosomal abnormalities detected by routine G-banding, were further analyzed by FISH. Results The FISH technique confirmed the results of balanced chromosome rearrangements detected by G-banding, and clarified the structure of the derivative chromosomes in the 3 amniocentesis samples and the origin of the mark chromosomes in the 2 cord blood samples. Conclusion FISH can be used to diagnose the complex chromosomal abnormalities accurately in prenatal diagnosis, and can provide very useful genetic information for clinical diagnosis and treatment.%目的 探讨荧光原位杂交技术(fluorescence in situ hybridization,FISH)在复杂染色体异常产前诊断中的应用价值.方法 对8例羊水、3例脐血常规G显带具有复杂染色体异常的产前诊断孕妇,应用FISH技术确定其复杂染色体重排及标记染色体的组成.结果 FISH技术证实了G-显带平衡易位的结果,同时明确了3例羊水中衍生染色体的组成、2例脐血中标记染色体的来源.结论 FISH技术具很高的敏感性和特异性,是明确染色体异常重要的分子细胞遗传学工具,其在产前诊断中的应用,可为临床提供更准确全面的实验依据.

  5. FISH技术在检测自然流产绒毛染色体异常中的应用研究%Application of fluorescence in situ hybridization in detecting chromosomal abnormalities of spontaneous abortion

    蒲育栋; 苏焕厚; 曹金如; 陈美玲; 邓汉钊; 何淑贞

    2016-01-01

    Objective:To explore the value of fluorescence in situ hybridization in detecting chromosomal abnormalities of spontaneous abortion.Methods:78 patients who suffered from spontaneous abortion were observed.All of these cases were detected chromosome 13,16,18,21,22,X and Y by FISH.Results:In 78 cases of abortion villi test results were found in 16 patients with abnormal,abnormal karyotype detection rate of 20.5%,which found triploid four cases;4 cases of trisomy 16;5 cases of trisomy 21;3 cases of trisomy 22.Conclusions:Abnormal number of chromosomes are the main factors leading to spontaneous abortion of early pregnancy,FISH technology can quickly detect chromosomal abnormalities of abortion villi.%目的 探讨荧光原位杂交(FISH)技术诊断自然流产绒毛组织染色体异常中的应用价值.方法 应用FISH技术对78例孕早期流产绒毛组织进行13/16/18/21/22/X/Y染色体检测分析.结果 78例流产绒毛FISH检测结果中,共发现16例异常,异常核型检出率20.5%,其中发现三倍体4例;16三体4例;21三体5例;22三体3例.结论 染色体数目异常是导致孕早期自然流产的主要因素,FISH技术可以快速地检测出流产绒毛组织染色体异常.

  6. 超声检查颈项透明层增厚在胎儿染色体异常诊断中的应用价值%The value of nuchal translucency thickness in the fetal chromosome abnormality screening

    李载红; 洪燕; 覃伶伶; 符小艳; 黄海燕

    2016-01-01

    目的:评价超声检查颈项透明层(nuchal translucency, NT)增厚在胎儿染色体异常筛查中的诊断价值。方法:选择2010年1月至2014年12月在本院行产前超声检查的孕11~13周+6孕妇11086例,对胎儿进行超声 NT 标准化测量,对其中122例 NT 增厚(NT≥2.5 mm)胎儿行染色体核型分析。结果:检出NT≥2.5 mm 者122例,平均NT 厚度(4.5±2.1)mm;122份介入性产前诊断标本染色体核型分析检出染色体异常21例,其中数目异常17例,结构异常4例;发生率最高的前3位依次为:21三体(12例)、染色体臂间倒位(3例)、18三体(2例)。孕妇分娩年龄、胎儿性别、NT厚度的胎儿染色体异常检出率之间存在统计学差异,具体表现为:≥35岁分娩年龄胎儿染色体异常检出率明显高于其他年龄段;女性胎儿染色体异常检出率高于男性;NT 厚度≥5.5 mm 胎儿染色体异常检出率高于 NT 厚度2.5~3.5 mm、3.5~4.5 mm 组,呈正相关关系(趋势χ2=15.533, P <0.001);Logistic 回归分析发现,NT 增厚是胎儿染色体异常发生的独立预测因素。结论:在妊娠早期通过超声检查胎儿NT 厚度可以作为胎儿染色体异常介入性产前诊断的重要超声筛查指标,NT厚度增加提示胎儿染色体异常的发病风险增加。%Objective To evaluate the value of nuchal translucency (NT) thickness in the fetal chromosome abnormality screening. Methods 11 086 pregnant women received NT measurement in 11 ~ 13+6 weeks at Hainan general hospital from January 2010 to December 2014 were selected in the study. The NT thickness was measured according to guidelines from Fetal Medicine Foundation. 122 fetuses (NT≥2.5 mm) were recruited to accept karyotype analysis. Results 11 086 pregnant women received NT measurement in 11 ~13+6 weeks, in which 122 cases′ NT are more than or equal to 2.5 mm, with a positive rate of

  7. 贵州省131例染色体异常者的细胞遗传学分析%Cytogenetical analysis on 131 cases with chromosomal abnormality in Guizhou province

    张宏红; 周从容; 吴小平; 陈蔚清; 鲜义辉; 冯燕梅; 李映雪

    2011-01-01

    目的:对贵州省131例染色体异常者进行细胞遗传学分析,以指导优生优育。方法:对受检者询问病史、体格检查、抽取静脉血进行淋巴细胞培养,中期染色体制片、G显带处理,每例患者镜下计数30个核型,分析核型3个以上,对异常者加大计数和分析量,并按人类细胞遗传学国际命名体制(ISCN,1985)的标准命名。结果:131例异常核型中常染色体数目、结构异常者97例(占74.05%),性染色体数目、结构异常者30例(占22.9%),染色体多态性4例(占3.1%)。结论:染色体异常与不良孕产史、不孕不育、智力低下、性发育异常、原发性闭经等有密切关系。孕前优生遗传咨询,及时了解染色体异常情况,对临床治疗及优生具有极其重要的指导意义。%Objective; To conduct cytogenetical analysis among 131 cases with chromosomal abnormality in Cuizhou province, direct prenatal and postnatal care. Methods: The cases received medical history inquiry, physical examination, culture of lymphocytes in venous blood, metaphase chromosome section and G - banding; 30 karyotypes were counted under microscope respectively, more than 3 karyo-types were analyzed; for the cases with abnormal results, the karyotypes amounts of count and analysis were increased, then naming was carried out according to ISCN (1985) . Results: Among 131 cases with chromosomal abnormality, 97 cases were found with numerical abnormality and structural abnormality of autosome, accounting for 74.05% ; 30 cases were found with numerical abnormality and structural abnormality of sex chromosome, accounting for 22. 9% ; 4 cases were found with chromosomal polymorphism, accounting for 3.1%. Conclusion: Chromosomal abnormality is related to adverse history of pregnancy, infertility, hypophrenia, sexual developmental abnormality and primary amenorrhea closely. Genetic counselling before pregnancy and understanding chromosomal abnormality timely play important

  8. Analysis on relevance between fetal nuchal translucency and chromosome abnormality%胎儿颈项透明层增厚与胎儿染色体异常的关联性研究

    刘冬菊; 雷桔红; 钟凯

    2016-01-01

    Objective To evaluate the relevance between fetal nuchal translucency and chromosome abnormality.Methods 566 cases of pregnancies with fetal nuchal translucency measurement were divided into normal NT group and abnormal NT group .The abnormal NT group was divided into mild thickened NT group and severe thickened NT group .The abnormal chromosome incidence of each group was analyzed .Results 566 cases includes 355 cases with normal NT and 211 cases with abnormal NT .21 cases (5.9%) in normal NT group were complicated with abnormal fetal chromosome , including 14 cases of trisomy 21, one case of trisomy 18 and one case of abnormal sex chromosome .39 cases (18.5%) in abnormal NT group were complicated with abnormal fetal chromosome, including 21 cases of trisomy 21, six cases of trisomy 18 and three cases of abnormal sex chromosome .The abnormal chromosome incidence of abnormal NT group was significantly higher than that of normal NT group(P>0.05).211 cases of abnormal NT group included 112 cases in mild thickened NT group and 99 cases in severe thickened NT group .The abnormal chromosome incidence of severe thickened NT group (27.3%) was significantly higher than that of normal NT group (10.7%)(P>0.05).Conclusions Fetuses with thickened NT are highly relevant with fetal chromosomal abnormalities . Aneuploid is the common chromosome abnormalities in fetuses with abnormal NT .NT is a useful marker in prenatal screening .%目的:探讨胎儿NT异常与染色体异常的关系。方法对我院产前超声NT筛查并行羊水穿刺产前诊断的566病例分为NT正常组和NT异常组,分析并比较两组染色体异常的比例。将NT增厚的病例又分为轻度增厚组和明显增厚组,比较两组的染色体异常的比例。结果566例中NT正常355例和NT异常211例,NT正常组中有21例合并染色体异常,比例为5.9%,包括染色体非整倍体16例,分别为21三体14例,18三体1例,性染色体异常1

  9. Commentary: Unravelling the Effects of Additional Sex Chromosomes on Cognition and Communication--Reflections on Lee et al. (2012)

    Bishop, Dorothy V. M.

    2012-01-01

    Most people have 23 pairs of chromosomes; one set from the mother and one from the father. However, nondisjunction errors during meiosis can lead to a case of trisomy, where there are three rather than two chromosomes. Although such events are not uncommon, they are usually lethal, and account for a high proportion of spontaneous abortions. There…

  10. 西城区118例染色体畸形流行特征分析%Epidemiological analysis of 118 cases of chromosomal abnormalities in Xicheng District of Beijing

    闫学明; 夏宏伟

    2012-01-01

    目的 了解近年来北京市西城区医院监测染色体畸形发生情况.方法 对2005年10月1日~2010年9月30日间北京市西城区产科医院孕13周一产后7d的胎儿及新生儿进行出生缺陷监测,并对监测结果进行率及顺位等分析.结果 (1)监测到染色体畸形118例,发生率为30.39/万;(2)监测到24种染色体畸形,发生率前三位依次是唐氏综合征(17.25/万)、18-三体(3.09/万)、特纳征(5.08/万);(3)染色体畸形患儿产前诊断率为75.42%,活产率为21.19%,其母亲高龄构成比为54.24%.结论 西城区具有较高的染色体畸形产前诊断率;监测到染色体畸形种类较多.%Objective To investigate the situation of chromosomal abnormalities among hospitals of Xicheng District . Methods Fetus and newborn between 13w and 7d after delivery were monitored for defects in hospitals of Xicheng District from October,2005 to September, 2010. Incidence of chromosomal abnormalities and incidence sequence of abnormality types were analyzed. Results 1. 118 cases of chromosomal abnormalities were monitored with the incidence of 3.039‰. 2 . 24 types of abnormalities were monitored and the three most common abnormalities were Down's syndrome(l7.25/10000), 18-trisomy syndrome (3.09/10 000), and Turner syndrome (5.08/10 000). 3. 75.42% of the 118 cases were diagnosed at antepartum with live birth rate (21.19% ) and their mothers with advanced age accounted for 54.24%. Conclusion There's relatively higher prenatal diagnosis rate for detection of chromosomal abnormalities in Xicheng District, where more abnormality types can be monitored.

  11. LIPID ABNORMALITIES IN SUCCINATE SEMIALDEHYDE DEHYDROGENASE (Aldh5a1−/−) DEFICIENT MOUSE BRAIN PROVIDE ADDITIONAL EVIDENCE FOR MYELIN ALTERATIONS

    Barcelo-Coblijn, G.; Murphy, E.J.; Mills, K.; Winchester, B; Jakobs, C.; Snead, O.C.; Gibson, K. M.

    2007-01-01

    Lipid abnormalities in succinate semialdehyde dehydrogenase (aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations correspondence: Corresponding author. Tel.: +1 412 692 7608; fax: +1 412 692 7816. (Gibson, K.M.) (Gibson, K.M.) Department of Pharmacology - Physiology--> , and Therapeutics--> , School of Medicine and Health Sciences--> , University of North Dakota--...

  12. Consideration of QRS complex in addition to ST-segment abnormalities in the estimated "risk region" during acute anterior myocardial infarction

    van Hellemond, Irene E G; Bouwmeester, Sjoerd; Olson, Charles W

    2011-01-01

    a falsely low estimated total MaR if determined by using ST segment-based methods. The purpose of this study was to investigate if consideration of the abnormalities in the QRS complex, in addition to those in the ST segment, provides a more accurate estimated total MaR during anterior AMI than...

  13. 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,

  14. Banding studies of chromosomes in a patient with mycosis fungoides

    Fukuhara, S.; Rowley, J.D.; Variakojis, D.

    1978-11-01

    Chromosomes from a patient with mycosis fungoides were examined in detail with banding techniques. Hyperdiploid cells from a lymph node had common anomalies of certain chromosomes which formed three similar clones. The abnormalities involved chromosomes Nos. 1, 2, 5, 8, 9, 10, 14, and 18, in addition to an unknown small metacentric marker (M3). Although there were a number of mitotic cells in peripheral blood cultured both with and without PHA, none of the few cells with abnormal karyotypes was similar to the clonal cells of the lymph node. One of the abnormalities in the lymph node was a 14q rearrangement, which could be the result of a translocation of Nos. 8 and 14 involving a third chromosome, No. 2. An abnormality in the blood resulted from a translocation between the long arms of Nos. 1 and 14. These findings could be useful for studies in which mycosis fungoides is compared with the Sezary syndrome and other lymphoid malignancies.

  15. 胎儿心内强光点与染色体异常的关系%Relationship between intracardiac echogenic focus in fetus and chromosomal abnormality

    林洪亮; 陈必良

    2012-01-01

    The occurrence of the intracardiac echogenic focus ( ICEF ) within the ventricles of the fetal heart is found and well known in mid-1980s. The histopathological manifestation of this sonographic sign is a microcalcification in papillary muscle. Such appearance is initially thought to be entirely benign. In 1992, Roberts and Genest reported microcalcifications in ventricles in 16% of fetuses with trisomy 21, 39% of fetuses with trisomy 13 , and 2% of normal chromosome fetuses. Since then, studies on its clinical significance especially the association with fetal chromosoamal abnormality never stop. The aim of this article was to review the literatures on this topic.%胎儿心内强回声光点于上个世纪80年代被人们发现而熟悉,其病理组织表现为心室内乳突肌的微小钙化灶.最初仅将其看做一种纯粹的良性发现.1992年Roberts和Genest发现16%的21三体胎儿、39%的13三体胎儿以及2%的染色体正常胎儿心室内有这种微小钙化灶.之后学者们开始对胎儿心内强回声光点的临床意义特别是与染色体异常的关系进行了大量的研究,现对其进行综述.

  16. 染色体变异、畸变与男性生殖激素水平和精子生成的关系%Association between chromosome variations,abnormalities and male reproductive hormones level with spermatogenesis

    刘浩; 耿春惠; 沈楷; 黄永祥; 张丽燕; 陈爱群

    2014-01-01

    目的:探讨染色体变异、畸变与男性生殖激素水平和精子生成的关系。方法对147例男性不育和复发性流产患者进行染色体核型、生殖激素和精液分析,并对其结果进行对比分析。结果染色体畸变组血清 FSH、LH 水平和无精子症发生率分别高于染色体变异组和正常组(P <0.05,P <0.01),血清 T 水平显著低于染色体变异组和正常组(P <0.05)。Y 染色体变异组血清 FSH 水平和少精子症发生率显著高于常染色体变异组(P <0.05),两组无精子症发生率差异无统计学意义(P >0.05)。性染色体畸变组血清 FSH、LH 水平和无精子症发生率显著高于常染色体畸变组(P <0.05),血清 T 水平显著低于常染色体畸变组(P <0.05)。结论染色体变异、畸变与生殖激素紊乱和生精功能障碍密切相关,性染色体变异和畸变导致男性血清 FSH、LH水平显著升高、T 水平显著降低可能是导致少精子症和无精子症的发病机制之一。%Objective To investigate the association between chromosome variations,abnormalities and male reproductive hor-mones level with spermatogenesis.Methods The chromosome karyotype,serum reproductive hormone including FSH,LH,T,PRL and E2,and semen were detected in 147 patients with male infertility or recurrent sponotaneous abortion.The results were per-formed the comparative analysis.Results Serum FSH,LH level and the incidence rate of azoospermia in the chromosome abnormal-ity group were significantly higher than those in the chromosome variation group and the normal group(P 0.05).Serum FSH,LH level and the incidence rate of azoospermia in the sex chromosome abnormality group were obviously higher than those in the autosomal abnormality group(P <0.05),the serum T level was signifi-cantly lower than that in the autosomal abnormality group(P <0.05).Conclusion The chromosome variation and abnormality are closely related with

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

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

    2013-01-01

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

  18. Persistent chromosome damage induced by localized radiotherapy for lymphoma

    Zaslav, A.L.; Stamberg, J.; Shende, A.

    1988-02-01

    A fibroblast culture was established from a lymph node biopsy of a patient with non-Hodgkin lymphoma, 9 months after chemotherapy and intensive therapeutic x-irradiation of the area. In contrast with blood and bone marrow, which were chromosomally normal, all cells of the lymph node were chromosomally abnormal, with numerous clones having multiple structural abnormalities. Numerical abnormalities (trisomies and monosomies) were not found. Structural abnormalities included translocations, terminal deletions, and pericentric inversions, with an excess of centromeric breakpoints being the only apparent deviation from a random distribution of breakpoints. None of the rearrangements associated with malignant lymphoma were seen, indicating that the chromosome abnormalities in the lymph stroma were radiation-associated, not disease-associated. These acquired changes may be a cause of additional malignant transformation.

  19. 泰国少精无精不育男性中Y染色体微缺失和染色体异常的发病率%Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia

    T.Vutyavanich; W.Piromlertamorn; W.Sirirungsi; S.Sirisukkasem

    2007-01-01

    Aim:To investigate the possible causes of oligozoospermia and azoospermia in infertile Thai men, and to find the frequencies of Y chromosome microdeletions and cytogenetic abnormalities in this group. Methods: From June 2003 to November 2005, 50 azoospermic and 80 oligozoospermic men were enrolled in the study. A detailed history was taken for each man, followed by general and genital examinations. Y chromosome microdeletions were detected by multiplex polymerase chain reaction (PCR) using 11 gene-specific primers that covered all three regions of the azoospermic factor (AZFa, AZFb and AZFc). Fifty men with normal semen analysis were also studied. Karyotyping was done with the standard G- and Q-banding. Serum concentrations of follicle stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL) and testosterone were measured by electrochemiluminescence immunoassays (ECLIA). Results: Azoospermia and oligozoospermia could be explained by previous orchitis in 22.3%, former bilateral cryptorchidism in 19.2%, abnormal karyotypes in 4.6% and Y chromosome microdeletions in 3.8% of the subjects. The most frequent deletions were in the AZFc region (50%), followed by AZFb (33%) and AZFbc (17%).No significant difference was detected in hormonal profiles of infertile men, with or without microdeletions.Conclusion: The frequencies of Y chromosome microdeletions and cytogenetic abnormalities in oligozoospermic and azoospermic Thai men are comparable with similarly infertile men from other Asian and Western countries.

  20. 中晚孕期染色体异常胎儿产前超声声像特征%Prenatal Ultrasonic Characteristics of Fetus with Chromosomal Abnormality in Middle and Last Trimester of Pregnancy

    王梦君; 石伟元; 廖敏兰; 彭旭红; 张彤; 阳敏; 颜海英

    2012-01-01

    [Objective] To explore the prenatal ultrasonic characteristics of fetus with chromosomal abnormality in middle and last trimester of pregnancy. [ Methods] The result of chromosomal test and prenatal ultrasonic characteristics of 29 fetuses with chromosomal abnormality in middle and last trimester of pregnancy were analyzed retrospectively, [Results] Among 29 fetuses with chromosomal abnormality, there were 5 cases of single deformity, 17 cases of multiple deformity, 5 cases of minor anomaly and 2 cases of no anomaly detected by prenatal ultrasonography. The abnormal rate of ultrasound was 93. 1% (27/29). Ultrasound minor a-nomaly was found in 18 fetal abnormalities, and the rate of ultrasound minor anomaly was 85. 2% (23/27). A-mong 10 fetuses with trisomy 18, prenatal ultrasonographic findings of 9 fetuses were multiple deformity mainly including nervous system abnormality(7/9) , heart abnormality(7/9) and abnormal hand posture(5/9) , and one case was fetal hydrops. Among 5 cases of trisomy 21, 3 cases had no structural malformation and only showed one or more ultrasonic minor anomaly, and 2 cases had no any abnormality. The prenatal ultrasonographic findings of 3 fetuses with trisomy 13 were serious nervous system abnormality including holoprosen-cephaly in 2 cases and Dandy-Walker syndrome in other 1 case. The 45 X0 was found in 4 cases. Chromosomal structure abnormality was found in 7 cases. Heart abnormality or other abnormal ultrasound appearance were found in 3 cases(3/7). [Conclusion]The prenatal ultrasonography of fetus with chromosomal abnormality in middle and last trimester of pregnancy can mostly find abnormal image, in which multiple deformity is commonly seen. Most of them are accompanied by ultrasound minor abnormality. A part of fetuses with chromosomal abnormality have corresponding typical abnormal image.%[目的]探讨中晚孕期染色体异常胎儿产前超声声像表现特点.[方法]回顾性总结分析29例中晚孕期染色体异常胎

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

    刘振红; 刘永红; 刘晓玲

    2012-01-01

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

  2. Comparative analysis of chromosomal abnormalities and prenatal ultrasonic characteristics of fetus in the second and third trimester%对照分析中晚孕胎儿染色体异常与产前超声特征

    刘彦英; 丛淑珍; 李萍; 吴丽桑; 郭玉萍; 钱隽; 李谊; 许少兰

    2012-01-01

    To observe the ultrasonic characteristics of fetus with chromosomal abnormalities in the second and third trimester. Methods From Mar 2007 to Apr 2011, 31 fetuses with chromosomal abnormalities confirmed by amniotic fluid or umbilical cord blood puncture underwent prenatal diagnosis. The findings of prenatal ultrasound were documented in details. Results In 31 fetuses with chromosomal abnormalities, 12 were detected with 21-trisomy, 11 with 18-trisomy, 3 with 13-trisomy, 3 with 45, XO, and 2 with 47, XXX. Twenty-three of 31 fetuses were detected abnormalities with prenatal ultrasound, including 6 of 21 trisomy, 11 of 18-trisomy, 3 of 13-trisomy, and 3 of 45, XO, the detection rate was 74.1954 (23/31). Conclusion Different chromosomal diseases have different prenatal ultrasound characteristics. To improve the detection rate of fetal chromosomal abnormalities, combining analysis of multiple indicators is needed.%目的 探讨不同染色体异常胎儿的超声特征.方法 分析2007年3月-2011年4月接受产前检查且羊水或脐血穿刺结果均显示染色体异常的胎儿31胎,产前超声检查结果记录完整.结果 31胎染色体异常胎儿中,21-三体12胎,18-三体11胎,13-三体3胎,45,XO 3胎,47,XXX 2胎.产前超声检查共诊断23胎异常胎儿,包括21-三体6胎,18-三体11胎,13-三体3胎,45,XO 3胎,检出率为74.19%(23/31).结论 不同的染色体病超声特征不同,需结合多项指标分析,以提高染色体异常胎儿的检出率.

  3. A physical analysis of the Y chromosome shows no additional deletions, other than Gr/Gr, associated with testicular germ cell tumour

    Linger, R; Dudakia, D; Huddart, R; Easton, D; Bishop, D. T.; Stratton, M.R.; Rapley, E A

    2007-01-01

    Testicular germ cell tumour (TGCT) is the most common malignancy in men aged 15–45 years. A small deletion on the Y chromosome known as ‘gr/gr' was shown to be associated with a two-fold increased risk of TGCT, increasing to three-fold in cases with a family history of TGCT. Additional deletions of the Y chromosome, known as AZFa, AZFb and AZFc, are described in patients with infertility; however, complete deletions of these regions have not been identified in TGCT patients. We screened the Y...

  4. 新生儿先天性畸形伴染色体异常56例分析%Analysis of 56 congenital malformed neonates with Chromosomal abnormal

    李卓园; 李勇

    2011-01-01

    目的 研究新生儿先天性畸形的临床与染色体异常核型特征,为提高产前诊断提供依据.方法 采用常规外周血培养及制备染色体,G显带核型分析.结果 56例先天性畸形中,染色体异常以21-三体最为多见(40例占71.43%),其次有18-三体及13-三体,同时还发现一些罕见的染色体异常.临床上,常以特殊面容表现最为突出.同时先心、唇腭裂等较严重畸形在三体型中较为常见.结论 染色体异常所致胎儿特殊异常表现,重点心血管,唇腭裂检查是提高产前诊断检出染色体异常的重要依据.%Objective: To investigate the clinical manifestations of neonates and characteristics of its chromosomal abnormal so as to supply reference for prenatal diagnosis. Methods: Chromosome preparations were made from peripheral blood lymphocytes. Karyotypes were analyzed by G - banding technique. Results: Among 56 cases, 40 cases were found having trisomy 21 ( 71.43% ), others were trisomy 18, trisomy 13 and infrequent chromosomal abnormal. The patients mainly presented unusual appearance, congenital heart disease and cheilopalatognathus. Conclusion: Examination of cardiovascular diagnosis and cheilopalatognathus can enhance prenatal diagnosis for Chromosomal abnormal.

  5. Retrospective Analysis of the Relationship between the Outcomes of Chromosome Abnormalities and Congenital Malformations in 99 Cases%胎儿染色体异常与先天畸形类型关系的研究

    张璘; 任梅宏; 张晓红; 宋桂宁; 王建六

    2013-01-01

    目的:通过对产前诊断中确诊的染色体异常并伴有先天器官畸形的相关资料分析,总结胎儿染色体异常与畸形部位和畸形比例的关系,为提高产前诊断率提供理论依据.方法:回顾性分析2006年1月至2011年12月在北京大学人民医院产前诊断中心诊断并随访证实的染色体异常伴先天畸形的99例患者的临床资料,综合分析不同畸形分类和染色体异常的关系及比率.结果:99例患儿中,常染色体异常76例(76.77%),其中常染色体三体征64例(21-三体38例,18-三体12例,13-三体8例,14-三体1例,16-三体3例,8-三体1例,22-三体1例),常染色体结构异常12例(染色体部分缺失4例,染色体部分三体征8例);性染色体数目或结构异常21例(男性性染色体异常12例,女性性染色体异常9例);三倍体2例.99例患儿中75.76% (75/99)存在1个或多个畸形,64.65%(64/99)同时存在2个或2个以上畸形,19.19%(19/99)同时存在5个或5个以上畸形;65.66% (65/99)伴有不同程度心脏畸形,61.62% (61/99)存在心外脏器畸形.结论:染色体异常可伴有众多基因的增加或减少,可同时伴有多种脏器畸形,不同染色体异常伴发脏器畸形的类型及比率也各不同.建议在产前检查中可疑胎儿脏器畸形者,应进一步行产前细胞遗传学诊断以排除染色体异常的患儿.%Objective:To analyse the clinical data of cases with congenital malformations and chromosome abnormalities,and to investigate the association between congenital malformations and chromosome abnormalities prenatal cases,and to provide base for improving prenatal diagnosis. Methods:The clinical data of cases with congenital malformations and chromosome abnormalities during Jan 2006 to Dec 2011 in the Center of Prenatal Diagnosis of Beijing University People's Hospital were analyzed retrospectively. The associations between the chromosomal karyotypes and the types of congenital malformations were

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

    李强; 聂玲; 刘忠强; 王洪强; 王沛涛; 刘芝军

    2013-01-01

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

  7. 结球甘蓝减数分裂中染色体异常行为分析%Analysis on Chromosome Abnormal Behavior in Meiosis of Brassica oleraces var. Capitata L.

    邵治亮

    2009-01-01

    对300多个纯合二倍体结球甘蓝花粉母细胞减数分裂各时期的染色体进行观察,发现自然条件下纯合二倍体甘蓝花粉母细胞在减数分裂的双线期、终变期以及中期Ⅰ出现了高频率的1~3个四价体和中期Ⅰ有高频率的1~3对染色体提早分离和滞后分离2种异常现象,探讨了甘蓝结实率不高与染色体异常行为之间的关系.%The chromosomes from more than 300 pollen mother cells of homozygous diploid of Brassica oleraces var. Capitata L were observed in every period of meiosis. It was found that altofrequent 1-3 quadrivalent appeared in diplotene, diakinesis and metaphase I of meiosis of pollen mother cells of B. oleraces var. Capitata under natural conditions, and 2 kinds of abnormal phenomenas such as altofrequent 1-3 pairs of chromosomes separated early or late in metaphase I of meiosis. The relationship between low seed setting rate of B. oleraces var. Capitata and chromosome abnormal behavior was explored.

  8. Cytogenetic and molecular studies on tomato chromosomes using diploid tomato and tomato monosomic additions in tetraploid potato

    Chang, S.B.

    2004-01-01

    Geneticists have studied the tomato, Lycopersicon esculentum, for several decades and now obtained a saturated linkage map on which numerous genes controlling morphological traits and disease resistances, and molecular markers have been positioned. They also investigated the chromosomes of tomato, w

  9. Chromosome number reports in Astragalus sect. Onobrychoidei (Fabaceae from Iran

    Massoud Ranjbar

    2015-01-01

    Full Text Available In this study, original mitotic chromosome counts have been presented for 10 populations belonging to 6 species of Astragalus sect. Onobrychoidei: A. aduncus, A. arguricus, A. cancellatus, A. lilacinus and A. vegetus. All taxa were diploid and possessed 2n = 2x = 16 chromosome number, consistent with the proposed base number of x = 8. In addition, meiotic studies revealed chromosome number of 2n = 2x = 16 for A. aduncus21 and A. brevidens and also 2n = 4x = 32 for A. vegetus99. Although this taxon displayed regular bivalent pairing and chromosome segregation at meiosis, some abnormalities were observed.

  10. CLINICAL STUDY OF CHROMOSOMAL ABNORMALITY IN MISSED ABORTION TISSUE DETECTED BY FLUORESCENCE IN SITU HYBRIDIZATION TECHNIQUE%FISH 技术检测稽留流产组织中染色体异常的临床研究

    王春珺; 于晶峰

    2014-01-01

    目的:探讨稽留流产胎儿组织细胞中染色体异常总发生率及异常种类和各种异常的发生率。方法:采用18号、X 和 Y 染色体着丝粒探针及13、16、21、22号染色体单一序列探针,对105例稽留流产胎儿组织进行FISH 检测。结果:49.5%的稽留流产是由胎儿染色体异常引起的;染色体异常的前3位为三倍体,16号染色体三体,X 单体,分别占染色体异常总发生率的32.7%、15.4%和15.4%;高龄组(≥35岁)和非高龄组(0.05);妊娠≤12wk和妊娠>12wk者染色体异常率分别为60.9%和31.7%,差异有统计学意义(P0. 05). The detection rate of chromosomal abnormality in the cases of ≤12 gestational weeks was 60. 9%,while the detection rate of chromosomal abnormality in the cases of >12 gestational weeks was 31. 7%,there was significant difference(P<0. 05). Conclusion:Most missed abortion are caused by genetic gene defect, FISH technique can detect aborted fetuses, find chromosomal abnormality rapidly and accurately,provide data for genetic counseling of subsequent pregnancy.

  11. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

    Delague, Valérie; Bareil, Corinne; Bouvagnet, Patrice; Salem, Nabiha; Chouery, Eliane; Loiselet, Jacques; Mégarbané, André; Claustres, Mireille

    2002-03-01

    Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.

  12. Fate of Aegilops speltoides-derived, repetitive DNA sequences in diploid Aegilops species, wheat-Aegilops amphiploids and derived chromosome addition lines.

    Kumar, S; Friebe, B; Gill, B S

    2010-07-01

    The present study reports the cloning and characterization of an Aegilops speltoides-derived subtelomeric repeat, designated as pSp1B16. Clone pSp1B16 has 98% sequence homology with the previously isolated Ae. speltoides repeat Spelt1. The distribution of pSp1B16 and another Ae. speltoides repeat, pGc1R1, was analyzed in diploid Aegilops species, tetra- and hexaploid wheats, wheat-Aegilops amphiploids and derived chromosome addition lines by fluorescence in situ hybridization (FISH). Clones pSp1B16 and pGc1R1 revealed FISH sites in Ae. speltoides, Ae. sharonensis and Triticum timopheevii, whereas additional pGc1R1 FISH sites were observed in Ae. longissima and Ae. caudata. The pSp1B16 and pGc1R1 FISH patterns of the Aegilops chromosomes in the wheat-Aegilops amphiploids and chromosome addition lines are similar to those present in the Aegilops parent accession. We did not observe any evidence of pSp1B16 and pGc1R1 sequence elimination, which is in contrast to previous studies using similar hybrids and repeats. The presented data suggest that the genomic changes in synthetic amphiploids observed in previous studies might be caused by homoeologous recombination, which was suppressed in the amphiploid analyzed in this study.

  13. Clinical assessment of fluorescence in situ hybridization for prenatal diagnosis of chromosomal abnormalities%荧光原位杂交技术在胎儿染色体异常产前诊断中的应用

    傅文婷; 潘小英; 尹爱华; 卢健; 郭莉; 吴菁

    2011-01-01

    Objective; To analyze the clinical application of fluorescence in situhybridization (FISH) on the prenatal diagnosis of chromosomal abnormalities. Methods; To assay, the prenatal diagnosis of chromosome aneuploidies by FISH analysis of chromosome -specific probes (Chromosome 13, 21, 18, X, Y) in interphase amniocytes of 1128 pregnant women of 16 -22weeks of gestational age, comparing with the assay of with control group which the amniotic cell chromosome karyotyping. Results; All the 1128 cases had been successfully detected by FISH, including 1081 normal cases and 20 cases of numerical abnormality, which were consistent with the karyotype analysis. What is more, 27 cases of chromosomal structural abnomalities were failed to detected by FISH. Conclusion; With the advantages of speediness, simplicity, high accuracy, strong specificity, et al, FISH had a broad scope in future clinical applications, and had great significances in cytogenetic pregnatal diagnosis.%目的 探讨荧光原位杂交(FISH)技术在检测胎儿染色体异常的临床应用.方法 选用13、21、18、X、Y特异性探针对1128例孕16-22周有产前诊断指征的妊娠妇女羊水间期细胞进行分析,并与同时进行的羊水细胞培养核型分析结果进行对照.结果 被检1128例羊水间期细胞FISH检测均成功,其中检出正常核型1081例,数目异常核型20例,与常规细胞染色体核型分析结果一致,另外27例结构异常FISH技术未能检出.结论 FISH技术检测胎儿染色体数目异常具有快速、简便、准确性高、特异性强等优点,有较大的临床应用价值,并对产前细胞遗传学诊断有重要意义.

  14. Terminal deoxynucleotidyl transferase requires KU80 and XRCC4 to promote N-addition at non-V(D)J chromosomal breaks in non-lymphoid cells.

    Boubakour-Azzouz, Imenne; Bertrand, Pascale; Claes, Aurélie; Lopez, Bernard S; Rougeon, François

    2012-09-01

    Terminal deoxynucleotidyl transferase (TdT) is a DNA polymerase that increases the repertoire of antigen receptors by adding non-templated nucleotides (N-addition) to V(D)J recombination junctions. Despite extensive in vitro studies on TdT catalytic activity, the partners of TdT that enable N-addition remain to be defined. Using an intrachromosomal substrate, we show here that, in Chinese hamter ovary (CHO) cells, ectopic expression of TdT efficiently promotes N-additions at the junction of chromosomal double-strand breaks (DSBs) generated by the meganuclease I-SceI and that the size of the N-additions is comparable with that at V(D)J junctions. Importantly, no N-addition was observed in KU80- or XRCC4-deficient cells. These data show that, in a chromosomal context of non-lymphoid cells, TdT is actually able to promote N-addition at non-V(D)J DSBs, through a process that strictly requires the components of the canonical non-homologous end-joining pathway, KU80 and XRCC4.

  15. 产前系统超声筛查与胎儿染色体异常的关系%The Correlation for Prenatal Ultrasound Screening of Fetal Malformations and Fetal Chromosomal Abnormality

    戴晨燕; 茹彤; 顾燕; 杨燕; 杨丽娟; 徐燕

    2011-01-01

    目的:探讨产前系统超声筛查中晚孕期胎儿结构异常对指导进行侵入性产前诊断的价值.方法:2008年1月至2009年6月对我院中晚孕期孕妇行系统超声及超声心动图筛查,发现胎儿异常时经产前咨询及孕妇知情同意后,进行侵入性产前检查即羊水或脐静脉穿刺,进行染色体核型分析,分析各种类型的超声异常表现与染色体异常发病风险的关系.结果:共有105例超声检查发现胎儿异常的孕妇接受了羊水或脐静脉穿刺行胎儿染色体核型分析,77例超声发现严重异常的病例中检出26例染色体异常(26/77),严重异常组与微小异常组之间染色体异常发病的差异有高度统计学意义(χ2=12.566,P<0.001),尤其是胎儿先天性心脏病合并心外畸形时,染色体异常发病率高达55%(11/20).结论:产前系统超声及超声心动图筛查可以发现大多数的胎儿发育异常,特别是胎儿先天性心脏病,可以为进一步进行侵入性产前诊断提供重要依据.%Objective:To assess the effectiveness of systematic ultrasound in second or third trimester to detect fetal malformations for instructing the necesity of further invasive prenatal diagnosis.Methods:This retrospective study included pregnancy women from January 2008 to June 2009 in the Affiliated Drum Tower hospital of Nanjing University Medical College.Those women had systematic ultrasound and echocardiogram examination within the second or third trimester of pregnancy.When fetal malformations were found, the invasive prenatal diagnosis (puncture of amniotic fluid or umbilical vein) was suggested to check the chromosomal abnormalities and analyze their relationship.Results:105 pregnant women who were found fetal abnormalities were recruited and had the invasive prenatal diagnosis, 26 cases of chromosomal abnormalities were found in 77 obvious ultrasound abnormalities.There was significant difference in chromosomal abnormalities between obvious and

  16. Basic chromosome numbers and polyploid levels in some South African and Australian grasses (Poaceae

    J. J. Spies

    1991-12-01

    Full Text Available Chromosome numbers of 46 specimens of grasses, involving 24 taxa from South Africa and Australia, have been determined during the present study. For the first time chromosome numbers are given for Eragrostis sarmentosa (Thunb. Trin. (n = 20. Panicum aequinerve Nees (n = 18,  Digitaria argyrograpta (Nees Stapf (n = 9 and D. maitlandii Stapf & C.E. Hubb. (n = 9. Additional polyploid levels are described for Diplachne fusca (L. Beauv. ex Roem. & Schult. (n = 10 and Digitaria diagonalis (Nees Stapf var.  diagonalis (n = 9.B-chromosomes were observed in several different specimens. The presence of B-chromosomes often results in abnormal chromosomal behaviour during meiosis.

  17. Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

    D. van Opstal (Diane); M. Boter (Marjan); P. Noomen (Petra); M. Srebniak (Malgorzata); G. Hamers (Guus); R-J.H. Galjaard (Robert-Jan)

    2011-01-01

    textabstractBackground: Small supernumerary marker chromosomes (sSMC) are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques. These marker chromosomes may cause an abnormal phenotype or be harmless depending on different fa

  18. Establishment of a rapid technical assessment of sex chromosome numerical abnormality in spermatozoa%快速检测精子性染色体分析技术的建立

    乐威; 钱君海; 赵华颖; 袁涛; 吴登龙; 章劲夫

    2011-01-01

    Objective To establish a rapid method to analyze the numerical abnormality of chromosome X and Y in spermatozoa from the healthy males by using two-color fluorescence in situ hybridization( FISH) .Methods Fluorescence in situ hybridization was carried out by using centromeric probes targeting chromosomes, including X and Y upon the sperm samples harvested from 7 healthy men with normal semen quality.The frequency of numerical abnormality ( aneuploidy, diploidy) was rated in each sample.Results A total of 10 078 sperm cells were counted.The total hybridization rate was 99.000% with ( 49.789 ± 1.346 ) % for chromosome X and (48.814 ± 1.296)% for chromosome Y.Abnormality in these samples included XX-, XY-, and YY-typed chromosomes, respectively with incidence of (0.110 ±0.053 ) % , (0.222 ±0.077)% , and(0.094 ±0.038) % .Conclusion A rapid and efficient method has been established to analyze the numerical abnormality in sperm sex chromosomes by using fluorescence in situ hybridization.This method may be adopted to examining genetically the quality of spermatozoa and to estimate male's infertility.%目的 建立一种应用双色荧光原位杂交技术快速分析正常男性精子XY染色体数目及异常率的方法.方法 采用X、Y号染色体着丝粒探针对7例健康男性精子样本进行荧光原位杂交实验,检测精子XY染色体数目异常情况(非整倍体,双倍体).结果 计数10078个精子,杂交率99.00%.其中X染色体杂交率为(49.789±1.346)%,Y染色体杂交率为(48.814±1.296)%,精子中双体类型为XX、XY、YY,其中XX杂交率为(0.110±0.053)%,XY杂交率为(0.222±0.077)%,YY杂交率为(0.094±0.038)%.结论 采用荧光原位杂交技术建立了一种能够快速高效分析精子染色体数目异常的检测方法,可作为精子质量遗传学检测手段,应用于男性不育症的临床检测.

  19. 鼻咽癌染色体1p末端结构异常及其临床意义的初步研究%Structural abnormalities of chromosome 1p termination in nasopharyngeal carcinoma and its clinical implications

    黄铁军; 黄必军; 张林杰; 黄楚文; 梁启万; 方嬿

    2004-01-01

    BACKGROUND:Correlations between the structural abnormalities of chromosome 1pter in nasopharyngeal carcinoma(NPC) and its tumorigenesis and clinical significance are still unclear. OBJECTIVE: To investigate the correlations between the structural abnormalities of chromosome 1pter in NPC and the tumorigenesis of NPC. DESIGN:A retrospective study was performed to the control group according to the diagnosis. SETTING and PARTICIPANTS: The experiment was collected and completed in Reaearch Department of Sun Yat-Sen Cancer Center.Biopsy specimens from the nasopharynx of 65 cases of pathologically confirmed primary NPC without any therapy in the Sun Yat-Sen Univrsity Cancer Center were collected between the year 1998 and 2000 to survey. INTERVENTION: After the purification of cancerous cells from NPC biopsies with many noncancerous lymphocytes, interphase fluorescent in situ hybridization(FISH) and PCR-LOH/MI analysis of the somatic alterations of chromosomes 1pter in 65 cases of NPC biopsies were performed by using 1pter-related probe, TelVysion 1p, and telomere-linked microsatellite polymorphism site, D1S243,respectively. MAIN TOUCOME MEASURES: The abnormalities such as chromosome deletion, amplification and microsatellite instabilities(MI) and their clinical implications were examined and investigated. RESULTS:The somatic alterations of chromosome 1pter of NPC were detected in 20 of 65 cases with NPC, 8 of which showed allelic deletion,7 amplification and 5 both simultaneously.In available 44 patients with clinical stages, 2 of the 4 NPC cases in the early clinical stage were proved to be aberrations in chromosome 1pter, whereas 30.0% (12/40) of NPC patients in advanced clinical stage showed somatic structural aberrations of chromosome 1pter(χ 2=0.0655,P >0.05).PCR-LOH/MI analysis indicated that, out of the matched 31 NPC biopsies,16 had detectable aberrations, including 13 microsatellite instability(MI),2 homozygous deletion(HD) and 1 loss of heterozygosity

  20. 不育男性Y染色体长度异常的精液质量%Effect of abnormality Y chromosome and sperm quality on the result of insisted reproductive techniques

    谢伟; 秦雯; 莫定敢; 陈美佳; 吕福通; 覃爱平

    2016-01-01

    Objective To investigate the effect of abnormality Y chromosome and sperm quality on the clinical result of insisted reproductive technique (ART). Methods We retrospectively analyzed the effect of ab-normality Y chromosome and sperm quality on embryo quality/result of pregnancy of patients undergoing ART. In-fertile men with normality Y chromosome (n=436) and with abnormality Y chromosome (n =146) from Jan 2010 to Dec 2010 were enrolled in this study. The infertile men were divided into four groups: the normality Y chromo-some plus teratozoospermia group , the normality Y chromosome plus normal sperm quality group , the abnormalitychromosome plus teratozoospermia group, the abnormality Y chromosome plus normal sperm quality group. Embryo quality and the results of clinic pregnancy outcome were analyzed among the four groups. Results Fertilization rate of the four groups was 73.4%, 69.0%, 70.9% and 68%, respectively (P < 0.05). No significant differences were found in thecleavage rate, optimal embryo rate and pregnancy outcome among the four groups. Conclusions Both abnormality Y chromosome length and teratozoospermia may be affect the fertility rate of the infertile men undergoing IVF/ICSI.%目的:了解在辅助生殖技术(insisted reproductive techniques,ART)中 Y 染色体长度异常患者的精液质量情况,并按不同精液质量分组,讨论其胚胎质量、临床妊娠结局及意义。方法:通过回顾性分析2010年1月1日至2010年12月31日在中心进行辅助生殖助孕的患者共2739周期,染色体检查682例,其中染色体正常436(63.93%),合并畸形精子症196例,染色体长度异常共146例(Y =22,139例;Y =18,7例),占5.33%,合并畸形精子症73例。将患者分为染色体长度正常组和染色体长度异常组,再分精子形态正常组、精子形态异常组2个亚组,共4组,即染色体长度正常且精子形态正常组(组1),染色体长度正

  1. Application of the FICTION technique for the simultaneous detection of immunophenotype and chromosomal abnormalities in routinely fixed, paraffin wax embedded bone marrow trephines.

    Korac, P; Jones, M; Dominis, M; Kusec, R; Mason, D Y; Banham, A H; Ventura, R A

    2005-12-01

    The use of interphase fluorescence in situ hybridisation (FISH) to study cytogenetic abnormalities in routinely fixed paraffin wax embedded tissue has become commonplace over the past decade. However, very few studies have applied FISH to routinely fixed bone marrow trephines (BMTs). This may be because of the acid based decalcification methods that are commonly used during the processing of BMTs, which may adversely affect the suitability of the sample for FISH analysis. For the first time, this report describes the simultaneous application of FISH and immunofluorescent staining (the FICTION technique) to formalin fixed, EDTA decalcified and paraffin wax embedded BMTs. This technique allows the direct correlation of genetic abnormalities to immunophenotype, and therefore will be particularly useful for the identification of genetic abnormalities in specific tumour cells present in BMTs. The application of this to routine clinical practice will assist diagnosis and the detection of minimal residual disease.

  2. 二代测序技术检测早期自然流产胚胎染色体异常%Detection of chromosome abnormality by next-generation sequencing technology of miscarried embryo in the first-trimester

    刘丽; 徐凤琴; 邸建永; 刘清华; 李毅

    2015-01-01

    Objective To investigate the clinical values of next-generation sequencing (NGS) technology in diagnosis of miscarried chorionic villi genetic disorders. Methods Patients who underwent miscarriage (n=87) were enrolled in this study. Among all patients, 32 cases were of recurrent miscarrage and 55 cases were of sporadic miscarriage. In all collected patients, 35 women were 35 years or older while other 52 women were less than 35 years old. Positive detection rate and the abnormal detection rate were compared between these two methods. Chromosomes abnormal rates were also compared among different types of miscarrage and different ages. All aborted villi tissue were analyzed by NGS of whole genome and G-band⁃ing karyotype. Results The successful detection rate of chorionic villi by NGS (100.00%) was higher than that of G-band⁃ing karyotype (74.71%), and the detection rate of abnormal chorionic villi by NGS (58.62%) was also higher than that of G-banding karyotype (50.77%). Three cases of chromosome structure anomaly were found in those 51 chromosome anomalies (5.88%). Other 48 cases of chromosome anomalies were aneuploidy anomalies (94.12%) include 39 cases of trisomy, 2 cases of double trisomy and 1 case of triple trisomy and 6 cases of monomer. On the other hand, 32 cases of chromosome aneuploi⁃dy anomalies were found in 33 chromosome anomalies by G-banding karyotype, which include 24 cases of trisomy, 2 cases of double trisomy, 1 case of triple trisomy, 5 cases of monomer and 1 case of chromosome structure anomaly. Most NGS re⁃sults (n=64) were in agreement with G-banding karyotype but with 1 case of discrepancy. Chromosomal abnormality rate de⁃tected by NGS in sporadic miscarrage group and recurrent spontaneous miscarrage group were 60.00%and 56.25%respective⁃ly. There was no significant difference (P>0.05). Chromosomal abnormality rate picked by NGS in women aged≥35 years old (71.43%) was higher than that in women<35 years old (50.00%) with

  3. Application of FISH in prenatal diagnosis of chromosome number abnormality in amniotic fluid cells%FISH在产前羊水细胞染色体数目异常诊断中的应用观察

    张艳丽; 李华锋; 高刚

    2011-01-01

    Objective To observe effect of fluorescence in situ hybridization(FISH) on prenatal diagnosis of abnormal number of chromosomes in amniotic fluid cells. Methods The amniotic fluid of 1 121 cases of pregnant women with down syndrome screening in high-risk or age higher than 35 years old, were got by amniocentesis, and udenvent rapid prenatal diagnosis by FISH. Then the G banding karyotypes from standard cytogenetic analysis after cultured amniotic fluid cells were compared to the FISH results. Results 16 cases were found abnormal result, including 7 cases of trisomy 21 , 4 cases of trisomy 21, and other 5 cases with abnormal. It was consistent with G banding karyotypes results. Conclusion Prenatal diagnosis of chromosome humber sbnormality by FISH is satisfactory.%目的 观察应用荧光原位杂交( FISH)技术产前诊断羊水细胞染色体数目异常的效果.方法 唐氏综合征筛查高危或高龄(≥35岁)孕妇1 121例,经腹部穿刺抽取羊水,应用FISH技术进行羊水细胞染色体数目检测,并将其结果与羊水细胞常规G显带核型分析结果作比较.结果 均获得诊断结果,发现16例异常胎儿,其中7例为21三体,4例为18三体,5例为其他异常.FISH检测与核型分析结果一致.结论 用FISH产前诊断羊水细胞染色体数目异常效果满意.

  4. Knockdown of UCHL5IP causes abnormalities in γ-tubulin localisation, spindle organisation and chromosome alignment in mouse oocyte meiotic maturation.

    Wang, Ya-Peng; Qi, Shu-Tao; Wei, Yanchang; Ge, Zhao-Jia; Chen, Lei; Hou, Yi; Ouyang, Ying-Chun; Schatten, Heide; Zhao, Jian-Guo; Sun, Qing-Yuan

    2013-01-01

    UCHL5IP is one of the subunits of the haus complex, which is important for microtubule generation, spindle bipolarity and accurate chromosome segregation in Drosophila and human mitotic cells. In this study, the expression and localisation of UCHL5IP were explored, as well as its functions in mouse oocyte meiotic maturation. The results showed that the UCHL5IP protein level was consistent during oocyte maturation and it was localised to the meiotic spindle in MI and MII stages. Knockdown of UCHL5IP led to spindle defects, chromosome misalignment and disruption of γ-tubulin localisation in the spindle poles. These results suggest that UCHL5IP plays critical roles in spindle formation during mouse oocyte meiotic maturation.

  5. 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 ...

  6. The relationship between high risk of prenatal serological screening for Down's syndrome and chromosomal abnormalities%唐氏综合征产前血清学筛查高风险与染色体异常的关系

    吴坚柱; 陈宝江; 陈健生; 谢英俊; 林少宾

    2011-01-01

    摘要;目的 探讨联合高龄和超声异常因素对唐氏综合征产前血清学筛查检出染色体异常的影响.方法 对2005年1月至2010年4月1598例因唐氏综合征产前血清学筛查高风险来中山大学附属第一医院就诊的患者行胎儿染色体核型分析,分成血清学筛查高风险组、血清学筛查高风险合并高龄组、血清学筛查高风险合并超声异常组和血清学筛查高风险合并高龄、超声异常组4组,分析和比较各组染色体异常检出情况.结果 血清学筛查高风险合并高龄、超声异常组和血清学筛查高风险合并超声异常组的21三体阳性率和染色体异常率均显著高于血清学筛查高风险组;血清学筛查高风险合并高龄组的21三体阳性率和染色体异常率与血清学筛查高风险组的差异无统计学意义;血清学筛查高风险合并高龄、超声异常组的21三体阳性率显著高于血清学筛查高风险合并超声异常组.结论 唐氏综合征产前血清学筛查高风险合并其他产前诊断指征越多,患唐氏综合征的可能性越大,其中超声异常影响最大,高龄影响较小.%Objective; To investigate the influence of detecting chromosomal abnormalities in prenatal serological screening for Down's syndrome when combined with factors of advanced age and ultrasonic abnormalities. Methods: 1598 cases were chosen. All patients were done fetal karyotype analysis for high risk of prenatal serological screening for Down's syndrome. They were divided into four groups; high risk of serological screening, high risk of serological screening complicating with advanced age, high risk of serologi-cal screening complicating with ultrasonic abnormalities and high risk of serological screening complicating with advanced age and ultra-sonic abnormalities. Compare the detection of chromosomal abnormalities in the groups. Results: Positive rate of trisomy 21 and chro-mosome abnormal rate were significant

  7. 羊膜腔穿刺用于胎儿染色体异常产前诊断的评价%Prenatal diagnosis value of amniocentesis for fetal chromosome abnormality

    宋亦军; 刘丛丛; 刘俊涛; 边旭明

    2012-01-01

    Objective: To evaluate the prenatal diagnosis value of amniocentesis for aneuploidy. Methods: The amniocentesis was performed in 2nd trimester from Jan. 2005 to Dec. 2009 in prenatal diagnosis center of Peking Union Medical College Hospital. The data including the indication of amniocentesis, diagnosis results, procedure related miscarriage rate were retrospectively analyzed. Results: A total of 5,204 cases of amniocentesis were included in the analysis with 100% success rate. Among them, 93 cases of chromosome abnormality were found in 3,385 women in advanced maternal age (≥35 years old), and 50 cases of chromosome abnormality were found in the 1,846 women below 35 years. A total of 143 cases (2. 75%) of chromosome abnormality were diagnosed, forty-six (32. 2%) of them were trisomy 21, 18, 13, X, Y, which may cause severe malformation deformity. Among the 46 cases of severe chromosome abnormality, thirty (65. 2%) were women with advanced maternal age, while other 16 cases (34.8%) were women of age below 35 years. Seventeen cases of sex chromosome aneuploidy were diagnosed with 11 cases (64. 7%) in women with advanced maternal age and 6 cases (35. 3%) in women below 35 years. Procedure related miscarriage rate were 0. 13%. Conclusions; Amniocentesis with the assistant of instant ultrasound guidance was a reliable and relatively safe invasive prenatal diagnosis method in 2nd trimester. More accurate screening methods were needed to increase the detection rate and decrease the procedure related complication.%目的 评价孕中期羊膜腔穿刺进行胎儿非整倍体产前诊断的诊断率及安全性. 方法 回顾性总结北京协和医院产前诊断中心2005年1月至2009年12月进行的超声即时定位羊膜腔穿刺病例.对羊膜腔穿刺的指征、诊断结果、流产率等进行分析. 结果 共分析5,204例羊膜腔穿刺病例.羊膜腔穿刺成功率100%.其中高龄(≥35岁)组3,358例,发现染色体异常93例;低龄(<35岁)组1

  8. FISH技术在检测自然流产胚胎染色体异常中的应用研究%A clinical research on chromosomal abnormality in spontaneous aborted fetuses detected by fluorescent in situ hybridization

    韦红卫; 杜娟; 夏红卫; 蒋丽; 陈科

    2012-01-01

    Objective; To investigate the application value on detection the chromosome abnormalities of chorionic villi tissue of spontaneous abortion by FISH technology. Methods: The chromosomal numerical aberrations were detected in 100 cases of chorionic villi tissue of spontaneous abortion in early pregnancy by using FISH, and some cases results were compared with the parallel experiment with cytogenetic karyotypes analysis. Results; Success rate of FISH detection wasl00% for100 cases of chorionic villi tissue of spontaneous abortion, and 42 of the 100 cases were found chromosomal numerical aberrations, detection rate 42%. 23 of the 100 cases were cultured, the cultural success rate was 91. 30% (21/23), chromosome abnormalities rate was 61. 91% (13/21), 11 case with chromosome aneuploid of 13 cases with chromosome abnormalities account for 84. 61% (11/13). The coincidence rate of the results of FISH detection and cytogenetic karyotypes analysis were 100% , the missed diagnosis rate was 23.08% (3/13). Conclusions ; The results showed that FISH technology was sensitive, highly specific, rapid and low demand for samples and so on, but the missed diagnosis rate was high, and if condition permit, the patient should take FISH detection and cytogenetic karyotypes analysis simultaneously.%目的 探讨FISH技术在检测自然流产绒毛组织染色体异常中的应用价值.方法 采用FISH技术对100例早期妊娠自然流产绒毛进行染色体数目检测,部分病例同时行常规细胞培养核型分析,分析两种方法的诊断结果.结果 100例绒毛标本FISH检测成功率100%,染色体数目异常42例,检出率42.00%.23例标本同时细胞培养,培养成功率91.30% (21/23),核型分析异常染色体比率61.91% (13/21),其中非整倍体占84.61% (11/13).FISH检测结果与染色体核型分析吻合率100%,漏诊率23.08% (3/13).结论 FISH技术具有敏感性高、特异性强、诊断快速、对标本要求低等优势,但漏诊率

  9. Rapid screening for chromosomal aneuploidies using array-MLPA

    van Beuningen Rinie

    2011-05-01

    Full Text Available Abstract Background Chromosome abnormalities, especially trisomy of chromosome 21, 13, or 18 as well as sex chromosome aneuploidy, are a well-established cause of pregnancy loss. Cultured cell karyotype analysis and FISH have been considered reliable detectors of fetal abnormality. However, results are usually not available for 3-4 days or more. Multiplex ligation-dependent probe amplification (MLPA has emerged as an alternative rapid technique for detection of chromosome aneuploidies. However, conventional MLPA does not allow for relative quantification of more than 50 different target sequences in one reaction and does not detect mosaic trisomy. A multiplexed MLPA with more sensitive detection would be useful for fetal genetic screening. Methods We developed a method of array-based MLPA to rapidly screen for common aneuploidies. We designed 116 universal tag-probes covering chromosomes 13, 18, 21, X, and Y, and 8 control autosomal genes. We performed MLPA and hybridized the products on a 4-well flow-through microarray system. We determined chromosome copy numbers by analyzing the relative signals of the chromosome-specific probes. Results In a blind study of 161 peripheral blood and 12 amniotic fluid samples previously karyotyped, 169 of 173 (97.7% including all the amniotic fluid samples were correctly identified by array-MLPA. Furthermore, we detected two chromosome X monosomy mosaic cases in which the mosaism rates estimated by array-MLPA were basically consistent with the results from karyotyping. Additionally, we identified five Y chromosome abnormalities in which G-banding could not distinguish their origins for four of the five cases. Conclusions Our study demonstrates the successful application and strong potential of array-MLPA in clinical diagnosis and prenatal testing for rapid and sensitive chromosomal aneuploidy screening. Furthermore, we have developed a simple and rapid procedure for screening copy numbers on chromosomes 13, 18

  10. Mammalian chromosomes contain cis-acting elements that control replication timing, mitotic condensation, and stability of entire chromosomes.

    Thayer, Mathew J

    2012-09-01

    Recent studies indicate that mammalian chromosomes contain discrete cis-acting loci that control replication timing, mitotic condensation, and stability of entire chromosomes. Disruption of the large non-coding RNA gene ASAR6 results in late replication, an under-condensed appearance during mitosis, and structural instability of human chromosome 6. Similarly, disruption of the mouse Xist gene in adult somatic cells results in a late replication and instability phenotype on the X chromosome. ASAR6 shares many characteristics with Xist, including random mono-allelic expression and asynchronous replication timing. Additional "chromosome engineering" studies indicate that certain chromosome rearrangements affecting many different chromosomes display this abnormal replication and instability phenotype. These observations suggest that all mammalian chromosomes contain "inactivation/stability centers" that control proper replication, condensation, and stability of individual chromosomes. Therefore, mammalian chromosomes contain four types of cis-acting elements, origins, telomeres, centromeres, and "inactivation/stability centers", all functioning to ensure proper replication, condensation, segregation, and stability of individual chromosomes.

  11. XYY chromosome anomaly and schizophrenia.

    Rajagopalan, M; MacBeth, R; Varma, S L

    1998-02-07

    Sex chromosome anomalies have been associated with psychoses, and most of the evidence is linked to the presence of an additional X chromosome. We report a patient with XYY chromosome anomaly who developed schizophrenia.

  12. FISH技术检测自然流产或死胎死产组织中染色体异常的临床研究%Clinical study of chromosomal abnormality in spontaneous abortion tissue or stillbirth tissue detected by fluorescence in situ hybridization technique

    崔洪艳; 陈叙; 岳天孚

    2011-01-01

    Objective; To explore the total incidence of chromosomal abnormality, types of chromosomal abnormality and incidences of various chromosomal abnormalities in spontaneous abortion tissue or stillbirth tissue. Methods; Centromere probes of 18, X and Y chromosomes and single sequence probes of 13, 16, 21 and 22 chromosomes were used for fluorescence in situ hybridization (FISH) detection among 100 samples of spontaneous abortion tissue or stillbirth tissue. Results; 55% of spontaneous abortion or stillbirth were caused by fetal chromosomal abnormality; the top three types of chromosomal abnormality were trisomy 16, trisomy 22 and triploid, accounting for 34. 88% , 16. 28% and 11. 63% of the total number of chromosomal abnormality, respectively. Conclusion; Most spontaneous abortion or stillbirth are caused by genetic gene defect, FISH technique can detect aborted fetuses, find chromosomal abnormality rapidly and accurately, provide data for genetic counseling of subsequent pregnancy.%目的:探讨自然流产或死胎死产胎儿组织细胞中染色体异常总发生率及异常种类和各种异常的发生率.方法:采用18号、X和Y染色体着丝粒探针及13、16、21、22号染色体单一序列探针,对100例自然流产或死胎死产胎儿组织进行FISH检测.结果:55%的自然流产或死胎死产是由胎儿染色体异常引起的;染色体异常的前3位为16-三体综合征、22-三体综合征和三倍体,分别占染色体异常总发生数的34.88%、16.28%和11.63%.结论:自然流产或死胎死产多由遗传基因缺陷引起,应用FISH技术检测流产胚胎,可以快速、准确发现较常见的染色体异常,为下一胎妊娠进行遗传咨询提供资料.

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

    涂向东; 张宝珍; 曾健; 丛学文; 王志红; 周游

    2011-01-01

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

  14. Study on prenatal screening of birth defect and fetal chromosomal abnormality%产前筛查先天性缺陷与胎儿染色体异常的研究

    钟可文; 陈朝轩; 潘景良; 张应华

    2011-01-01

    Objective; To explore the junction and value of serum markers during the second trimester of pregnancy in prenatal screening of birth defect and fetal chromosomal abnormality. Methods; The serum levels of alpha fetal protein ( AFT), β - human chorionic gonadotropin ( β - HCC) and unconjugated eslriol among 2 555 pregnant women during the second trimester of pregnancy (14-22 gestation-al weeks) were detected, then risk probability was calculated combining maternal age, gestational weeks, body weight, twin pregnancy or not, diabetes mellitus or not on software; the high risk pregnant women were defined by chromosomal examination. Results; Among 2 555 pregnant women, 210 pregnant women were found with high risk of Downs syndrome, accounting for 8. 2% ; 26 pregnant women were found with high risk of trisomy 18 syndrome, accounting for 1.0% ; 29 pregnant women were found with high risk of neural tube defect, accounting for 1. 1%. Among the high risk pregnant women, 207 pregnant women received chromosomal examination of amniotic fluid cells or chromosomal examination of fetal umbilical cord blood, 12 pregnant women were found with abnormal chromosomal karyotype, the abnormal rate was 5. 8%. Conclusion; Triple markers screening during the second trimester of pregnancy is an effective method to screen fetal congenital defects, which can be used as a conventional method for prenatal screening.%目的:探讨孕中期血清标志物在产前筛查先天性缺陷与胎儿染色体异常中的作用和价值.方法:对2 555例孕中期(14 ~22周)孕妇血清AFP、β- hCG、和uE3三项指标进行检测,并结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病等,采用仪器配套软件计算风险概率,对高风险孕妇进行染色体检查确认.结果:2 555例孕妇中筛查出唐氏综合征高风险210例,占8.2%,18-三体高风险26例,占1.0%,NTD高风险29例,占1.1%,高风险孕妇中有207例自愿进行了羊水细胞染色体检查或胎

  15. Análise do rastreamento combinado no primero trimestre da gestação para detecção de anomalias cromossômicas Analysis of the combined first trimester screening for chromosomal abnormalities

    Carolina Leite Drummond

    2011-06-01

    Full Text Available OBJETIVO: avaliar o desempenho do rastreamento combinado do primeiro trimestre da gestação na detecção de anomalias cromossômicas em um grupo da população brasileira. MÉTODO: estudo retrospectivo envolvendo gestantes com feto único, referidas ao setor de medicina fetal para a realização do teste de rastreamento do primeiro trimestre da gestação pela combinação da idade materna, a medida da translucência nucal e dois marcadores bioquímicos do soro materno: free B-hCG e PAPP-A. Para avaliar o desempenho do teste foram calculados a sensibilidade, especificidade, valores preditivos positivos e negativos e as taxas de falso positivo, considerando como risco elevado valores superiores a 1:300. RESULTADOS: foram incluídas 456 gestantes submetidas ao teste. A idade materna avançada, acima de 35 anos, ocorreu em 36,2% dos casos. A incidência de cromossomopatia na população estudada foi de 2,2%. Vinte e uma das gestantes (4,6% apresentou risco elevado ao teste (superior a 1:300. Usando-se este ponto de corte, a sensibilidade do teste foi de 70% para as cromossomopatias em geral e 83,3% para os casos de trissomia do cromossomo 21, com taxa de falso positivo de 3,1%. CONCLUSÃO: o rastreamento combinado do primeiro trimestre foi eficaz na detecção das anomalias cromossômicas, principalmente em relação aos casos de trissomia 21, com baixas taxas de falso positivo. Observou-se importante contribuição do teste em reduzir a indicação do exame invasivo comparado ao uso da idade materna como fator de risco.PURPOSE: to evaluate the performance of the combined first trimester screening for chromosomal abnormalities in a group of the Brazilian population. METHODS: a retrospective study including pregnant women with single fetuses referred to a fetal medicine center to perform the first trimester screening that combines maternal age, nuchal translucency measurement and two maternal serum biochemical markers: free B-hCG and PAPP-A. To

  16. 产前超声检查在诊断染色体非整倍体异常胎儿中的价值%Application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities

    钟惟娜; 邓学东

    2012-01-01

    目的 探讨产前超声检查在非整倍体异常胎儿诊断中的价值.方法 对2009年9月至2011年12月在我院经羊水细胞染色体核型分析诊断为非整倍体异常的24例胎儿产前超声异常声像图特征进行总结分析.结果 24例羊水细胞染色体核型分析确诊为非整倍体异常的胎儿中超声显示异常20例(83.3%,20/24),包括21-三体9例(9/13)、18-三体3例(3/3)、13-三体3例(3/3)、45,X 5例(5/5).其中单发畸形4例(20%,4/20),多发畸形13例(65%,13/20),仅表现为超声软标志异常3例(15%,3/20).18-三体、13-三体及45,X胎儿均有超声可检出的明显结构畸形或异常,21-三体胎儿3例,仅表现为超声软标志异常.24例非整倍体异常胎儿中以心脏畸形检出例数居多(41.7%,10/24),而颈部淋巴水囊瘤是45,X胎儿一个极其重要的超声标志.结论 非整倍体异常胎儿常伴有异常的超声声像图表现,部分还有相应的典型超声畸形谱,超声作为非侵入性检查技术对于非整倍体异常胎儿的诊断有重要临床意义.%Objective To investigate the clinical application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities . Methods Ultrasound imaging features in 24 aneuploidy abnormal fetuses which were diagnosed by amniocentesis in our hospital from September 2009 to December 2011 were analyzed retrospectively. Results Twenty -four cases of aneuploidy abnormalities dectected by amniocentesis were examined by prenatal ultrasound. Of these cases, twenty were found abnormalities , including 9 with trisomy 21,3 with trisomy 18,3 with trisomy 13 and 5 with 45 ,X monomer. Prenatal ultrasound showed single malformation in 4 cases, multi-malformation in 13 cases and separate ultrasonographic soft markers in 3 cases. Fetuses with trisomy 18,trisomy 13 and 45,X monomer were all had obvious structural abnormalities detected by ultrasound , otherwise, 3 cases of trisomy 21 had only ultrasonographic soft markers. In

  17. High EVI1 levels predict adverse outcome in acute myeloid leukemia: prevalence of EVI1 overexpression and chromosome 3q26 abnormalities underestimated.

    Lugthart, Sanne; van Drunen, Ellen; van Norden, Yvette; van Hoven, Antoinette; Erpelinck, Claudia A J; Valk, Peter J M; Beverloo, H Berna; Löwenberg, Bob; Delwel, Ruud

    2008-04-15

    Inappropriate expression of EVI1 (ecotropic virus integration-1), in particular splice form EVI1-1D, through chromosome 3q26 lesions or other mechanisms has been implicated in the development of high-risk acute myeloid leukemia (AML). To validate the clinical relevance of EVI1-1D, as well as of the other EVI1 splice forms and the related MDS1/EVI1 (ME) gene, real-time quantitative polymerase chain reaction was performed in 534 untreated adults with de novo AML. EVI1-1D was highly expressed in 6% of cases (n = 32), whereas 7.8% were EVI1(+) (n = 41) when all splice variants were taken into account. High EVI1 predicted a distinctly worse event-free survival (HR = 1.9; P = .002) and disease-free survival (HR = 2.1, P = .006) following multivariate analysis. Importantly, we distinguished a subset of EVI1(+) cases that lacked expression of ME (EVI1(+)ME(-); n = 17) from cases that were ME(+) (EVI1(+)ME(+); n = 24). The atypical EVI1(+)ME(-) expression pattern exhibited cytogenetically detectable chromosomal 3q26 breakpoints in 8 cases. Fluorescence in situ hybridization revealed 7 more EVI1(+)ME(-) cases that carried cryptic 3q26 breakpoints, which were not found in the EVI1(+)ME(+) group. EVI1(+)ME(-) expression predicts an extremely poor prognosis distinguishable from the general EVI1(+) AML patients (overall survival [OS]: P < .001 and event-free survival [EFS]: P = .002). We argue that EVI1/ME quantitative expression analysis should be implemented in the molecular diagnostic procedures of AML.

  18. Chromosomal Abnormality and Y Chromosome Microdeletion in Chinese Patients with Azoospermia or Severe Oligozoospermia%中国无精症、严重寡精症患者的染色体异常和Y染色体微缺失

    阿周存; 杨元; 张思仲; 张炜; 林立

    2006-01-01

    Chromosomal abnormality and Y chromosome microdeletion are regarded as two frequent genetic causes associated with spermatogenic failure in Caucasian population. To investigate the distribution of the two genetic defects in Chinese patients with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 358 idiopathic infertile men, including256 patients with azoospermia and 102 patients with severe oligozoospermia, and screening of AZF region microdeletion of Y chromosome by multiplex PCR was performed in those patients without detectable chromosomal abnormality and 100 fertile controls. Of 358 patients, 39(10.9%) were found to have chromosomal abnormalities in which Klinefelter's syndrome (47, XXY) was the most common chromosomal aberration. The incidence of sex chromosomal abnormality in patients with azoospermia was significantly higher than that in patients with severe oligozoospermia (12.1% vs 1%). Among the rest of the 319 patients with normal karyotype, 46 (14.4%) were found to have microdeletions in AZF region. The prevalence rates of AZF microdeletion was 15% and13.1% in patients with azoospermia and severe oligozoospermia respectively. The microdeletion in AZFc was the most frequent deletion and all the microdeletions in AZFa were found in azoospermic patients. No microdeletion in AZF region was detected in fertile controls. In conclusion, chromosomal abnormality and AZF region microdeletion of Y chromosome might account for about25% of Chinese infertile patients with azoospermia or severe oligozoospermia, suggesting the two abnormalities are important genetic etiology of spermatogenic failure in Chinese population and it is essential to screen them during diagnosis of male infertility before in vitro assisted fertilization by introcytoplasmic sperm injection.%染色体异常和Y染色体微缺失被认为是两个白种人群中常见的生精障碍相关遗传因素.为了解中国无精症、严重寡精症患者中的

  19. [Cytogenetic abnormalities and gene mutations in myeloid leukemia].

    Kato, Naoko; Kitamura, Toshio

    2009-10-01

    Myeloid leukemia is a clinically and genetically heterogeneous disease. Cytogenetic studies have revealed specific chromosomal abnormalities, such as translocations, and inversions. Fusion proteins derived from these abnormalities were identified in various subtypes of leukemia. Because most of these fusion proteins were not sufficient to induce leukemia by themselves in mouse models, additional oncogenic events have been thought to be necessary for leukemogenesis. Recently, a hypothesis called "two-hit model" for leukemia has been proposed. Two broad classes of mutations that proliferative or survival advantage of hematopoietic progenitors and impaired differentiation are required for inducing leukemia. In this article, we summarize some typical chromosomal abnormalities or gene mutations associated with myeloid leukemia on the basis of this hypothesis.

  20. Trisomy 14 as a Sole Chromosome Abnormality Is Associated with Older Age, a Heterogenous Group of Myeloid Neoplasms with Dysplasia, and a Wide Spectrum of Disease Progression

    Wei Cui

    2010-01-01

    Full Text Available Trisomy 14 is a rare recurrent cytogenetic abnormality in myeloid neoplasms; however, its clinicopathologic features have not been well described. We report the clinicopathologic, immunophenotypic, and molecular genetic features of 16 cases of myeloid neoplasms with isolated trisomy 14. Our results show that cases with isolated trisomy 14 encompass a heterogenous group of myeloid neoplasms including myelodysplastic syndrome (MDS, 44%, myelodysplastic/myeloproliferative neoplasms (31%, and acute myeloid leukemia (25%. The patients are usually elder (median age 71 years, and there is a male predominance (82%. Multilineage dysplasia is noted in all cases. Oncogenic mutations of genes involved in cell proliferation and/or survival rarely occur. Compared with cases of MDS with diploid karyotype, patients of MDS with isolated trisomy 14 demonstrate a similar overall survival and rate of leukemia transformation.

  1. Concomitant malformations and chromosomal abnormalities in prenatally diagnosed congenital diaphragmatic hernia%胎儿先天性膈疝及其相关异常的产前诊断

    郑菊; 谢红宁; 李丽娟; 林美芳; 朱云晓

    2010-01-01

    Objective To analyze the concomitant malforrnations,chromosomal abnormalities and outcomes in prenatally diagnosed congenital diaphragmatic hernia (CDH) cases. Methods Cases of fetal CDH,prenatally identified in the First Affiliated Hospital of Sun Yat-sen University from January 2002 to November 2008,were recruited.The concomitant realformations,chromosomal abnormalities and outcomes of fetal CDlH were analyzed.Fisher's exact test was applied. Results During the study period,71 CDH cases were identified including 62(87.3%) left-sided CDH and 9 (12.7%) right-sided ones.Among the 71 CDH fetuses,38(53.5%)were isolated CDH.33 (46.5%)were complicated with other realformations(complex CDH),including 18(54.5 0A) cardiovascular defects,10 (30.3%)central nervous system abnormalities,9(27.2 0A)genitourinary abnormalities and others.Fetal karyotying was performed in 19 out of the 71 CDH fetuses.among which 12 were isolated CDH cases with normal karyotype,and 4 of the rest 7(4/7)complex CDH cases with chromosomal abnormalities showing a significant differenee compared to the isolated CDH (P.0.009).Sixty-five pregnancies were terminated including all complex CDH(n=33)and 32 isolated CDH.The rest 6 isolated CDH fetuses were term delivered and 5 of them survived after repair of diaphragmatic hernia and one died after birth. Conclusions Left-sided CDH are more common than right-sided ones. Approximately half of the CDH cases are complicated with other malformations,especially cardiovascular abnormalities.The risk of chromosomal abnormalities increases in complex CDH and is relatively low in isolated CDH.The influence of surgical procedure on the prognosis of CDH has not yet determined.%目的 分析胎儿先天性膈疝与合并其他畸形及染色体异常的相关性,探讨可能影响膈疝预后的因素. 方法 总结2002年1月至2008年11月在我院产前超声诊断的胎儿膈疝病例,分析其类型、合并畸形种类、与染色体异常的关系及临床结局.

  2. Unique geometry of sister kinetochores in human oocytes during meiosis I may explain maternal age-associated increases in chromosomal abnormalities

    Jessica Patel

    2016-02-01

    Full Text Available The first meiotic division in human oocytes is highly error-prone and contributes to the uniquely high incidence of aneuploidy observed in human pregnancies. A successful meiosis I (MI division entails separation of homologous chromosome pairs and co-segregation of sister chromatids. For this to happen, sister kinetochores must form attachments to spindle kinetochore-fibres emanating from the same pole. In mouse and budding yeast, sister kinetochores remain closely associated with each other during MI, enabling them to act as a single unified structure. However, whether this arrangement also applies in human meiosis I oocytes was unclear. In this study, we perform high-resolution imaging of over 1900 kinetochores in human oocytes, to examine the geometry and architecture of the human meiotic kinetochore. We reveal that sister kinetochores in MI are not physically fused, and instead individual kinetochores within a pair are capable of forming independent attachments to spindle k-fibres. Notably, with increasing female age, the separation between kinetochores increases, suggesting a degradation of centromeric cohesion and/or changes in kinetochore architecture. Our data suggest that the differential arrangement of sister kinetochores and dual k-fibre attachments may explain the high proportion of unstable attachments that form in MI and thus indicate why human oocytes are prone to aneuploidy, particularly with increasing maternal age.

  3. Unique geometry of sister kinetochores in human oocytes during meiosis I may explain maternal age-associated increases in chromosomal abnormalities.

    Patel, Jessica; Tan, Seang Lin; Hartshorne, Geraldine M; McAinsh, Andrew D

    2015-12-30

    The first meiotic division in human oocytes is highly error-prone and contributes to the uniquely high incidence of aneuploidy observed in human pregnancies. A successful meiosis I (MI) division entails separation of homologous chromosome pairs and co-segregation of sister chromatids. For this to happen, sister kinetochores must form attachments to spindle kinetochore-fibres emanating from the same pole. In mouse and budding yeast, sister kinetochores remain closely associated with each other during MI, enabling them to act as a single unified structure. However, whether this arrangement also applies in human meiosis I oocytes was unclear. In this study, we perform high-resolution imaging of over 1900 kinetochores in human oocytes, to examine the geometry and architecture of the human meiotic kinetochore. We reveal that sister kinetochores in MI are not physically fused, and instead individual kinetochores within a pair are capable of forming independent attachments to spindle k-fibres. Notably, with increasing female age, the separation between kinetochores increases, suggesting a degradation of centromeric cohesion and/or changes in kinetochore architecture. Our data suggest that the differential arrangement of sister kinetochores and dual k-fibre attachments may explain the high proportion of unstable attachments that form in MI and thus indicate why human oocytes are prone to aneuploidy, particularly with increasing maternal age.

  4. Somatic pairing of chromosome 19 in renal oncocytoma is associated with deregulated EGLN2-mediated [corrected] oxygen-sensing response.

    Julie M Koeman

    Full Text Available Chromosomal abnormalities, such as structural and numerical abnormalities, are a common occurrence in cancer. The close association of homologous chromosomes during interphase, a phenomenon termed somatic chromosome pairing, has been observed in cancerous cells, but the functional consequences of somatic pairing have not been established. Gene expression profiling studies revealed that somatic pairing of chromosome 19 is a recurrent chromosomal abnormality in renal oncocytoma, a neoplasia of the adult kidney. Somatic pairing was associated with significant disruption of gene expression within the paired regions and resulted in the deregulation of the prolyl-hydroxylase EGLN2 [corrected] a key protein that regulates the oxygen-dependent degradation of hypoxia-inducible factor (HIF. Overexpression of EGLN2 [corrected] in renal oncocytoma increased ubiquitin-mediated destruction of HIF and concomitantly suppressed the expression of several HIF-target genes, including the pro-death BNIP3L gene. The transcriptional changes that are associated with somatic pairing of chromosome 19 mimic the transcriptional changes that occur following DNA amplification. Therefore, in addition to numerical and structural chromosomal abnormalities, alterations in chromosomal spatial dynamics should be considered as genomic events that are associated with tumorigenesis. The identification of EGLN2 as a significantly deregulated gene that maps within the paired chromosome region directly implicates defects in the oxygen-sensing network to the biology of renal oncocytoma.

  5. 1075例产前诊断中32例染色体异常胎儿预后分析%The prognosis analysis on the 32 cases with chromosome abnormality among 1075 cases in prenatal diagnosis

    覃婷; 田矛; 莫伟英; 施月秋

    2011-01-01

    目的 探讨胎儿染色体异常与产前诊断的高危因素的关系及胎儿预后.方法 回顾性分析2004年10月至2009年8月间在我院因各种原因行羊膜腔穿刺或脐带血穿刺产前诊断的胎儿染色体核型.结果 总共1075例产前诊断中共发现胎儿染色体异常32人,染色体异常检出率2.97%.其中检出45,XY,t(21.14)1例,双胎均为46,XX,22Pstk+1例,47,XY,+(?),1例,46,XX,t(8;16)1例,46,XY,t(1;18)1例,46,XY,t(2;14)1例,46,XX,t(11;12)1例,产前诊断指征均为夫妻双方之一染色体平衡异位.46,XY,inv(Y)1例,产前诊断指征为生育过唐氏综合征.46,XY,inv(9)10例,产前诊断指征为羊水少,单脐动脉1人,孕期使用胚胎毒性药物使用史1人,唐氏征筛查高危4人,高龄2人,地中海贫血1人.47,XXY 1例,产前诊断指征为胎儿双肾盂分离.唐氏综合征6例,产前诊断指征为唐氏征高危2人,高龄3人,NT值高1人.47,XYY 2例,产前诊断指征为唐氏征高危1人,高龄1人.47,XXY/46,XX 1例,产前诊断指征为唐氏征高危.18-三体3例,产前诊断指征为高龄1人,NT值高1人,18,13-三体高危1人.结论 夫妻双方之一染色体平衡异位胎儿染色体核型异常类型多样.唐氏综合征及18-三体胎儿常见于高龄,血清学筛查高危,NT值升高孕妇.孕11-14周B超测NT值及孕中期血清学唐氏综合征筛查可以提高产前诊断的效率,减少出生缺陷.%Objective:To study the relationship between fetal chromosome abnormality and the high risk factors of prenatal diagnosis, and fetal prognosis. Methods: To analyze the fetal chromosome karyotypes which were performed the amniocentesis or cordocentesis in prenatal diagnosis due to various reasons in our hospital from October 2004 - August 2009. Results:In 1075 cases,the number of fetal chromosome abnormality was 32 in prenatal diagnosis,and the detection rate of chromosome abnormality was 2. 97%. There was one case of 45 ,XY,t(21 ;14) ,two cases of both fetuses of 46,XX,22

  6. 产前超声检测颈部透明带厚度在胎儿染色体异常筛查中的价值%Value of detection of chromosomally abnormal fetuses by ultrasonographic nuchal translucency

    高岩冰; 崔广和; 齐春英; 孙芳

    2011-01-01

    Objective To assess the ultrasonographic detection of nuchal translucency in identifying chromosomally abnormal fetuses , so as to increase the diagnostic rate of fetal disorder in chromosomes .Methods 610 cases of single-fetus pregnant women without any complication from the Affiliated Hospital of Binzhou College of Medicine were included in this study from 2008 to 2009. All subjects without any other fetus abnormality were subject to routine prenatal ultrasonography . The thickness of fetal nuchal translucency in pregnant women with 10-13 weeks of gestation, and that of nuchal fold in those with 14-16 weeks of gestation, was measured. If the thickness of fetal nuchal translucency is higher than 3 mm, or that of nuchal fold is higher than 6 mm,then the pregnant women underwent amniocentesis or chorionic villus biopsy and analysis of fetal kaiyotype . Data of parents' behaviour were collected. Results 17 cases of pregnant women were subject to analysis of karyotype . Among of them ,8 fetuses were found to be normal karyotype and 9 were aneuploid fetuses. Fetuses with normal kaiyotype had a significantly thinner nuchal translucency , compared with the fetuses with abnormal karyotype (3. 7 mm vs. 6. 0 mm) in this study. The thickening of most cases of fetus with normal karyotype resolved automatically after the gestation of 14 weeks. Most of the fetus with chromosome ahnormalities evolved to nuchal edema or occurrence of other abnormalities in the second trimester. Parents' behaviour had little correlation with fetus chromosome abnormalities .Conclusions Detection of increased nuchal translucency in the first and second trimester . or observation of changes of nuchal translucency by serial follow -up ultrasound examinations is very important to the finding of fetuses with abnormal karyotype and the detection of high risky fetuses . On the other hand ,it is valuable to the differential diagnosis of fetus anomaly and the prognosis .%目的 评价超声检测颈部透

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

    索庆丽; 胡晞江; 刘翎; 向萍霞; 冷培

    2012-01-01

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

  8. Chromosomal Analysis of Couples with Repeated Spontaneous Abortions in Northeastern Iran

    Saeedeh Ghazaey

    2015-04-01

    Full Text Available Background: Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs. The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. Materials and Methods: In this retrospective study, the pattern of chromosomal aberrations was evaluated during a six-year period from 2005 to 2011. The population under study was 728 couples who attended genetic counseling services for their RSAs at Pardis Clinical and Genetics Laboratory, Mashhad, Iran. Results: In this study, about 11.7% of couples were carriers of chromosomal aberrations. The majority of abnormalities were found in couples with history of abortion, without stillbirth or livebirth. Balanced reciprocal translocations, Robertsonian translocations, inversions and sex chromosome aneuploidy were seen in these cases. Balanced reciprocal translocations were the most frequent chromosomal anomalies (62.7% detected in current study. Conclusion: These findings suggest that chromosomal abnormalities can be one of the important causes of RSAs. In addition, cytogenetic study of families who experienced RSAs may prevent unnecessary treatment if RSA are caused by chromosomal abnormalities. The results of cytogenetic studies of RSA cases will provide a standard protocol for the genetic counselors in order to follow up and to help these families.

  9. 应用多重连接依赖探针扩增技术快速检测胎儿染色体非整倍体与结构异常%Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies and structural chromosomal abnormalities in prenatal diagnosis

    张菁菁; 胡平; 罗春玉; 季修庆; 周静; 刘安; 马定远; 许争峰

    2014-01-01

    目的 探讨多重连接依赖探针扩增(multiplex ligation-dependent probe amplification,MLPA)技术在羊水细胞染色体非整倍体及染色体结构异常检测中的应用.方法 应用MLPA技术对286份羊水样本进行检测,并与常规染色体核型分析进行对比,对于检测到的染色体结构异常应用微阵列比较基因组杂交技术(array comparative genomic hybridization,aCGH)进行验证.结果 在286份羊水中,共检测到10例21-三体,2例18三体,1例13三体,1例嵌合21-三体,1例X单体,1例X染色体短臂大片段缺失,1例18号染色体短臂部分三体,1例18号染色体长臂和短臂大片段缺失.所有MLPA结果与染色体核型分析均一致.对于检测到的染色体结构异常均应用aCGH技术验证,检测结果符合率100%.结论 MLPA可快速检出常见染色体非整倍体以及染色体结构异常包括大片段缺失与重复,为临床产前诊断提供有价值的信息.%Objective To explore the value of multiplex ligation-dependent probe amplification (MLPA) for rapid detection of aneuploidies and structural chromosomal abnormalities during prenatal diagnosis.Methods Two hundred and eight six amniotic fluid samples were analyzed with both MLPA and conventional karyotyping.Structural abnormalities were verified with array comparative genomic hybridization.Results Ten cases of trisomy 21,2 cases of trisomy 18,1 case of trisomy 13,1 case of mosaic trisomy 21,1 case of 45,X,1 case of large deletion of Xp,1 case of trisomy 18p and 1 case of large deletion of 18p and 18q were identified.The same results were derived by both MLPA and conventional karyotyping.Structural abnormalities were verified by array comparative genomic hybridization (aCGH)with 100% accuracy.Conclusion In addition to aneuploidies,MLPA can rapidly identify large deletions and duplications of chromosomes 21,18,13,X and Y.MLPA is supplementary to conventional karyotyping for identification of such chromosomal abnormalities

  10. Electochemical detection of chromosome translocation

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli;

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two...... chromosomes that results in formation of derivative chromosomes with a mixed DNA sequence. The method currently used for their detection is Fluorescent In Situ Hybridization, which requires a use of expensive, fluorescently labeled probes that target the derivative chromosomes. We present here a double...... hybridization approach developed for label-free detection of the chromosome translocations. For specific translocation detection it is necessary to determine that the two DNA sequences forming a derivative chromosome are connected, which is achieved by two subsequent hybridization steps. The electrochemical...

  11. Prenatal Amniotic Fluid Cell Chromosome Examination in the Diagnosis of Fetal Abnormalities in the Elderly%羊膜腔穿刺羊水细胞染色体检查用于高龄孕妇胎儿畸形预见性诊断分析

    王花花

    2016-01-01

    目的:探讨高龄孕妇进行孕中期羊膜腔穿刺羊水细胞培养染色体核型分析,提高对胎儿畸形的预见性诊断分析结果。方法随机选取该院2013年1月―2015年12月收治的714例高龄孕妇给予羊膜腔穿刺前的检查及超声诊断,行羊膜腔穿刺抽取羊水的孕妇,进行羊水细胞培养,制备染色体标本,分析高龄孕妇羊水胎儿细胞的染色体核型和胎儿染色体异常情况。结果该研究选取的714例高龄孕妇中染色体异常的分类有21三体综合征、18三体综合征、性染色体异常和其它的染色体异常。有23例高龄孕妇的染色体出现异常,检出率为3.22%;714例高龄孕妇中35~39岁占450例,发现胎儿染色体异常例数9例,检出率为2..00%为最低;44~46岁高龄孕妇占31例,发现胎儿染色体异常例数为3例,检出率为9.68%为最高。结论在产前对高龄孕妇进行羊膜腔穿刺羊水细胞染色体培养可以有效的检测胎儿的染色体异常情况,有效的对高龄孕妇分娩畸形胎儿进行预见性的诊断,明显降低新生儿的缺陷率。%Objective Discussion older pregnant women were second-trimester amniocentesis amniotic fluid cells of fetal malformation predictive diagnostic analysis of cultured karyotype analysis. Methods The study selected from our hospital in January 2013 to December 2015 in 714 cases of advanced maternal age to give pre amniocentesis examination and ultra-sound diagnosis, underwent amniocentesis and amniotic fluid of pregnant women, the amniotic cell culture prepared chromo-some specimen, analysis of women of advanced maternal age and fetal amniotic fluid cells stained color karyotype and fetal chromosomal abnormalities. Results The classification of chromosomal abnormalities in 714 cases of elderly women is 21, 18,, sex chromosome abnormalities and other chromosomal abnormalities. Have abnormal chromosomes in 23 cases of ad-vanced maternal age, the

  12. 胎儿右位主动脉弓与染色体异常的相关性分析%Correlation between fetal right aortic arch and chromosome abnormality

    刘锦平; 李亮; 王静

    2016-01-01

    目的:对系统超声检出胎儿右位主动脉弓与染色体异常的相关性进行分析。方法采集2009年1月至2014年12月在我院进行系统超声产前筛查19例右位主动脉弓胎儿,所有入选右位主动脉弓胎儿均进行羊水穿刺进行染色体核型分析,评价系统超声检测出的胎儿右位主动脉弓与染色体异常之间的相关性。结果15例右位主动脉弓超声像图表现气管和食管被气管左侧的动脉导管和气管后方的迷走左锁骨下动脉围成一“U”字形血管结构;1例胎儿有双主动脉弓超声主要表现为气管和食管被左右两侧的主动脉弓环绕成一个“O”字形包绕;3例右位主动脉弓胎儿另有左位动脉导管及头臂动脉影像分支,超声图主要表现为动脉导管在三血管-气管切面上并未有显示出来,气管的前方是动脉导管,未形成血管环;19例右位主动脉弓胎儿均进行染色体核型分析,3例伴室间隔缺损、单心房、三尖瓣闭锁、肺动脉狭窄,核型为18-三体;4例伴室间隔缺损、完全性房室通道、单心房、右室双出口、肺动脉狭窄近闭锁,核型为18-三体;3例伴单心室、单心房,核型为21-三体;1例法洛四联症和1例右位心、主动脉狭窄,伴有22q11.2。结论在产前胎儿超声筛查中要重视三血管-气管切面上的超声图像,有助于提高右位主动脉弓的检出率,胎儿右位主动脉弓与18-三体、21-三体等染色体病有明显相关性,若发现胎儿右位主动脉弓,应进行染色体核型进一步分析,排除染色体病变,从而达到优生优育的目的。%Objective To analyze the correlation between fetal right aortic arch and chromosome ab-normality by ultrasound.Methods From January Jan 2009 to Dec 2014,nineteen cases with fetal right aortic arch were enrolled.They were all determined by chromosome karyotype analysis.The correlation of fetal right aortic arch and chromosome abnormalities detected

  13. Investigation on clinical outcomes of reproductive abnormalities with secondary constric﹣ tion increase polymorphism of chromosome long arm%染色体多态性qh+与临床生殖异常关系的探讨

    王桂玲; 任春娥; 姜爱芳

    2015-01-01

    目的::目的:分析染色体长臂次缢痕增加( qh+)与生殖异常的临床效应关系。方法:对2080例不孕不育患者进行常规外周血染色体核型分析。结果:2080例不孕不育患者共检出染色体多态性208例,检出率为10.0%,其中qh+患者88例,占42.31%。88例qh+患者中,男性72例,女性16例。1 qh+22例;9 qh+17例;16 qh+14例;Yqh+(46,XY,大Y)29例;46,XY,Yqh+,9qh+5例;46,XY,Yqh+,16qh+患者1例。72例男性患者中存在精子质量问题者60例,占83.33%。配偶有胚胎停育史者共12例,占16.7%,其中2次以上胚胎停育史者共8例,占11.11%;配偶有畸形儿生育史者3例。16例女性患者中有胚胎停育史者7例(43.12%),其中2次以上胚胎停育史者5例(31.25%)。结论:染色体qh+与不孕不育、复发性流产、生育畸形儿等生殖异常存在明显的相关性,不能忽视其临床效应。%Objective:To investigate the association between secondary constriction polymorphisms of chromosome long arm and clinical effects of reproductive abnormalities. Methods:Karyotypes were analyzed from peripheral blood of 2080 patients suffering infertility. Results:Detection rate of chromosomal polymorphism was 10. 0% (208/2080) of patients suf—fering infertility. 88 cases of secondary constriction increase ( qh +) were checked out (42. 31%,88/208). In 88 cases of qh+,there were 22 cases of 1qh+,17 cases of 9qh+,14 ca—ses of 16 qh+,29 cases of large Y chromosome ( Yqh+) ,5 cases of Yqh+ and 9 qh+ simultane—ously and 1 case of Yqh+ and 9qh+ simultaneously. In 72 cases of male patients,60cases of dysspermia were checked out (83. 33%,60/72). There were 12 female cases of nearly embry—onic death,the spouses of 72 male patients (16. 7%,12/72),in which 8 cases of recurrent miscarriage were detected(11. 11%,8/72),and in which 3 cases have a child with a birth de—fect. In 16 cases of female patients, 7 cases of nearly embryonic death were checked out (43. 12%,7/16),in which

  14. Normal phenotype with paternal uniparental isodisomy for chromosome 21

    Blouin, J.L.; Avramopoulos, D. (Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)); Pangalos, C.; Antonarakis, S.E.

    1993-11-01

    Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, the authors analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian translocation t(21q;21q). The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21 offspring. No phenotypic abnormalities were noted in the physical exam, and his past medical history was unremarkable. The authors obtained genotypes for the proband and his parents' leukocyte DNAs from 17 highly informative short sequence repeat polymorphisms that map in the pericentromeric region and along the entire length of 21q. The order of the markers has been previously determined through the linkage and physical maps of this chromosome. For the nine informative markers there was no maternal allele contribution to the genotype of the proband; in addition, there was always reduction to homozygosity of a paternal allele. These data indicated that there was paternal uniparental isodisomy for chromosome 21 (pUPiD21). The authors conclude that pUPiD21 is not associated with abnormal phenotypes and that there are probably no imprinted genes on chromosome 21. 36 refs., 3 figs.

  15. Addition of Arsenic Trioxide into Induction Regimens Could Not Accelerate Recovery of Abnormality of Coagulation and Fibrinolysis in Patients with Acute Promyelocytic Leukemia.

    Ye Zhang

    Full Text Available All-trans retinoic acid combined to anthracycline-based chemotherapy is the standard regimen of acute promyelocytic leukemia. The advent of arsenic trioxide has contributed to improve the anti-leukemic efficacy in acute promyelocytic leukemia. The objectives of the current study were to evaluate if dual induction by all-trans retinoic acid and arsenic trioxide could accelerate the recovery of abnormality of coagulation and fibrinolysis in patients with acute promyelocytic leukemia.Retrospective analysis was performed in 103 newly-diagnosed patients with acute promyelocytic leukemia. Hemostatic variables and the consumption of component blood were comparably analyzed among patients treated by different induction regimen with or without arsenic trioxide.Compared to patients with other subtypes of de novo acute myeloid leukemia, patients with acute promyelocytic leukemia had lower platelet counts and fibrinogen levels, significantly prolonged prothrombin time and elevated D-dimers (P<0.001. Acute promyelocytic leukemia patients with high or intermediate risk prognostic stratification presented lower initial fibrinogen level than that of low-risk group (P<0.05. After induction treatment, abnormal coagulation and fibrinolysis of patients with acute promyelocytic leukemia was significantly improved before day 10. The recovery of abnormal hemostatic variables (platelet, prothrombin time, fibrinogen and D-dimer was not significantly accelerated after adding arsenic trioxide in induction regimens; and the consumption of transfused component blood (platelet and plasma did not dramatically change either. Acute promyelocytic leukemia patients with high or intermediate risk prognostic stratification had higher platelet transfusion demands than that of low-risk group (P<0.05.Unexpectedly, adding arsenic trioxide could not accelerate the recovery of abnormality of coagulation and fibrinolysis in acute promyelocytic leukemia patients who received all

  16. Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells

    Bershteyn, Marina; Hayashi, Yohei; Desachy, Guillaume; Hsiao, Edward C.; Sami, Salma; Tsang, Kathryn M.; Weiss, Lauren A.; Kriegstein, Arnold R.; Yamanaka, Shinya; Wynshaw-Boris, Anthony

    2014-03-01

    Ring chromosomes are structural aberrations commonly associated with birth defects, mental disabilities and growth retardation. Rings form after fusion of the long and short arms of a chromosome, and are sometimes associated with large terminal deletions. Owing to the severity of these large aberrations that can affect multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have been proposed. During cell division, ring chromosomes can exhibit unstable behaviour leading to continuous production of aneuploid progeny with low viability and high cellular death rate. The overall consequences of this chromosomal instability have been largely unexplored in experimental model systems. Here we generated human induced pluripotent stem cells (iPSCs) from patient fibroblasts containing ring chromosomes with large deletions and found that reprogrammed cells lost the abnormal chromosome and duplicated the wild-type homologue through the compensatory uniparental disomy (UPD) mechanism. The karyotypically normal iPSCs with isodisomy for the corrected chromosome outgrew co-existing aneuploid populations, enabling rapid and efficient isolation of patient-derived iPSCs devoid of the original chromosomal aberration. Our results suggest a fundamentally different function for cellular reprogramming as a means of `chromosome therapy' to reverse combined loss-of-function across many genes in cells with large-scale aberrations involving ring structures. In addition, our work provides an experimentally tractable human cellular system for studying mechanisms of chromosomal number control, which is of critical relevance to human development and disease.

  17. 孕11~14周静脉导管A波倒置在胎儿染色体异常中的筛查价值%Screening Value of Reversed A-wave in Fetal Ductus Venosus with Ultrasound on Chromosome Abnormalities at 11-14 Weeks Gestation

    刘志辉; 邹翰琴; 王洁; 阳春芳; 张玉麒; 叶江; 颜嫒

    2015-01-01

    Objective To explore the clinical application value of the reversed A-wave in fetal ductus venosus assessed by ultrasound at 11~14 weeks gestation on screening fetal chromosomal abnormalities. Methods Regular antenatal examination was performed on pregnant women of 11~14 weeks gestation. The Doppler spectrum of the ductus venosus and the size of nuchal trans-lucency were conducted. The results of amniotic fluid puncture cultivate karyotype examination and the DV-RAW or NT thickening were followed up. Results Among 656 cases,DV-RAW were found in 21 cases,NT thickening were found in 19 cases,both in abnormalities were found in 12 cases. After followed-up of fetal chromosomal karyotype in 28 cases, chromosomal abnormalities were found in 17 cases,the trisomy 21 syndrome were found in 14 cases,Edwards' syndrome were found in 2 cases and 9 chromo-some structural abnormality was found only in 1 case. The sensitivity of DV-RAW in the detection of fetal chromosomal abnormali-ties was 82. 35%,the specificity was 36. 36% and the accuracy was 64. 29%. The sensitivity of NT thickening method in fetal chromosomal abnormalities was 76. 47%,the specificity was 45. 45% and the accuracy was 64. 29%. When combined the DV -RAW and NT methods,the diagnostic sensitivity was 58. 82%,the specificity was 81. 82% and the accuracy was 67. 86%. Con-clusion The reversed A-wave in fetal ductus venosus at 11~14 weeks gestation showed to be helpful in the early screening for fe-tal chromosomal abnormalities,and might help the early diagnosis of fetal abnormal chromosome karyotype.%目的 探讨孕11~14 周胎儿静脉导管A波倒置在胎儿染色体异常筛查中的临床应用价值. 方法 对11~14周的孕妇行常规产前检查,并进行静脉导管血流频谱和颈项透明层厚度检测. 随访A波倒置或颈项透明层增厚胎儿的羊水穿刺培养染色体核型检查结果. 结果 656例胎儿中,共28例异常,其中静脉导管A波倒置21例,颈项透明层增厚19

  18. Fetal chromosome analysis: screening for chromosome disease?

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...... with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications...

  19. Vibrio chromosomes share common history

    Gevers Dirk

    2010-05-01

    Full Text Available Abstract Background While most gamma proteobacteria have a single circular chromosome, Vibrionales have two circular chromosomes. Horizontal gene transfer is common among Vibrios, and in light of this genetic mobility, it is an open question to what extent the two chromosomes themselves share a common history since their formation. Results Single copy genes from each chromosome (142 genes from chromosome I and 42 genes from chromosome II were identified from 19 sequenced Vibrionales genomes and their phylogenetic comparison suggests consistent phylogenies for each chromosome. Additionally, study of the gene organization and phylogeny of the respective origins of replication confirmed the shared history. Conclusions Thus, while elements within the chromosomes may have experienced significant genetic mobility, the backbones share a common history. This allows conclusions based on multilocus sequence analysis (MLSA for one chromosome to be applied equally to both chromosomes.

  20. Autism Spectrum Disorders Associated with Chromosomal Abnormalities

    Lo-Castro, Adriana; Benvenuto, Arianna; Galasso, Cinzia; Porfirio, Cristina; Curatolo, Paolo

    2010-01-01

    Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of genetic and phenotypic heterogeneity. So far, several "monogenic" forms of autism have been…

  1. Results of prenatal screening for fetal chromosome abnormality during the first trimester pregnancy in Guangzhou%广州市早孕期产前筛查胎儿染色体异常的结果分析

    许遵鹏; 李蓓; 廖灿; 孙茜; 白雪; 李东至

    2014-01-01

    Objective To evaluate the efficiency of first trimester prenatal screening for fetal chromosome abnormality using maternal serum marker test and/or plus nuchal translucency (NT) in Guangzhou region.Methods The results of prenatal screening were retrospectively analyzed among 43 703 women with singleton pregnancies from January 2007 to September 2012.A total of 43 703 pregnancies between 9 and 13+6 weeks of pregnancy were collected and analyzed for maternal serum pregnancy-associated plasma protein A (PAPPA),free β-human chorionic gonadotropin (free β-hCG) with or without crownrump length (CRL).Nuchal translucency was measured by ultrasonographic scan between 11 and 13+6 weeks of pregnancy.Gestational age was estimated by ultrasonographic scan.The risk values of Down syndrome (DS) and trisomy 18 were calculated using the software Lifcycle.Comparing the difference between the combined screening (PAPPA,free β-hCG and NT) and serum marker screening (PAPPA and free β-hCG).Results Among the 43 703 pregnant women,screening showed that 1385 (3.17%) were Down syndrome positive and 55 (0.13%) were trisomy 18 positive.The final outcomes of pregnancy showed that 142 cases presented chromosomal abnormalities,of which 54 cases suffered from Down syndrome,13 had trisomy 18,and 75 had other chromosome abnormalities.The total detection rate of Down syndrome and trisomy 18 were 83.33% and 76.92%,respectively.The positive rate is lower,and the detection rate is higher in combined screening group than serum marker screening group.The median PAPPA MoM was lower and the median free β-hCG MoM and NT measured value was higher in Down syndrome pregnancies than control group.The median PAPPA and free β-hCG MoM were lower and the median NT measured value was higher in trisomy 18 pregnancies than control group.Conclusion The first trimester prenatal screening can effectively detect Down syndrome and trisomy 18 pregnancy.The combined screening method is superior to the serum

  2. Chromosomal mosaicism goes global

    Yurov Yuri B

    2008-11-01

    Full Text Available Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy. It has long been suggested that this phenomenon poorly contributes both to intercellular (interindividual diversity and to human disease. However, our views have recently become to change due to a series of communications demonstrated a higher incidence of chromosomal mosaicism in diseased individuals (major psychiatric disorders and autoimmune diseases as well as depicted chromosomal mosaicism contribution to genetic diversity, the central nervous system development, and aging. The later has been produced by significant achievements in the field of molecular cytogenetics. Recently, Molecular Cytogenetics has published an article by Maj Hulten and colleagues that has provided evidences for chromosomal mosaicism to underlie formation of germline aneuploidy in human female gametes using trisomy 21 (Down syndrome as a model. Since meiotic aneuploidy is suggested to be the leading genetic cause of human prenatal mortality and postnatal morbidity, these data together with previous findings define chromosomal mosaicism not as a casual finding during cytogenetic analyses but as a more significant biological phenomenon than previously recognized. Finally, the significance of chromosomal mosaicism can be drawn from the fact, that this phenomenon is involved in genetic diversity, normal and abnormal prenatal development, human diseases, aging, and meiotic aneuploidy, the intrinsic cause of which remains, as yet, unknown.

  3. Selective chromosome analysis in couples with two or more miscarriages : case-control study

    Franssen, MTM; Korevaar, JC; Leschot, NJ; Bossuyt, PMM; Knegt, AC; Gerssen-Schoorl, KBJ; Wouters, CH; Hansson, KBM; Hochstenbach, R; Madan, K; van der Veen, F; Goddijn, M

    2005-01-01

    Objective To identify additional factors, such as maternal age or factors related to previous reproductive outcome or family history, and the corresponding probability of carrying a chromosome abnormality in couples with two or more miscarriages. Design Nested case-control study. Setting Six centres

  4. Dynamic organization of chromosomal DNA in Escherichia coli.

    Niki, H; Yamaichi, Y; Hiraga, S

    2000-01-15

    We have revealed the subcellular localization of different DNA segments that are located at approximately 230-kb intervals on the Escherichia coli chromosome using fluorescence in situ hybridization (FISH). The series of chromosome segments is localized within the cell in the same order as the chromosome map. The large chromosome region including oriC shows similar localization patterns, which we call the Ori domain. In addition, the localization pattern of the large segment including dif is characteristic of the replication terminus region. The segment also shows similar localization patterns, which we call the Ter domain. In newborn cells, Ori and Ter domains of the chromosome are differentially localized near opposite cell poles. Subsequently, in the B period, the Ori domain moves toward mid-cell before the initiation of replication, and the Ter domain tends to relocate at mid-cell. An inversion mutant, in which the Ter domain is located close to oriC, shows abnormal subcellular localization of ori and dif segments, resulting in frequent production of anucleate cells. These studies thus suggest that the E. coli chromosome is organized to form a compacted ring structure with the Ori and Ter domains; these domains participate in the cell cycle-dependent localization of the chromosome.

  5. Chromosomes in the genesis and progression of ependymomas

    Rogatto, S R; Casartelli, C; Rainho, C A;

    1993-01-01

    chromosomes in three cases. Structural rearrangements of chromosome 2 were a finding for all cases and involved loss of material at 2q32-34. Other structural chromosome abnormalities detected involved chromosomes 4, 6, 10, 11, 12, and X. We also reviewed data on 22 cases previously reported....

  6. 妊娠中期母血清唐氏综合征三联筛查4 680例与不良妊娠结果分析%Chromosomal abnormalities and adverse pregnancy outcome with maternal serum second trimester triple screening test for fetal Down syndrome in 4 860 Chinese women

    夏燕萍; 朱铭伟; 李笑天; 周和平; 王静; 吕菊香; Nanbert ZHONG

    2006-01-01

    Objective:To investigate the efficiency of maternal serum triple screening for the genetic abnormality in second-trimester and the morbidity of adverse pregnancy outcome in false positive results of the test. Methods: A total of 4 680 pregnant women with singleton pregnancies assigned in Obs & Gyn Hospital, Fudan University, underwent triple screening test (alpha fetoprotein, AFP; human chorionic gonadotropin, HCG and unconjugated estriol, uE3) by fluorescence enzyme immunoassay between 2003 and 2005. The valid MoM (Multiples of Median) value of mid-trimester serum AFP, uE3, and hCG and risk assessments was provided by Beckman Coulter Co. When applied in the prenatal Down syndrome screening service. The study compares the incidence of chromosomal abnormalities with Down syndrome in screen positive women and compares to the MoM value established in the literature. The risks of having a fetus with congenital abnormalities or of developing obstetric complications in the screen positive women with their matched controls.Results:The MoM values for the triple tests of our study are similar to established values of literature. Only 51.01% women with pregnancies agree to receive screening. Amniocentesis utilization rate was 55.12% in the screen-positive pregnancies. The false positive rate was 6.89% and the median of maternal age of the women was 28.13 (range 19 to 49) years old. Chromosomal abnormalities were identified in 21 pregnancies, including 9 cases of trisomy 21.The detection rate was 77.77%. Pregnancies with positive screening results had a significantly higher risk of adverse outcomes than those with negative results (P< 0.05). Whereas there was no difference in the incidences of fetal congenital appearance or skeleton abnormality. Conclusion: Adjusting MoM values of local unaffected populations is limited to increasing the detection rate. Because chromosomal defects have variable exhibitions, amniocentesis utilization is still a choice for screen

  7. Sexual maldevelopment and sex reversal, chromosomal causes.

    Magenis, R Ellen

    2006-01-01

    The SRY gene on the Y chromosome is the testis determining factor (TDF). It is therefore the initial male determining factor. However, phenotypic sex determination includes a cascade of genes located on autosomes as well as sex chromosomes. Aberrations of these genes may cause sexual maldevelopment or sex reversal. Abnormalities may include single gene mutations and gene loss or gain-changes may involve only sex organs or may be part of syndromes. These changes may also arise as chromosome abnormalities involving contiguous genes. Eight cases with chromosomal abnormalities involving different causative mechanisms are described herein. The most common cause is nondisjunction, including loss or gain of sex chromosomes. Less common causes are mispairing and crossing over in meiosis, chromosome breaks with repair, nonhomologous pairing due to low copy repeats and crossing over, and translocation (familial or de novo) with segregation. Cases include: [see: text].

  8. Alterações cromossômicas causadas pela radiação dos monitores de vídeo de computadores Chromosome abnormalities caused by computer video display monitors' radiation

    Marcos Roberto Higino Estécio

    2002-06-01

    Full Text Available OBJETIVO: Em decorrência dos questionamentos sobre o efeito deletério das radiações emitidas pelo campo eletromagnético (CEM dos tipos ELF (extremely low frequency e VLF (very low frequency transmitidas pelos monitores de vídeo dos computadores (CRT, foi avaliada a freqüência de anomalias cromossômicas estruturais e a cinética do ciclo celular em indivíduos expostos por seu trabalho à radiação dos CRT. MÉTODOS: A pesquisa de aberrações cromossômicas foi realizada em 2.000 metáfases de primeira divisão celular obtidas de culturas de 48h de linfócitos de sangue venoso periférico de dez indivíduos expostos ao CRT (grupo E e de dez controles (grupo C. A cinética do ciclo celular foi pesquisada pelos índices mitótico (IM e de proliferação celular (IPC. RESULTADOS: A análise estatística evidenciou freqüências significativamente maiores de metáfases com anomalias cromossômicas (E=5,9%; C=3,7% e anomalias/célula (E=0,066±0,026; C=0,040±0,026 nos indivíduos expostos aos CRTs. As alterações citogenéticas mais comuns foram as quebras cromatídicas, com freqüência de 0,034±0,016 no grupo E e de 0,016±0,015 no grupo C. As freqüências de IM e IPC não apresentaram diferenças significantes entre os grupos avaliados. CONCLUSÕES: Os resultados sugerem um efeito genotóxico do CEM emitido pelos CRTs devido à freqüência mais elevada de quebras cromatídicas, enfatizando a necessidade de haver um número maior de estudos com diferentes técnicas que vise a investigar a ação do CEM sobre o material genético.OBJECTIVE: Concerns were raised about the potential damaging effects of electromagnetic field (EMF radiation emissions of ELF (extremely low frequency and VLF (very low frequency computer video display monitors (VDM, it was assessed the frequency of structural chromosome abnormalities and investigated the cell cycle kinetics in individuals occupationally exposed to VDM radiation. METHODS: Chromosome

  9. Abnormalities of gonadal differentiation.

    Berkovitz, G D; Seeherunvong, T

    1998-04-01

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

  10. [From conventional cytogenetics to microarrays. Fifty years of Philadelphia chromosome].

    Hernández, Jesús M; Granada, Isabel; Solé, Francesc

    2011-07-23

    In 1960 Ph-chromosome was found associated with the presence of chronic myelogenous leukemia. In these 50 years an increasing number of cytogenetic abnormalities have been found associated with hematological malignancies. The presence of these abnormalities is not only important for the diagnosis of the patient, but it also contributes to the prognosis of patients with leukemia or lymphoma. For this reason the WHO classification of hematological disease has included these studies for the correct characterization of leukemias and lymphomas. In addition, the use of FISH and micromatrix methodologies have refined the genetic lesions present in these malignancies. The cytogenetic changes observed also provide further information in relation to the therapy.

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

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

    1979-08-01

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

  12. Chromosome oscillations in mitosis

    Campas, Otger

    2008-03-01

    Successful cell division necessitates a tight regulation of chromosome movement via the activity of molecular motors. Many of the key players at the origin of the forces generating the motion have been identified, but their spatial and temporal organization remains elusive. In animal cells, chromosomes periodically switch between phases of movement towards and away from the pole. This characteristic oscillatory behaviour cannot be explained by the current models of chromosome positioning and congression. We perform a self-contained theoretical analysis in which the motion of mono-oriented chromosomes results from the competition between the activity of the kinetochore and chromokinesin motors on the chromosome arms. Our analysis, consistent with the available experimental data, proposes that the interplay between the aster-like morphology of the spindle and the collective kinetics of molecular motors is at the origin of chromosome oscillations, positioning and congression. It provides a natural explanation for the so-called chromosome directional instability and for the mechanism by which chromosomes sense their position in space. In addition, we estimate the in vivo velocity of chromokinesins at vanishing load and propose new experiments to assess the mechanism at the origin of chromosome movement in cell division.

  13. Function of the sex chromosomes in mammalian fertility.

    Heard, Edith; Turner, James

    2011-10-01

    The sex chromosomes play a highly specialized role in germ cell development in mammals, being enriched in genes expressed in the testis and ovary. Sex chromosome abnormalities (e.g., Klinefelter [XXY] and Turner [XO] syndrome) constitute the largest class of chromosome abnormalities and the commonest genetic cause of infertility in humans. Understanding how sex-gene expression is regulated is therefore critical to our understanding of human reproduction. Here, we describe how the expression of sex-linked genes varies during germ cell development; in females, the inactive X chromosome is reactivated before meiosis, whereas in males the X and Y chromosomes are inactivated at this stage. We discuss the epigenetics of sex chromosome inactivation and how this process has influenced the gene content of the mammalian X and Y chromosomes. We also present working models for how perturbations in sex chromosome inactivation or reactivation result in subfertility in the major classes of sex chromosome abnormalities.

  14. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

    Halit Akbas

    2013-01-01

    Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  15. Leukocyte abnormalities.

    Gabig, T G

    1980-07-01

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

  16. Chromosomes, cancer and radiosensitivity

    Samouhos, E.

    1983-08-01

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available.

  17. Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

    Maria Maurer

    2015-07-01

    Full Text Available Background: Selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (IVF technology. The high rate of embryonic developmental arrest during IVF treatment is one of the limitations in achieving this goal. Chromosomal abnormalities are possibly linked with chromosomal arrest and selection against abnormal fertilization products. The objective of this study was to evaluate the frequency and type of chromosomal abnormalities in preimplantation embryos with developmental arrest. Materials and Methods: This cohort study included blastomeres of embryos with early developmental arrest that were biopsied and analyzed by fluorescence in-situ hybridization (FISH with probes for chromosomes 13, 16, 18, 21 and 22. Forty-five couples undergoing IVF treatment were included, and 119 arrested embryos were biopsied. All probes were obtained from the Kinderwunsch Zentrum, Linz, Austria, between August 2009 and August 2011. Results: Of these embryos, 31.6% were normal for all chromosomes tested, and 68.4% were abnormal. Eleven embryos were uniformly aneuploid, 20 were polyploid, 3 were haploid, 11 displayed mosaicism and 22 embryos exhibited chaotic chromosomal complement. Conclusion: Nearly 70% of arrested embryos exhibit chromosomal errors, making chromosomal abnormalities a major cause of embryonic arrest and may be a further explanation for the high developmental failure rates during culture of the embryos in the IVF setting.

  18. Alternative Splicing of CHEK2 and Codeletion with NF2 Promote Chromosomal Instability in Meningioma

    Hong Wei Yang

    2012-01-01

    Full Text Available Mutations of the NF2 gene on chromosome 22q are thought to initiate tumorigenesis in nearly 50% of meningiomas, and 22q deletion is the earliest and most frequent large-scale chromosomal abnormality observed in these tumors. In aggressive meningiomas, 22q deletions are generally accompanied by the presence of large-scale segmental abnormalities involving other chromosomes, but the reasons for this association are unknown. We find that large-scale chromosomal alterations accumulate during meningioma progression primarily in tumors harboring 22q deletions, suggesting 22q-associated chromosomal instability. Here we show frequent codeletion of the DNA repair and tumor suppressor gene, CHEK2, in combination with NF2 on chromosome 22q in a majority of aggressive meningiomas. In addition, tumor-specific splicing of CHEK2 in meningioma leads to decreased functional Chk2 protein expression. We show that enforced Chk2 knockdown in meningioma cells decreases DNA repair. Furthermore, Chk2 depletion increases centrosome amplification, thereby promoting chromosomal instability. Taken together, these data indicate that alternative splicing and frequent codeletion of CHEK2 and NF2 contribute to the genomic instability and associated development of aggressive biologic behavior in meningiomas.

  19. The analysis of mutant alleles of different strength reveals multiple functions of topoisomerase 2 in regulation of Drosophila chromosome structure.

    Mengoli, Valentina; Bucciarelli, Elisabetta; Lattao, Ramona; Piergentili, Roberto; Gatti, Maurizio; Bonaccorsi, Silvia

    2014-10-01

    Topoisomerase II is a major component of mitotic chromosomes but its role in the assembly and structural maintenance of chromosomes is rather controversial, as different chromosomal phenotypes have been observed in various organisms and in different studies on the same organism. In contrast to vertebrates that harbor two partially redundant Topo II isoforms, Drosophila and yeasts have a single Topo II enzyme. In addition, fly chromosomes, unlike those of yeast, are morphologically comparable to vertebrate chromosomes. Thus, Drosophila is a highly suitable system to address the role of Topo II in the assembly and structural maintenance of chromosomes. Here we show that modulation of Top2 function in living flies by means of mutant alleles of different strength and in vivo RNAi results in multiple cytological phenotypes. In weak Top2 mutants, meiotic chromosomes of males exhibit strong morphological abnormalities and dramatic segregation defects, while mitotic chromosomes of larval brain cells are not affected. In mutants of moderate strength, mitotic chromosome organization is normal, but anaphases display frequent chromatin bridges that result in chromosome breaks and rearrangements involving specific regions of the Y chromosome and 3L heterochromatin. Severe Top2 depletion resulted in many aneuploid and polyploid mitotic metaphases with poorly condensed heterochromatin and broken chromosomes. Finally, in the almost complete absence of Top2, mitosis in larval brains was virtually suppressed and in the rare mitotic figures observed chromosome morphology was disrupted. These results indicate that different residual levels of Top2 in mutant cells can result in different chromosomal phenotypes, and that the effect of a strong Top2 depletion can mask the effects of milder Top2 reductions. Thus, our results suggest that the previously observed discrepancies in the chromosomal phenotypes elicited by Topo II downregulation in vertebrates might depend on slight differences

  20. The analysis of mutant alleles of different strength reveals multiple functions of topoisomerase 2 in regulation of Drosophila chromosome structure.

    Valentina Mengoli

    2014-10-01

    Full Text Available Topoisomerase II is a major component of mitotic chromosomes but its role in the assembly and structural maintenance of chromosomes is rather controversial, as different chromosomal phenotypes have been observed in various organisms and in different studies on the same organism. In contrast to vertebrates that harbor two partially redundant Topo II isoforms, Drosophila and yeasts have a single Topo II enzyme. In addition, fly chromosomes, unlike those of yeast, are morphologically comparable to vertebrate chromosomes. Thus, Drosophila is a highly suitable system to address the role of Topo II in the assembly and structural maintenance of chromosomes. Here we show that modulation of Top2 function in living flies by means of mutant alleles of different strength and in vivo RNAi results in multiple cytological phenotypes. In weak Top2 mutants, meiotic chromosomes of males exhibit strong morphological abnormalities and dramatic segregation defects, while mitotic chromosomes of larval brain cells are not affected. In mutants of moderate strength, mitotic chromosome organization is normal, but anaphases display frequent chromatin bridges that result in chromosome breaks and rearrangements involving specific regions of the Y chromosome and 3L heterochromatin. Severe Top2 depletion resulted in many aneuploid and polyploid mitotic metaphases with poorly condensed heterochromatin and broken chromosomes. Finally, in the almost complete absence of Top2, mitosis in larval brains was virtually suppressed and in the rare mitotic figures observed chromosome morphology was disrupted. These results indicate that different residual levels of Top2 in mutant cells can result in different chromosomal phenotypes, and that the effect of a strong Top2 depletion can mask the effects of milder Top2 reductions. Thus, our results suggest that the previously observed discrepancies in the chromosomal phenotypes elicited by Topo II downregulation in vertebrates might depend on

  1. Dissection of Genetic Mechanism of Abnormal Heading in Hybrid Rice

    ZHANG Hong-jun; QU Li-jun; XIANG Chao; WANG Hui; XIA Jia-fa; LI Ze-fu; GAO Yong-ming; SHI Ying-yao

    2014-01-01

    Abnormal heading in hybrid rice production has caused great economic loss in recent years, but the genetic basis of this phenomenon remains elusive. In this study, we developed four testcross populations using 38 introgression lines (ILs) from Shuhui 527 (SH527)/Fuhui 838 (FH838)//SH527 population as male parents and four male sterile lines (MSLs; namely II-32A, Xieqingzao A, Gang 46A and Jin 23A) as female parents. Progeny testing allowed us to identify 55 abnormal heading combinations in Hefei, but had late heading date in Hangzhou and Guangzhou of China. By one-and two-way analysis of variance, a total of 21 QTLs and 31 pairs of epistatic QTLs associated with photosensitivity were identified in the four populations, respectively. Genotypic analysis showed that the IL parent of most abnormal heading combinations showed some introgressions at markers RM331 and RM3395 on chromosome 8 (strongly associated with the known genes OsHAP3H/DTH8/Ghd8/LHD1) of donor FH838 alleles, and these two markers were also identified as affecting photosensitivity. The observation that the recipient parent (SH527), donor parent (FH838), their testcross combinations with four MSLs, and the IL parents of abnormal heading combinations had normal heading date in Hefei suggested that OsHAP3H/DTH8/Ghd8/LHD1 showed no independent regulation on abnormal heading in the abnormal heading combinations. It is noteworthy that complex epistasis among RM331 or RM3395 with other loci, including dominant × additive, additive × dominant, and dominant × dominant epistases, were identified only in the four testcross populations of the current study, but not in the SH527/FH838//SH527 population, suggesting the cause of abnormal heading in abnormal heading combinations in Hefei and delayed heading in Hangzhou and Guangzhou.

  2. [Hair shaft abnormalities].

    Itin, P H; Düggelin, M

    2002-05-01

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

  3. Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

    Fang Jye-Siung

    2011-02-01

    Full Text Available Abstract Aim Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. Methods Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7. Results The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding. Interpretation This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

  4. Paternal uniparental isodisomy for human chromosome 20 and absence of external ears

    Spinner, N.B.; Rand, E.; McDonald-McGinn, D.M. [Childrens Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    Uniparental disomy can cause disease if the involved chromosomal region contains imprinted genes. Uniparental disomy for portions of human chromosomes 6, 7, 9, 11, 14 and 15 have been associated with abnormal phenotypes. We studied a patient with multiple abnormalities including an absent left ear with a small right ear remnant, microcephaly, congenital heart disease and Hirschprung`s disease. Cytogenetics revealed a 45,XY,-20,-20,+ter rea(20;20)(p13;p13) in 10/10 cells from bone marrow and 20/20 cells from peripheral blood. Analysis of a skin culture revealed a second cell line with trisomy 20 resulting from an apparently normal chromosome 20 in addition to the terminally rearranged chromosome, in 8/100 cells studied. The unusual phenotype of our patient was not consistent with previously reported cases of deletions of 20p or mosaic trisomy 20. We hypothesized that the patient`s phenotype could either result from deletion of both copies of a gene near the p arm terminus of chromosome 20 or from uniparental disomy of chromosome 20. There were no alterations or rearrangements of PTP-alpha (which maps to distal 20p) by Southern or Northern blot analysis. A chromosome 20 sub-telomeric probe was found to be present on the rearranged 20 by FISH suggesting that subtelomeric sequences have not been lost as a consequece of this rearrangement. To determine the parental origin of the 2 chromosome 20`s in the terminal rearrangement, we studied the genotypes of the proband and his parents in lymphoblastoid cell lines at 8 polymorphic loci. Genotypes at D20S115, D20S186, and D20S119 indicated that there was paternal isodisomy. Other loci were uninformative. This is the first example of uniparental disomy for chromosome 20. Further studies are warranted to correlate phenotype with uniparental inheritance of this chromosome.

  5. 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.

  6. Consideration of QRS complex in addition to ST-segment abnormalities in the estimation of the "risk region" during acute anterior or inferior myocardial infarction.

    Vervaat, F E; Bouwmeester, S; van Hellemond, I E G; Wagner, G S; Gorgels, A P M

    2014-01-01

    The myocardial area at risk (MaR) is an important aspect in acute ST-elevation myocardial infarction (STEMI). It represents the myocardium at the onset of the STEMI that is ischemic and could become infarcted if no reperfusion occurs. The MaR, therefore, has clinical value because it gives an indication of the amount of myocardium that could potentially be salvaged by rapid reperfusion therapy. The most validated method for measuring the MaR is (99m)Tc-sestamibi SPECT, but this technique is not easily applied in the clinical setting. Another method that can be used for measuring the MaR is the standard ECG-based scoring system, Aldrich ST score, which is more easily applied. This ECG-based scoring system can be used to estimate the extent of acute ischemia for anterior or inferior left ventricular locations, by considering quantitative changes in the ST-segment. Deviations in the ST-segment baseline that occur following an acute coronary occlusion represent the ischemic changes in the transmurally ischemic myocardium. In most instances however, the ECG is not available at the very first moments of STEMI and as times passes the ischemic myocardium becomes necrotic with regression of the ST-segment deviation along with progressive changes of the QRS complex. Thus over the time course of the acute event, the Aldrich ST score would be expected to progressively underestimate the MaR, as was seen in studies with SPECT as gold standard; anterior STEMI (r=0.21, p=0.32) and inferior STEMI (r=0.17, p=0.36). Another standard ECG-based scoring system is the Selvester QRS score, which can be used to estimate the final infarct size by considering the quantitative changes in the QRS complex. Therefore, additional consideration of the Selvester QRS score in the acute phase could potentially provide the "component" of infarcted myocardium that is missing when the Aldrich ST score alone is used to determine the MaR in the acute phase, as was seen in studies with SPECT as gold

  7. Meiotic abnormalities in infertile males.

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

    2005-01-01

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

  8. Telomere dysfunction and chromosome instability

    Murnane, John P., E-mail: jmurnane@radonc.ucsf.edu [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)

    2012-02-01

    The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

  9. B chromosomes and sex in animals.

    Camacho, J P M; Schmid, M; Cabrero, J

    2011-01-01

    Supernumerary (B) chromosomes are dispensable elements found in many eukaryote genomes in addition to standard (A) chromosomes. In many respects, B chromosomes resemble sex chromosomes, so that a common ancestry for them has frequently been suggested. For instance, B chromosomes in grasshoppers, and other insects, show a pycnotic cycle of condensation-decondensation during meiosis remarkably similar to that of the X chromosome. In some cases, B chromosome size is even very similar to that of the X chromosome. These resemblances have led to suggest the X as the B ancestor in many cases. In addition, sex chromosome origin from B chromosomes has also been suggested. In this article, we review the existing evidence for both evolutionary pathways, as well as sex differences for B frequency at adult and embryo progeny levels, B chromosome effects or B chromosome transmission. In addition, we review cases found in the literature showing sex-ratio distortion associated with B chromosome presence, the most extreme case being the paternal sex ratio (PSR) chromosomes in some Hymenoptera. We finally analyse the possibility of B chromosome regularisation within the host genome and, as a consequence of it, whether B chromosomes can become regular members of the host genome.

  10. Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report.

    Vahidi Mehrjardi, Mohammad Yahya; Dehghan Tezerjani, Masoud; Nori-Shadkam, Mahmoud; Kalantar, Seyed Mehdi; Dehghani, Mohammadreza

    2016-03-01

    The interpretation of supernumerary chromosome is important for genetic counseling and prognosis. Here, we used SNP array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the Neonatal Intensive Care Unit of Shahid Sadoughi Hospital in 2015. Clinical abnormalities identified in the newborn were dysmorphic face, intrauterine growth retardation, atrial septal defect (ASD), the hypoplasia of corpus callosum and septum pellucidum. These clinical abnormalities can be related to this marker, and it may help genetic counselor for predicting abnormality risk in susceptible individuals as well as prenatal diagnosis.

  11. Small supernumerary marker chromosomes and their correlation with specific syndromes

    Jafari-Ghahfarokhi, Hamideh; Moradi-Chaleshtori, Maryam; Liehr, Thomas; Hashemzadeh-Chaleshtori, Morteza; Teimori, Hossein; Ghasemi-Dehkordi, Payam

    2015-01-01

    A small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome. It is an additional chromosome smaller than one chromosome most often lacking a distinct banding pattern and is rarely identifiable by conventional banding cytogenetic analysis. The origin and composition of an sSMC is recognizable by molecular cytogenetic analysis. These sSMCs are seen in different shapes, including the ring, centric minute, and inverted duplication shapes. The effects of sSMCs on the phenotype depend on factors such as size, genetic content, and the level of the mosaicism. The presence of an sSMC causes partial tris- or tetrasomy, and 70% of the sSMC carriers are clinically normal, while 30% are abnormal in some way. In 70% of the cases the sSMC is de novo, in 20% it is inherited from the mother, and in 10% it is inherited from the father. An sSMC can be causative for specific syndromes such as Emanuel, Pallister-Killian, or cat eye syndromes. There may be more specific sSMC-related syndromes, which may be identified by further investigation. These 10 syndromes can be useful for genetic counseling after further study. PMID:26322288

  12. Modeling Chromosomes

    Robertson, Carol

    2016-01-01

    Learning about chromosomes is standard fare in biology classrooms today. However, students may find it difficult to understand the relationships among the "genome", "chromosomes", "genes", a "gene locus", and "alleles". In the simple activity described in this article, which follows the 5E approach…

  13. Should the indications for prenatal chromosome analysis be changed?

    Philip, J; Bang, J; Madsen, Mette

    1977-01-01

    Amniocentesis for chromosome analysis was performed in 1086 pergnant women, 739 of whom had an increased risk of giving birth to a child with chromosome abnormalities. Such abnormalities were found in almost identical proportions among the fetuses with an increased risk (1.2%) and among those...

  14. Centromere-independent accumulation of cohesin at ectopic heterochromatin sites induces chromosome stretching during anaphase.

    Raquel A Oliveira

    2014-10-01

    Full Text Available Pericentric heterochromatin, while often considered as "junk" DNA, plays important functions in chromosome biology. It contributes to sister chromatid cohesion, a process mediated by the cohesin complex that ensures proper genome segregation during nuclear division. Long stretches of heterochromatin are almost exclusively placed at centromere-proximal regions but it remains unclear if there is functional (or mechanistic importance in linking the sites of sister chromatid cohesion to the chromosomal regions that mediate spindle attachment (the centromere. Using engineered chromosomes in Drosophila melanogaster, we demonstrate that cohesin enrichment is dictated by the presence of heterochromatin rather than centromere proximity. This preferential accumulation is caused by an enrichment of the cohesin-loading factor (Nipped-B/NIPBL/Scc2 at dense heterochromatic regions. As a result, chromosome translocations containing ectopic pericentric heterochromatin embedded in euchromatin display additional cohesin-dependent constrictions. These ectopic cohesion sites, placed away from the centromere, disjoin abnormally during anaphase and chromosomes exhibit a significant increase in length during anaphase (termed chromatin stretching. These results provide evidence that long stretches of heterochromatin distant from the centromere, as often found in many cancers, are sufficient to induce abnormal accumulation of cohesin at these sites and thereby compromise the fidelity of chromosome segregation.

  15. The Detection Rate of Fetal Chromosomal Abnormalities in Patients With Different Indications of Amniocentesis%不同羊膜腔穿刺适应证患者的染色体异常核型检出情况分析

    赵晓曦; 谷孝月; 武艾宁; 于荣鑫

    2014-01-01

    Objective To evaluate the detection rate of fetal chromosomal abnormalities in patients with different indications of amniocentesis and their genetic counseling.Methods From January 2009 and December 2013,a total of 520 pregnant women who underwent amniocentesis in the First Affiliate Hospital of Inner Mongolia University were included in the study.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of First Affiliate Hospital of Inner Mongolia Medical University.Informed consent was obtained from each participants.The detection rates of fetal chromosomal abnormalities in patients with different indications of amniocentesis were analyzed.Results Chromosomal abnormalities were observed in 4.42% (23/520 )of the samples.The detection rates of chromosomal abnormalities for each indication were 1.45% (3/206 )in advanced maternal age,3.1 5% (7/222 )in the increasing-risk maternal triple-marker screening test,12.72% (7/55 )in the abnormal ultrasound finding, 0 (0/29)for family history of chromosomal abnormality,80.00% (4/5)for the increasing-risk in the non-invasive prenatal testing, 66.67% (2/3 ) in one of the parents carrying abnormal chromosome. Conclusions The detection rate of fetal chromosomal abnormalities in amniocentesis is low.The result of ultrasound examination and non-invasive prenatal testing were helpful to enhance that rate.%目的:分析不同羊膜腔穿刺适应证患者的染色体异常核型检出率及其遗传咨询方法。方法选择2009年1月至2013年12月于内蒙古医科大学附属医院行羊膜腔穿刺胎儿染色体检查的523例患者中羊水细胞培养成功的520例患者为研究对象。本研究遵循的程序符合本研究遵循的程序符合内蒙古医科大学附属医院人体试验委员会所制定的伦理学标准,得到该委员会批准,并征得受试对象本人的知情同意,与之签署临床研究知情同意书。分析不同羊膜腔穿刺适应证患者的

  16. Chromosome X aneuploidy in Brazilian schizophrenic patients.

    de Moraes, Leopoldo Silva; Khayat, André Salim; de Lima, Patrícia Danielle Lima; Lima, Eleonidas Moura; Pinto, Giovanny Rebouças; Leal, Mariana Ferreira; de Arruda Cardoso Smith, Marília; Burbano, Rommel Rodríguez

    2010-01-01

    The identification of cytogenetic abnormalities in schizophrenic patients may provide clues to the genes involved in this disease. For this reason, a chromosomal analysis of samples from 62 schizophrenics and 70 controls was performed with trypsin-Giemsa banding and fluorescence in situ hybridization of the X chromosome. A clonal pericentric inversion on chromosome 9 was detected in one male patient, and we also discovered mosaicism associated with X chromosome aneuploidy in female patients, primarily detected in schizophrenic and normal female controls over 40 years old. When compared with age-matched female controls, the frequency of X chromosome loss was not significantly different between schizophrenics and controls, except for the 40- to 49-year-old age group. Our findings suggest that the X chromosome loss seen in schizophrenic patients is inherent to the normal cellular aging process. However, our data also suggest that X chromosome gain may be correlated with schizophrenia in this Brazilian population.

  17. 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

  18. 中期孕妇胎儿心脏畸形超声心动图表现与染色体异常的相关性%Correlation between fetal cardiac malformations echocardiography and chromosomal abnormalities in mid-pregnancy

    陈兵勇; 尹晓云; 陈婕; 黄继才; 李景珊

    2015-01-01

    Objective To explore the correlation between fetal cardiac malformations echocardiography and chromosomal abnormalities in mid-pregnancy. Methods A total of 5 000 cases of women in mid-pregnancy in our hospital from March 2012 to December 2014 who received prenatal ultrasound and karyotype examination were in-cluded in the study. And correlation between fetal cardiac malformations echocardiography and chromosomal abnor-malities was analyzed. Results In 60 fetal cardiac malformation cases, there were 16 chromosomal abnormalities cas-es which accounting for 26.67%(16/60), including 1 case of X monomer, 3 cases of trisomy 13, 7 cases of trisomy 18, and 5 cases of trisomy 21. While in 16 fetal congenital heart disease (CHD) cases, all X monomer and trisomy 13 cas-es, 60%of trisomy 21 cases and 85.71%of trisomy 18 cases were found with varying degrees of extracardiac malfor-mations. Conclusion Fetal cardiac malformations are closely related with chromosomal abnormalities. Therefore malformations should be carefully considered if fetal cardiac malformations were found in ultrasound screening, and a chromosome examination would be clinically recommended.%目的:检测中期孕妇胎儿心脏畸形超声心动图与染色体异常变异,探讨其可能存在的关系。方法对本院2012年3月至2014年12月收治的5000例中期孕妇进行产前超声与染色体核型检查,综合比较分析胎儿心脏畸形超声心动图表现和染色体异常的关系。结果60例心脏畸形胎儿确诊病例中伴染色体异常者16例,占26.67%(16/60),其中X单体1例,13-三体3例,18-三体7例,21-三体5例。16例先天性心脏病(CHD)胎儿中,全部的X单体和13-三体、60%的21-三体以及85.71%的18-三体患儿均伴有不同程度的心外器官的畸形。结论胎儿心脏结构畸形与染色体异常关系密切,产前超声筛查发现心脏畸形时应仔细检查胎儿是否合并心外系统畸形,并结合临床筛查指标建议行染色体检查。

  19. 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

  20. Cytological and Morphological Characteristics of Hybrids Between Lophopyrum elongatum 1E Addition Line and Gametocidal Chromosome 2C Addition Line%长穗偃麦草1E附加系与杀配子染色体2C附加系杂交后代的细胞学及形态学分析

    刘春影; 杨蕾; 王丹; 郭长虹

    2012-01-01

    Lophopyrum elongatum is a wild relative of wheat that has excellent traits such as cold resistance, drought resistance and disease resistance. In order to transfer the desirable genes of Th. elongatum into wheat, hybrid, selfing and backcross were done between 'Chinese spring' -Th. elongatum IE disomic addition line and 'Chinese spring' -Ae. cylindrica gametocidal chromosome 2C disomic addition line, the cytological and morphological characteristics of offspring were observed. Chromosome aberrations were observed in the mitosis and meiosis, the seed-setting rate of Fi was lower significantly compared with parents, the spike separation was observed in the hybrids, in addition to the normal spike, we also observed the compactoid. This study showed that, gametocidal chromosome 2C could induce chromosome aberrations and had a certain influence to seed-setting rate and spike. These results provided a good basis for further developing wheat- Th. elongatum IE chromosome translocation and deletion lines.%长穗偃麦草是小麦的野生近缘种属,具有抗寒、抗旱、抗病等优异性状.为了利用长穗偃麦草的优异基因,将“中国春’-长穗偃麦草1E二体附加系与‘中国春’-柱穗山羊草2C二体附加系杂交、自交和回交,观察其后代的细胞学和形态学特性.结果表明,在杂交后代有丝分裂和减数分裂中观察到了染色 体畸变现象;统计F1代自交结实率,发现与亲本相比,这些杂种后代的结实率明显降低;杂种后代的穗型 发生了分离,除正常穗型外还观察到了密穗型,说明杀配子染色体2C可以诱导染色体畸变并对结实率 和穗型均有一定的影响.本研究为进一步创制小麦-长穗偃麦草1E染色体易位系和缺失系奠定了基础.

  1. Understanding Chromosome Disorders and their Implications for Special Educators

    Linda Gilmore

    2014-03-01

    Full Text Available More children are now being diagnosed with chromosome abnormalities. Some chromosome disorder syndromes are relatively well known; while others are so rare that there is only limited evidence about their likely impact on learning and development. For educators, a basic level of knowledge about chromosome abnormalities is important for understanding the literature and communicating with families and professionals. This paper describes chromosomes, and the numerical and structural anomalies that can occur, usually spontaneously during early cell division. Distinctive features of various chromosome syndromes are summarised before a discussion of the rare chromosome disorders that are labelled, not with a syndrome name, but simply by a description of the chromosome number, size and shape. Because of the potential within-group variability that characterises syndromes, and the scarcity of literature about the rare chromosome disorders, expectations for learning and development of individual students need to be based on the range of possible outcomes that may be achievable.

  2. [Dicentric Y chromosome].

    Abdelmoula, N Bouayed; Amouri, A

    2005-01-01

    Dicentric Y chromosomes are the most common Y structural abnormalities and their influence on gonadal and somatic development is extremely variable. Here, we report the third comprehensive review of the literature concerning dicentric Y chromosomes reported since 1994. We find 78 new cases for which molecular studies (PCR or FISH) have been widely applied to investigate SRY (68% of cases), GBY, ZFY, RFS4Y, GCY and different genes at AZF region. For dic(Yq), all cases (n = 20) were mosaic for 45,X and 4 of them were also mosaic for a 46,XY cell line. When breakpoints were available (15/20 cases), they were in Yp11. 50% of cases were phenotypic female and 20% phenotypic male while 20% of cases were reported with gonadal dysgenesis. Gonadal histology was defined in 8 cases but only in one case, gonadal tissu was genetically investigated because of gonadoblastoma. For dic(Yp) (n = 55), mosaicism concerned only 45,X cell line and was found in 50 cases while the remainder five cases were homogeneous. When breakpoints were available, it was at Yq11 in 50 cases and at Yq12 in two cases. 54% of cases were phenotypic female, 26% were phenotypic male and 18% were associated with genitalia ambiguous. SRY was analyzed in 33 cases, sequenced in 9 cases and was muted in only one case. Gonads were histologically explored in 34 cases and genetically investigated in 8 cases. Gonadoblastoma was found in only two cases. Through this review, it seems that phenotype-genotype correlations are still not possible and that homogeneous studies of dic(Y) in more patients using molecular tools for structural characterization of the rearranged Y chromosome and assessment of mosaicism in many organs are necessary to clarify the basis of the phenotypic heterogeneity of dicentric Y chromosomes and then to help phenotypic prediction of such chromosome rearrangement.

  3. Epigenetics and autoimmune diseases: the X chromosome-nucleolus nexus.

    Brooks, Wesley H; Renaudineau, Yves

    2015-01-01

    Autoimmune diseases occur more often in females, suggesting a key role for the X chromosome. X chromosome inactivation, a major epigenetic feature in female cells that provides dosage compensation of X-linked genes to avoid overexpression, presents special vulnerabilities that can contribute to the disease process. Disruption of X inactivation can result in loss of dosage compensation with expression from previously sequestered genes, imbalance of gene products, and altered endogenous material out of normal epigenetic context. In addition, the human X has significant differences compared to other species and these differences can contribute to the frequency and intensity of the autoimmune disease in humans as well as the types of autoantigens encountered. Here a link is demonstrated between autoimmune diseases, such as systemic lupus erythematosus, and the X chromosome by discussing cases in which typically non-autoimmune disorders complicated with X chromosome abnormalities also present lupus-like symptoms. The discussion is then extended to the reported spatial and temporal associations of the inactive X chromosome with the nucleolus. When frequent episodes of cellular stress occur, the inactive X chromosome may be disrupted and inadvertently become involved in the nucleolar stress response. Development of autoantigens, many of which are at least transiently components of the nucleolus, is then described. Polyamines, which aid in nucleoprotein complex assembly in the nucleolus, increase further during cell stress, and appear to have an important role in the autoimmune disease process. Autoantigenic endogenous material can potentially be stabilized by polyamines. This presents a new paradigm for autoimmune diseases: that many are antigen-driven and the autoantigens originate from altered endogenous material due to episodes of cellular stress that disrupt epigenetic control. This suggests that epigenetics and the X chromosome are important aspects of autoimmune

  4. Chromosome analysis of arsenic affected cattle

    S. Shekhar

    2014-10-01

    Full Text Available Aim: The aim was to study the chromosome analysis of arsenic affected cattle. Materials and Methods: 27 female cattle (21 arsenic affected and 6 normal were selected for cytogenetical study. The blood samples were collected, incubated, and cultured using appropriate media and specific methods. The samples were analyzed for chromosome number and morphology, relative length of the chromosome, arm ratio, and centromere index of X chromosome and chromosomal abnormalities in arsenic affected cattle to that of normal ones. Results: The diploid number of metaphase chromosomes in arsenic affected cattle as well as in normal cattle were all 2n=60, 58 being autosomes and 2 being sex chromosomes. From the centromeric position, karyotyping studies revealed that all the 29 pair of autosomes was found to be acrocentric or telocentric, and the sex chromosomes (XX were submetacentric in both normal and arsenic affected cattle. The relative length of all the autosome pairs and sex chrosomosome pair was found to be higher in normal than that of arsenic affected cattle. The mean arm ratio of X-chromosome was higher in normal than that of arsenic affected cattle, but it is reverse in case of centromere index value of X-chromosome. There was no significant difference of arm ratio and centromere index of X-chromosomes between arsenic affected and normal cattle. No chromosomal abnormalities were found in arsenic affected cattle. Conclusion: The chromosome analysis of arsenic affected cattle in West Bengal reported for the first time in this present study which may serve as a guideline for future studies in other species. These reference values will also help in comparison of cytological studies of arsenic affected cattle to that of various toxicants.

  5. Chromosome therapy. Correction of large chromosomal aberrations by inducing ring chromosomes in induced pluripotent stem cells (iPSCs).

    Kim, Taehyun; Bershteyn, Marina; Wynshaw-Boris, Anthony

    2014-01-01

    The fusion of the short (p) and long (q) arms of a chromosome is referred to as a "ring chromosome." Ring chromosome disorders occur in approximately 1 in 50,000-100,000 patients. Ring chromosomes can result in birth defects, mental disabilities, and growth retardation if additional genes are deleted during the formation of the ring. Due to the severity of these large-scale aberrations affecting multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have so far been proposed. Our recent study (Bershteyn et al.) using patient-derived fibroblast lines containing ring chromosomes, found that cellular reprogramming of these fibroblasts into induced pluripotent stem cells (iPSCs) resulted in the cell-autonomous correction of the ring chromosomal aberration via compensatory uniparental disomy (UPD). These observations have important implications for studying the mechanism of chromosomal number control and may lead to the development of effective therapies for other, more common, chromosomal aberrations.

  6. Application of QF-PCR in diagnosis of Trisomy 21 syndrome and sex chromosome abnormalities in ;polyploidy genetic disease%QF-PCR 在21-三体和性染色体多倍体异常遗传病诊断中的应用

    李中文

    2015-01-01

    目的:探讨多重定量荧光PCR(quantitative fluorescent PCR,QF-PCR)技术在21-三体综合征、克氏综合征等染色体多倍体遗传病进行快速的诊断。方法21、X、Y染色体数目异常疑似患者外周静脉血76份。针对21号染色体和X、Y染色体上7个多态性短串联重复序列( STR)位点21S1435、D21S11、D21S1411、AMXY、DXS981、DXS6809、X22应用QF-PCR方法进行多重扩增,使用毛细管电泳法进行产物分析。同时进行染色体核型分析。结果染色体核型分析中62例21-三体综合征,9例克氏综合征,5例正常。 QF-PCR结果与核型分析结果一致。结论 QF-PCR技术可用于21-三体综合征和克氏综合症等染色体多倍体遗传病的快速诊断。%Objective To evaluate multiple fluorescence quantitative PCR ( quantitative fluorescent PCR, QF-PCR ) for rapid diagnosis technique in Trisomy 21 syndrome, Klinefelter syndrome and other chromosome Polyploidy Genetic disease .Methods 21,X,Y chromosome abnormality in patients with suspected peripheral venous blood in 76 copies.On chromosome 21 and X,Y chromosome polymorphism of 7 short tandem repeat (STR) loci21S1435, D21S11, D21S1411, AMXY, DXS981, DXS6809, X22 and the QF-PCR method were used to multiplex amplification , the products were analyzed by capillary electrophoresis .At the same time, karyotype analysis .Results Karyotype analysis of 62 cases of Trisomy 21 syndrome , 9 cases of Klinefelter syndrome, and 5 cases of normal.The results ofkaryotype analysis results were consistent with QF-PCR. Conclusions QF-PCR technology can be used for rapid diagnosis of Trisomy 21 syndrome and Klinefelter syndrome and other chromosome Polyploidy Genetic disease .

  7. The Y Chromosome

    Offner, Susan

    2010-01-01

    The Y chromosome is of great interest to students and can be used to teach about many important biological concepts in addition to sex determination. This paper discusses mutation, recombination, mammalian sex determination, sex determination in general, and the evolution of sex determination in mammals. It includes a student activity that…

  8. Synthetic chromosomes.

    Schindler, Daniel; Waldminghaus, Torsten

    2015-11-01

    What a living organism looks like and how it works and what are its components-all this is encoded on DNA, the genetic blueprint. Consequently, the way to change an organism is to change its genetic information. Since the first pieces of recombinant DNA have been used to transform cells in the 1970s, this approach has been enormously extended. Bigger and bigger parts of the genetic information have been exchanged or added over the years. Now we are at a point where the construction of entire chromosomes becomes a reachable goal and first examples appear. This development leads to fundamental new questions, for example, about what is possible and desirable to build or what construction rules one needs to follow when building synthetic chromosomes. Here we review the recent progress in the field, discuss current challenges and speculate on the appearance of future synthetic chromosomes.

  9. X Chromosome Inactivation and Breast Cancer: Epigenetic Alteration in Tumor Initiation and Progression

    2007-09-01

    types of mammary tumors, but not others. For instance, X chromosomal abnormalities appear to be associated with basal-like human breast cancer (BLC...andDNA damage-repair pathways to ensure genome integrity (Deng, 2006; Venkitaraman, 2002). In addition, BRCA1 plays a role in meiotic XY inactivation...find- ing that meiotic XY silencing proceeds by a mechanism involving silencing of unsynapsed DNA (Turner et al., 2006), which is distinct from X

  10. Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

    Antonarakis, S E; Blouin, J L; Maher, J; Avramopoulos, D; Thomas, G; Talbot, C C

    1993-06-01

    Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We recently studied a 9-year-old female with a de novo Robertsonian translocation t(13;14), short stature, mild developmental delay, scoliosis, hyperextensible joints, hydrocephalus that resolved spontaneously during the first year of life, and hypercholesterolemia. To determine the parental origin of chromosomes 13 and 14 in the proband, we have studied the genotypes of DNA polymorphic markers due to (GT)n repeats in the patient and her parents' blood DNA. The genotypes of markers D14S43, D14S45, D14S49, and D14S54 indicated maternal UPD for chromosome 14. There was isodisomy for proximal markers and heterodisomy for distal markers, suggesting a recombination event on maternal chromosomes 14. In addition, DNA analysis first revealed--and subsequent cytogenetic analysis confirmed--that there was mosaic trisomy 14 in 5% of blood lymphocytes. There was normal (biparental) inheritance for chromosome 13, and there was no evidence of false paternity in genotypes of 11 highly polymorphic markers on human chromosome 21. Two cases of maternal UPD for chromosome 14 have previously been reported, one with a familial rob t(13;14) and the other with a t(14;14). There are several similarities among these patients, and a "maternal UPD chromosome 14 syndrome" is emerging; however, the contribution of the mosaic trisomy 14 to the phenotype cannot be evaluated. The study of de novo Robertsonian translocations of the type reported here should reveal both the extent of UPD in these events and the contribution of particular chromosomes involved in certain phenotypes.

  11. Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13; 14) trisomy 14

    Antonarakis, S.E.; Blouin, J.L.; Maher, J.; Avramopoulos, D.; Thomas, G.; Talbot, C.C. Jr. (Johns Hopkins Univ., Baltimore (United States))

    1993-06-01

    Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. The authors recently studied a 9-year-old female with a de novo Robertsonian translocation t(13;14), short stature, mild developmental delay, scoliosis, hyperextensible joints, hydrocephalus that resolved spontaneously during the first year of life, and hyperchloesterolemia. To determine the parental origin of chromosomes 13 and 14 in the proband, they have studied the genotypes of DNA polymorphic markers due to (GT)n repeats in the patient and her parents' blood DNA. The genotypes of markers D14S43, D14S45, D14S49, and D14S54 indicated maternal UPD for chromosome 14. There was isodisomy for proximal markers and heterodisomy for distal markers, suggesting a recombination event on maternal chromosomes 14. In addition, DNA analysis first revealed -- and subsequent cytogenetic analysis confirmed -- that there was mosaic trisomy 14 in 5% of blood lymphocytes. There was normal (biparental) inheritance for chromosome 13, and there was no evidence of false paternity in genotypes of 11 highly polymorphic markers on human chromosome 21. Two cases of maternal UPD for chromosome 14 have previously been reported, one with a familial rob t(13;14) and the other with a t(14;14). There are several similarities among these patients, and a [open quotes]maternal UPD chromosome 14 syndrome[close quotes] is emerging; however, the contribution of the mosaic trisomy 14 to the phenotype cannot be evaluated. The study of de novo Robertsonian translocations of the type reported here should reveal both the extent of UPD in these events and the contribution of particular chromosomes involved in certain phenotypes. 33 refs., 3 figs., 1 tab.

  12. Uniparental disomy analysis in carriers of balanced chromosome rearrangements

    May, K.M.; Pettay, D.; Muralidharan, K. [Emory Univ. School of Medicine, Atlanta, GA (United States)] [and others

    1994-09-01

    Although most individuals who carry a balanced familial chromosome rearrangement are phenotypically normal, those who are clinically abnormal raise the question of whether or not the rearrangement plays a causative role. One possible mechanism involves meiotic segregation of a normal homolog along with the rearranged chromosome(s) such that a trisomic conception occurs. Subsequent loss by mitotic nondisjunction of the structurally normal chromosome contributed by the non-carrier parent would then result in uniparental disomy (UPD) in a conceptus carrying a balanced rearrangement. UPD for chromosomes 14 and 15 has been demonstrated in several clinically abnormal individuals who carry a familial Robertsonian translocation. We have extended this type of analysis to include other forms of balanced chromosome rearrangements. We report the results of UPD analysis of 14 families who have a phenotypically abnormal child with an apparently balanced rearrangement. The series includes 4 reciprocal translocations, 4 Robertsonian translocations, 2 X;autosome translocations, and 4 inversions. High resolution chromosomes were used to compare breakpoints between parent and offspring to exclude the possibility of further rearrangements. Parental origin of the chromosome(s) involved was determined by DNA polymorphism analysis using PCR or Southern blotting techniques. We found no evidence of UPD in any of the 14 cases. Our data suggest that UPD is not a common explanation for phenotypically abnormal carriers of balanced chromosome rearrangements.

  13. Histone H2AFX Links Meiotic Chromosome Asynapsis to Prophase I Oocyte Loss in Mammals.

    Cloutier, Jeffrey M.; Mahadevaiah, Shantha K.; Elias ElInati; André Nussenzweig; Attila Tóth; James M A Turner

    2015-01-01

    Author Summary Chromosome abnormalities, such as aneuploidies and structural variants (i.e. translocations, inversions), are strikingly common in the human population, causing disorders such as Down syndrome and Turner syndrome. One important consequence of chromosome abnormalities in mammals is errors during meiosis, the specialized cell division that generates sperm and eggs for reproduction. As a result of these meiotic errors, patients with chromosome abnormalities oftentimes suffer from ...

  14. Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case.

    Bispo, Adriana Valéria Sales; Burégio-Frota, Pollyanna; Oliveira dos Santos, Luana; Leal, Gabriela Ferraz; Duarte, Andrea Rezende; Araújo, Jacqueline; Cavalcante da Silva, Vanessa; Muniz, Maria Tereza Cartaxo; Liehr, Thomas; Santos, Neide

    2014-10-01

    Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.

  15. 滋养层细胞活检法分析人废弃胚胎源性囊胚发育与染色体异常%Using Trophectoderm Biopsy to Analyze the Development and Chromosomal Abnormalities of Blastocysts Derived from Day 3 Discarded Embryos

    关小红; 张爱军; 孙贻娟; 陆小微; 谷瑞环; 冯云

    2011-01-01

    -probe to detect the status of chromosome.Results: A total of 99 blastocysts were analyzed during FISH, but 58.6% of them were chromosomal abnormalities.The abnormal rates were higher with increasing maternal age and embryo fragmentations, some embryos with fragmentation above 25% may form blastulas, but the morphology was poor and with higher incidence of complex chromosomal abnormalities (P<0.05).All blastocysts survived after biospied, and 91.7% signals of FISH between ICM and TE were identical.Conclusion: Some human discarded embryos may develop to blastocyst, but the morphology was poorer and chromosomal abnormalities rate was higher.Maternal age and embryo fragmentation, the growth rate and morphology of blastocyst may influence the status of chromosome.Using trophectoderm biopsy can evaluate the chromosome composition of blastocyst.

  16. Elevada incidência de anormalidades cromossômicas numéricas detectadas por FISH multicentromérico em pacientes com mieloma múltiplo High incidence of chromosomal numerical abnormalities by multicentromeric FISH in multiple myeloma patients

    Maria de Lourdes L. F. Chauffaille

    2007-02-01

    Full Text Available Este estudo objetivou detectar as alterações genéticas em pacientes com mieloma múltiplo (MM, usando o método de hibridação in situ por fluorescência em interfases (FISH interfásico. Para detectar as alterações numéricas foram usadas sondas multicentroméricas e para os rearranjos mais freqüentemente observados na doença foram utilizadas as sondas lócus específicas para IGH, P53, ciclina D1 e RB1. Foram estudados 34 pacientes com MM em estágio avançado, ainda que recém-diagnosticados, 97% dos quais apresentaram anormalidades numéricas detectadas por FISH, sendo 75% hiperdiplóides, 18% hipodiplóides e 3% tri/tetraplóides. Em relação às demais anormalidades, a deleção 13q foi encontrada em 30% dos casos e o rearranjo IGH, em 25%. Agrupando os pacientes com hipodiploidia e com deleção 13q14 (grupo desfavorável e comparando-os com os demais (grupo não-desfavorável, houve tendência a pacientes jovens no grupo desfavorável (p = 0,06 e níveis de hemoglobina (Hb significativamente mais baixos (This study aimed to characterize genetic alterations by interphase multicentromeric FISH focusing on chromosomal numerical abnormalities and using some locus specific probes for the most frequent aberrations found in the disease, in a homogeneous cohort of 34 advanced stage, but recently diagnosed MM patients; 97% had numerical chromosomal abnormalities detected by FISH, being 75% hyperdiploid, 18% hypodiploid and 3% tri/tetraploid. Using locus specific probes, we found 13q deletion in 30% and IGH rearrangement in 25% of cases. Grouping hypodiploid patients together with del13q (unfavorable group and comparing them to the remaining cases (non unfavorable group we found a trend towards younger patients presenting more unfavorable abnormalities (p = 0.06 and significant lower hemoglobin level (Hb < 8.5 mg/dl, p = 0.03.

  17. 眼眶及眼附属器黏膜相关B细胞淋巴瘤中BCL10表达和染色体易位的检测%Abnormal BCL10 nuclear expression and chromosomal translocation in ocular adnexal mucosa-associated lymphoid tissue lymphomas

    李百周; 杨文涛; 周晓燕; 范月珍; 陆洪芬; 施达仁

    2008-01-01

    Objective To detect the BCL10 expression and several types of chromosomal translocations [including t (11 ;18)/API2-MALT1 ; t (1 ;14)/IgH- BCL10 and t (14;18)/MALTI-IgH] in ocular adnexal mucosa-associated lymphoid tissue lymphomas (OA-MALT lymphomas). Methods Sixty OA-MALT lymphomas were collected from Cancer Hospital of Fudan University. BCLIO was detected by immunohistochemical studies, and API2-MALT1 fusion gene, BCLIO, MALT1 and IgH chromosomal abnormalities were detected by fluorescent in situ hybridization ( FISH). Fisher's exact test was used to analyze the relation between nuclear BCL10 expression and chromosomal translocation. Results BCL10 expressed in 85.0% (51/60) OA-MALT lymphomas. Among these positive cases, 25 cases (41.7%) were expressed in the cytoplasm, and 26 cases (43.3%) were expressed in the nucleus. FISH results showed that no chromosomal abnormalities related with BCL10 and IgH genes, except 2 cases with API2-MALT1 fusion gene. Under statistic of Fisher exact test, nuclear BCL10 expression and API2-MALT1 fusion gene were two independent factors ( P > 0.05 ). Conclusions BCL10 nuclear expression is common in OAMALT lymphomas and may be used as a potential marker for the diagnosis of MALT lymphomas arising from ocular adnexa. Aberrant chromosomal translocations reported in the other sites MALT lymphomas are rare in OA-MALT lymphomas.%目的 研究眼眶及眼附属器黏膜相关(OA-MALT)淋巴瘤中BCL10蛋白表达及染色体易位情况.方法 收集60例OA-MALT淋巴瘤患者的标本,采用免疫组织化学法检测BCL10蛋白的表达,用荧光素原位杂交(FISH)法分别检测AP12-MALT1融合基因、BCL10、MALT1及IgH基因的异常.采用交叉分组设计,对结果进行Fisher精确检验.结果 OA-MALT淋巴瘤中BCLI0蛋白表达的阳性率为85.0%(51/60),其中胞质阳性率为41.7%(25/60),胞核阳性率为43.3%(26/60).FISH结果显示除2例患者有API2.MALTI融合基因外,其余患者的BCL10基因和IgH基

  18. 荧光原位杂交产前诊断染色体异常的临床应用%Clinical assessment of fluorescence in situ hybridization in prenatal diagnosis of chromosome abnormalities

    赵欣荣; 吴怡; 韩旭; 赵慧佳

    2012-01-01

    目的 探讨荧光原位杂交( FISH)产前诊断染色体数目异常的临床应用价值.方法 对327例产前诊断孕妇的羊水进行FISH检测和染色体核型分析,将二者结果进行对照.结果 FISH检测均获得诊断结果,发现4例异常胎儿.3例为21-三体,1例为18-三体.与核型分析比较,除核型中1例46,XY[42] /47,XY,+8 [12]嵌合体外,其余样本结果二者均一致.结论 FISH技术能够快速准确检测染色体数目异常,有较大临床应用价值.与传统核型分析相结合,可提高产前诊断的准确性和成功率.%Objective: To investigate the clinical efficacy of fluorescence in situ hybridization (FISH) in prenatal diagnosis of chromosomal aneuploidy. Methods: Amniotic fluid samples were take from 327 women of pregnancy. FISH and karyotyping analysis were done in 327 samples and the results were compared. Results: lnterphase FISH experiments succeeded in all cases. The results of FISH were in conformity with those of cytogenetics in 326 cases, eluding 322 normal cases, 3 cases of trisomy 21 and one case of triso-my 18. A case of mosaic 46,XY [42] /47,XY,+8 [12] was considered as uninformative on the basis of FISH reporting criteria. Conclusion: FISH can detect the chromosomal aneuploidy quickly and accurately. It could be used in the prenatal cytogenetic laboratory. And it can improve the accuracy of prenatal diagnosis and the success rate with the combination of traditional karyotyping.

  19. Detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis and procedure-related complications%不同指征介入性产前诊断的异常染色体检出率及其安全性分析

    李洁; 戴晨燕; 杨燕; 胡娅莉; 茹形; 朱海燕; 朱瑞芳; 张颖; 顾燕; 吴星; 杨滢; 段红蕾

    2009-01-01

    目的 探讨不同指征介入性产前诊断(羊膜腔穿刺和脐血管穿刺)的异常染色体检出率以及介入性产前诊断技术的安全性. 方法回顾性分析本中心1264例介入性产前诊断(1082例羊膜腔穿刺和182例脐血管穿刺)的手术指征、不同指征的异常染色体检出率及穿刺相关并发症.结果 1264例介入性产前诊断中,穿刺指征分别为:血清学筛查高风险651例(51.5%)、孕妇高龄(年龄≥35岁)318例(25.2%)、超声胎儿结构异常136例(10.8%)、不良妊娠史88例(6.9%)、血清学筛查一项或两项标志物MoM值异常52例(4.1%)和夫妇一方染色体平衡易位携带19例(1.5%).共检出有临床意义的染色体异常37例,其穿刺指征依次为:超声提示胎儿结构异常20例(20/136,14.7%),血清学筛查高风险12例(12/651,1.8%),至少一项标志物MoM值异常1例(1/52,1.9%),不良妊娠史1例(1/88,1.1%),夫妇一方染色体平衡易位携带3例(3/19,15.8%),孕妇年龄≥35岁者未检出有临床意义的染色体异常(0/318).1264例介入性产前诊断中共有5例自然流产,其中与羊膜腔穿刺相关的胎儿丢失率为0.28%(3/1082),与脐血管穿刺相关的胎儿丢失率为1.09%(2/182),两者相比差异无统计学意义(P=0.154).脐血管穿刺后孕妇心慌、腹痛以及胎心减慢等并发症的发生率明显高于羊膜腔穿刺组(9.89%和0.18%,P=0.001). 结论超声发现胎儿结构异常应常规检查胎儿核型;单纯高龄作为介入性产前诊断的指征值得商榷;介入性产前诊断从安全性角度应首选羊膜腔穿刺术.%Objective To discuss the detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis(amniocentesis and eordocentesis), and the procedure-related complications. Metheds A retrospective analysis was conducted on 1264 women, who underwent invasive prenatal diagnosis (1082 amniocentesis and 182 eordocentesis), and the procedure-related complications

  20. Chromosomal disorders and male infertility

    Gary L Harton; Helen G Tempest

    2012-01-01

    infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family.Despite this,the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.Nevertheless,more and more genetic factors associated with infertility are being identified.This review will focus on our current understanding of the chromosomal basis of male infertility specifically:chromosomal aneuploidy,structural and numerical karyotype abnormalities and Y chromosomal microdeletions.Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans.Aneuploidy is predominantly maternal in origin,but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts.Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm.Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed,as well as the application of preimplantation genetic diagnosis (PGD) in such cases.Clinical recommendations where possible will be made,as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  1. Bacterial chromosome organization and segregation.

    Badrinarayanan, Anjana; Le, Tung B K; Laub, Michael T

    2015-01-01

    If fully stretched out, a typical bacterial chromosome would be nearly 1 mm long, approximately 1,000 times the length of a cell. Not only must cells massively compact their genetic material, but they must also organize their DNA in a manner that is compatible with a range of cellular processes, including DNA replication, DNA repair, homologous recombination, and horizontal gene transfer. Recent work, driven in part by technological advances, has begun to reveal the general principles of chromosome organization in bacteria. Here, drawing on studies of many different organisms, we review the emerging picture of how bacterial chromosomes are structured at multiple length scales, highlighting the functions of various DNA-binding proteins and the impact of physical forces. Additionally, we discuss the spatial dynamics of chromosomes, particularly during their segregation to daughter cells. Although there has been tremendous progress, we also highlight gaps that remain in understanding chromosome organization and segregation.

  2. Chromosome Analysis

    1998-01-01

    Perceptive Scientific Instruments, Inc., provides the foundation for the Powergene line of chromosome analysis and molecular genetic instrumentation. This product employs image processing technology from NASA's Jet Propulsion Laboratory and image enhancement techniques from Johnson Space Center. Originally developed to send pictures back to earth from space probes, digital imaging techniques have been developed and refined for use in a variety of medical applications, including diagnosis of disease.

  3. The evaluation of fetal nasal bone absence at second and third trimester and its relationship with chromosomal abnormalities%中晚孕期胎儿鼻骨缺失及染色体异常的超声诊断分析

    鲁嘉; 孟华; 姜玉新; 戴晴; 徐钟慧; 杨萌; 欧阳云淑; 张一休

    2014-01-01

    Objective To evaluate the ultrasonic characteristics of nasal bone absence at 16-34 weeks of pregnancy referring to fetal chromosomal anomalies. Methods The ultrasonic findings of the 20 fetuses with nasal bone absence at second or third trimester in Peking Union Medical College Hospital were reviewed referring to chromosomal karyotyping and labor induction or birth outcomes. Results The ultrasound features of the 20 fetuses including:(1) There were 17 fetuses showed bilateral nasal bones absence. The sonographic features were absence of hyper echo of nasal bone underneath the skin on either sagittal or transverse section. There were 5 fetuses showed multiple abnormalities:Four fetuses showed cardiac abnormalities (three showed atrioventricular septal defect, one showed ventricular septal defect, one showed ventricular septal defect with abnormal great vessels). One fetus showed duodenal obstruction′double bulbs′. The other minor abnormalities including short femur and humerus, increasing echogenetic bowels, aberrant right subclavian artery, mild unilateral ventriculomegaly, mild renal pelvic ectasia, outreached tongue, abnormal gestures of hands. (2) There were 3 fetuses showed unilateral nasal bone absence. The sonographic features were absence of hyper echo of either nasal bone on transverse section but with hyper echo on sagittal section. Two fetuses showed cardiac abnormalities (one fetus showed atrioventricular septal defect, one showed ventricular septal defect). The other minor abnormalities including short femur and humerus, hyper echogenetic bowels, increasing thickness of nuchal translucency or nuchal fold. Twelve fetuses were induced labor but only one had biopsy showed accordant result with ultrasound. (3) Karyotyping results:there were 9 of trisomy 21, 1 of 4p-and 7 of normal karyotype fetuses showed bilateral nasal bone absence. There were 2 of trisomy 21 and 1 of normal karyotype fetuses showed unilateral nasal bone absence. (4) Birth outcomes

  4. Chromosome-specific families in Vibrio genomes

    Oksana eLukjancenko

    2014-03-01

    Full Text Available We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished chromosomes, we find a core set of 1269 encoded protein families for chromosome 1, and a core of 252 encoded protein families for chromosome 2. Many of these core proteins are also found in the draft genomes (although which chromosome they are located on is unknown. Of the chromosome specific core protein families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different `Molecular Function` GO categories were found for chromosome 1 specific protein families, and these include several broad activities: pyridoxine 5' phosphate synthetase, glucosylceramidase, heme transport, DNA ligase, amino acid binding, and ribosomal components; in contrast, chromosome 2 specific protein families have only 66 Molecular Function GO terms and include many membrane-associated activities, such as ion channels, transmembrane transporters, and electron transport chain proteins. Thus, it appears that whilst there are many 'housekeeping systems' encoded in chromosome 1, there are far fewer core functions found in chromosome 2. However, the presence of many membrane-associated encoded proteins in chromosome 2 is surprising.

  5. Mechanisms of Chromosome Congression during Mitosis

    Maiato, Helder; Gomes, Ana Margarida; Sousa, Filipe; Barisic, Marin

    2017-01-01

    diversity by means of tubulin post-translational modifications. This so-called “tubulin code” might work as a navigation system that selectively guides kinetochore motors with opposite polarities along specific spindle microtubule populations, ultimately leading to the congression of peripheral chromosomes. We propose an integrated model of chromosome congression in mammalian cells that depends essentially on the following parameters: (1) chromosome position relative to the spindle poles after nuclear envelope breakdown; (2) establishment of stable end-on kinetochore-microtubule attachments and bi-orientation; (3) coordination between kinetochore- and arm-associated motors; and (4) spatial signatures associated with post-translational modifications of specific spindle microtubule populations. The physiological consequences of abnormal chromosome congression, as well as the therapeutic potential of inhibiting chromosome congression are also discussed. PMID:28218637

  6. Mechanisms of Chromosome Congression during Mitosis

    Helder Maiato

    2017-02-01

    microtubule diversity by means of tubulin post-translational modifications. This so-called “tubulin code” might work as a navigation system that selectively guides kinetochore motors with opposite polarities along specific spindle microtubule populations, ultimately leading to the congression of peripheral chromosomes. We propose an integrated model of chromosome congression in mammalian cells that depends essentially on the following parameters: (1 chromosome position relative to the spindle poles after nuclear envelope breakdown; (2 establishment of stable end-on kinetochore-microtubule attachments and bi-orientation; (3 coordination between kinetochore- and arm-associated motors; and (4 spatial signatures associated with post-translational modifications of specific spindle microtubule populations. The physiological consequences of abnormal chromosome congression, as well as the therapeutic potential of inhibiting chromosome congression are also discussed.

  7. A genome-wide map of aberrantly expressed chromosomal islands in colorectal cancer

    Castanos-Velez Esmeralda

    2006-09-01

    Full Text Available Abstract Background Cancer development is accompanied by genetic phenomena like deletion and amplification of chromosome parts or alterations of chromatin structure. It is expected that these mechanisms have a strong effect on regional gene expression. Results We investigated genome-wide gene expression in colorectal carcinoma (CRC and normal epithelial tissues from 25 patients using oligonucleotide arrays. This allowed us to identify 81 distinct chromosomal islands with aberrant gene expression. Of these, 38 islands show a gain in expression and 43 a loss of expression. In total, 7.892 genes (25.3% of all human genes are located in aberrantly expressed islands. Many chromosomal regions that are linked to hereditary colorectal cancer show deregulated expression. Also, many known tumor genes localize to chromosomal islands of misregulated expression in CRC. Conclusion An extensive comparison with published CGH data suggests that chromosomal regions known for frequent deletions in colon cancer tend to show reduced expression. In contrast, regions that are often amplified in colorectal tumors exhibit heterogeneous expression patterns: even show a decrease of mRNA expression. Because for several islands of deregulated expression chromosomal aberrations have never been observed, we speculate that additional mechanisms (like abnormal states of regional chromatin also have a substantial impact on the formation of co-expression islands in colorectal carcinoma.

  8. Duplication and loss of chromosome 21 in two children with Down Syndrome and acute leukemia

    Rogan, P.K.; Close, P.; Seip, J.R. [Pennsylvania State Univ. College of Medicine, Hershey, PA (United States)] [and others

    1994-09-01

    Acute leukemia in patients with Trisomy 21 (Down Syndrome; DS) may often result in additional karyotypic changes in the number or structure of chromosome 21. We present two DS patients whose immunoblast karyotypes were associated with changes in chromosome 21 ploidy. Patient L.E. developed acute lymphocytic leukemia concomitant with the loss of a single copy of chromosome 21. Trisomy 21 in this individual was due to maternal meiosis I nondisjunction. A recombination event resulted in reduction of maternal alleles to homozygosity distal to D21S167. Loss of the paternal chromosomes in the leukemia clone produced uniparental maternal disomy with isodisomy over a 25cM interval. This could, in theory, permit the unopposed expression of one or more homozygous recessive maternal tumor-associated genes, thus providing an explanation for leukemogenesis in this patient. Patient E.H. was diagnosed with acute monoblastic leukemia and consistently displayed tetrasomy 21 in the blast cell population. The DS karyotype probably arose from a mitotic error in which the paternal chromosome was duplicated. DNA polymorphism analysis indicated that the additional chromosome in the leukemia clone was of maternal origin. The presence of equal numbers of maternal and paternal chromosomes in the tetraploid blast clone would not appear to be consistent with the expression of a mutant tumor suppressor gene in this patient. Although tetrasomy 21 could be a non-specific karyotypic abnormality unrelated to leukemogenesis, it is possible that monoblastic leukemia may be a consequence of increased expression of one or more genes on this chromosome.

  9. An infertile case of 47,XYY syndrome without autistic spectrum: Cost effective well-define of extra Y chromosome by GTG, C bandings, QF-PCR and FISH analyses

    Özturk Özdemir

    2016-12-01

    Full Text Available The Autism Spectrum Disorders (ASD was frequently reported in autosomal and sex chromosome abnormalities and limited findings pointed out the Y chromosome. In the current case, it was aimed to identify the genetic cause for a man without autism profiles using combined cytogenetic and molecular genetic techniques. Automated karyotype analysis was made after combined methods with GTG, C bandings, QF-PCR and FISH techniquesfor the current case. Additional Y chromosome was identified after conventional GTG and C-banded karyotype analysis. The current case of 47,XYY syndrome was reported due to without autistic profiles such as language and social impairment. The proband’s karyotype was determined as 47,XYY. No other numerical and/or structural chromosomal abnormalities were detected in the karyotype analysis. Cytogenetic methods combined with cost-effective techniques such as C, GTG banding and FISH provide well-define of extra Y chromosome in the presented case of without autistic spectrum. Both Y chromosomes were in the same size and C-banded profiles in the current proband pointed out that both are originated from one chromosome by endoreduplication Y chromosome after zigot formation

  10. Genetic disorders with both hearing loss and cardiovascular abnormalities.

    Belmont, John W; Craigen, William; Martinez, Hugo; Jefferies, John Lynn

    2011-01-01

    There has been a growing appreciation for conditions that affect hearing and which are accompanied by significant cardiovascular disorders. In this chapter we consider several broad classes of conditions including deafness due to abnormal structural development of the inner ear, those with physiological abnormalities in the inner ear sensory apparatus, and conditions with progressive loss of function of sensory cells or middle ear functions. Because of shared developmental controls, inner ear malformations are often associated with congenital heart defects and can be part of complex syndromes that affect other organs and neurodevelopmental outcome. Physiological disorders of the hair cells can lead to hearing loss and can be associated with cardiac arrhythmias, especially long QT syndrome. In addition, cellular energy defects such as mitochondrial disorders can affect maintenance of hair cells and are often associated with cardiomyopathy. Lysosomal storage diseases and other disorders affecting connective tissue can lead to chronic middle ear disease, with conductive hearing loss and also cause cardiac valve disease and/or cardiomyopathy. The genetic basis for these conditions is heterogeneous and includes chromosomal/genomic disorders, de novo dominant mutations, and familial dominant, autosomal-recessive, and mitochondrial (matrilineal) inheritance. Taken together, there are more than 100 individual genes implicated in genetic hearing impairment that are also associated with congenital and/or progressive cardiac abnormalities. These genes encode transcription factors, chromatin remodeling factors, components of signal transduction pathways, ion channels, mitochondrial proteins and assembly factors, extracellular matrix proteins, and enzymes involved in lysosomal functions.

  11. Pattern of Chromosomal Aberrations in Patients from North East Iran

    Saeedeh Ghazaey

    2013-01-01

    Full Text Available Objective: Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques.Materials and Methods: In this retrospective study, the incidences of chromosomal aberrations were evaluated in a six year period from 2005 to 2011 in Pardis Clinical and Genetics Laboratory on patients referred to from Mashhad and other cities in Khorasan province. Karyotyping was performed on 3728 patients suspected of having chromosomal abnormalities.Results: The frequencies of the different types of chromosomal abnormalities were determined, and the relative frequencies were calculated in each group. Among these patients, 83.3% had normal karyotypes with no aberrations. The overall incidences of chromosomal abnormalities were 16.7% including sex and autosomal chromosomal anomalies. Of those, 75.1 % showed autosomal chromosomal aberrations. Down syndrome (DS was the most prevalent autosomal aberration in the patients (77.1%. Pericentric inversion of chromosome 9 was seen in 5% of patients. This inversion was prevalent in patients with recurrent spontaneous abortion (RSA. Sex chromosomal aberrations were observed in 24.9% of abnormal patients of which 61% had Turner’s syndrome and 33.5% had Klinefelter’s syndrome.Conclusion: According to the current study, the pattern of chromosomal aberrations in North East of Iran demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. These findings provide a reason for preparing a local cytogenetic data bank to enhance genetic counseling of families who require this service.

  12. Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.

    Rush, Eric T; Schaefer, G Bradley; Sanger, Warren G; Coccia, Peter F

    2015-01-01

    Sex chromosome aneuploidies range in incidence from rather common to exceedingly rare and have a variable phenotype. We report 2 patients with sex chromosome aneuploidies who developed severe aplastic anemia requiring treatment. The first patient had tetrasomy X (48,XXXX) and presented at 9 years of age, and the second patient had trisomy X (47,XXX) and presented at 5 years of age. Although aplastic anemia has been associated with other chromosomal abnormalities, sex chromosome abnormalities have not been traditionally considered a risk factor for this condition. A review of the literature reveals that at least one other patient with a sex chromosome aneuploidy (45,X) has suffered from aplastic anemia and that other autosomal chromosomal anomalies have been described. Despite the uncommon nature of each condition, it is possible that the apparent association is coincidental. A better understanding of the genetic causes of aplastic anemia remains important.

  13. Cytogenetics in solid tumors: lessons from the Philadelphia Chromosome.

    Sudoyo, Aru W; Hardi, Fransiska

    2011-01-01

    Although presently known as an environmentally-related disease and appears mostly sporadic, cancer is regarded as a genetic disease based on the presence of gene mutation as a consistent factor. The "Philadelphia Chromosome" found consistently among chronic myeloid leukemia (CML) patients was the first significant finding of a chromosomal abnormality specifically related to a particular disease. Starting from this point, cytogenetics as the study of chromosomes has become a valuable tool in the assessment of cancer - as an aid in diagnosis, thus guiding therapy, and as a prognostic marker. As is the nature of the proliferating marrow, chromosomal abnormalities were found mostly in hematologic malignancies, and the findings more pathognomonic. The situation is different in solid tumors, which when visible to the naked eye already will have complex chromosomal changes and thus pose technical difficulties to the cytogeneticist. However, scientists believe that the shift in chromosomal studies from conventional cytogenetics to molecular cytogenetics will provide further information regarding solid tumors.

  14. Not para-, not peri-, but centric inversion of chromosome 12

    Silahtaroglu, A N; Hacihanefioglu, S; Güven, G S;

    1998-01-01

    A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed...

  15. Altered Chromosomal Positioning, Compaction, and Gene Expression with a Lamin A/C Gene Mutation

    Abuisneineh, Fida; Fahrenbach, John P.; Zhang, Yuan; MacLeod, Heather; Dellefave, Lisa; Pytel, Peter; Selig, Sara; Labno, Christine M.; Reddy, Karen; Singh, Harinder; McNally, Elizabeth

    2010-01-01

    Background Lamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause multiple human diseases including cardiac and skeletal myopathies. The nuclear lamina is thought to regulate gene expression by its direct interaction with chromatin. LMNA gene mutations may mediate disease by disrupting normal gene expression. Methods/Findings To investigate the hypothesis that mutant lamin A/C changes the lamina's ability to interact with chromatin, we studied gene misexpression resulting from the cardiomyopathic LMNA E161K mutation and correlated this with changes in chromosome positioning. We identified clusters of misexpressed genes and examined the nuclear positioning of two such genomic clusters, each harboring genes relevant to striated muscle disease including LMO7 and MBNL2. Both gene clusters were found to be more centrally positioned in LMNA-mutant nuclei. Additionally, these loci were less compacted. In LMNA mutant heart and fibroblasts, we found that chromosome 13 had a disproportionately high fraction of misexpressed genes. Using three-dimensional fluorescence in situ hybridization we found that the entire territory of chromosome 13 was displaced towards the center of the nucleus in LMNA mutant fibroblasts. Additional cardiomyopathic LMNA gene mutations were also shown to have abnormal positioning of chromosome 13, although in the opposite direction. Conclusions These data support a model in which LMNA mutations perturb the intranuclear positioning and compaction of chromosomal domains and provide a mechanism by which gene expression may be altered. PMID:21179469

  16. Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.

    Stephanie K Mewborn

    Full Text Available BACKGROUND: Lamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause multiple human diseases including cardiac and skeletal myopathies. The nuclear lamina is thought to regulate gene expression by its direct interaction with chromatin. LMNA gene mutations may mediate disease by disrupting normal gene expression. METHODS/FINDINGS: To investigate the hypothesis that mutant lamin A/C changes the lamina's ability to interact with chromatin, we studied gene misexpression resulting from the cardiomyopathic LMNA E161K mutation and correlated this with changes in chromosome positioning. We identified clusters of misexpressed genes and examined the nuclear positioning of two such genomic clusters, each harboring genes relevant to striated muscle disease including LMO7 and MBNL2. Both gene clusters were found to be more centrally positioned in LMNA-mutant nuclei. Additionally, these loci were less compacted. In LMNA mutant heart and fibroblasts, we found that chromosome 13 had a disproportionately high fraction of misexpressed genes. Using three-dimensional fluorescence in situ hybridization we found that the entire territory of chromosome 13 was displaced towards the center of the nucleus in LMNA mutant fibroblasts. Additional cardiomyopathic LMNA gene mutations were also shown to have abnormal positioning of chromosome 13, although in the opposite direction. CONCLUSIONS: These data support a model in which LMNA mutations perturb the intranuclear positioning and compaction of chromosomal domains and provide a mechanism by which gene expression may be altered.

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

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

    2016-01-01

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

  18. CLL: chromosomal abnormalities (FISH and their relation with clinical stage, CD38 and ZAP-70 Leucemia linfocítica crônica: anormalidades cromossômicas e a sua relação com o estágio clínico CD38 e o ZAP-70

    Marilia C. Nascimento

    2006-03-01

    Full Text Available Chronic lymphocytic leukemia is the most prevalent type of leukemia in the West. It is characterized by an extremely variable clinical course. The aim of the study was to detect the most frequent chromosomal abnormalities in patients with CLL using FISH, and assess them regarding age, gender, clinical stage and CD38 and ZAP-70 expressions. We found 51.7% of the patients with chromosome abnormalities. The most frequent one was del 13q14 in 34.5% of cases. It was associated to other alterations in 17.2%. 17p13 deletions were found in 17.2% and trisomy 12 in 13.8% (in isolation in 6.9% and associated to del 13q14, in 6.9% of the cases. An 11q22 deletion was found in one case associated to a 13q14 deletion. To better evaluate the relationship between chromosome aberrations and other prognostic factors in CLL, two cytogenetics groups were considered: favorable (13q deletion in isolation and no alteration and unfavorable outcomes (trisomy 12, 17p13 deletion, 11q22 deletion and two simultaneous alterations.The unfavorable alterations were more frequently seen among young individuals (A leucemia linfocítica crônica (LLC é o tipo de leucemia mais prevalente no Ocidente e é caracterizada por curso clínico extremamente variável. O objetivo deste estudo foi detectar as anomalias cromossômicas mais freqüentes em pacientes com LLC, empregando a técnica FISH, e correlacioná-las com idade, sexo, estádio clínico, expressão de CD 38 e ZAP-70. Foram encontradas alterações cromossômicas em 51,7% dos pacientes. A mais freqüente foi a del 13q14, observada em 34,5% dos casos e que esteve associada a outras anomalias em 17,2%. Deleção 17p13 foi encontrada em 17,2% e trissomia 12 em 13,8% (isolada em 6,9% e associada à del 13q14 em 6,9%. Deleção 11q22 foi observada em um caso em concomitância à del 13q14. Para melhor avaliar a relação entre alteração cromossômica e outros fatores prognósticos em LLC, dois grupos citogenéticos foram

  19. PARTIAL TRISOMY CHROMOSOME 5 COSEGREGATING WITH SCHIZOPHRENIA

    Bassett, Anne S.; McGillivray, Barbara C.; Jones, Barry D.; Pantzar, J. Tapio

    1988-01-01

    Schizophrenia was associated with a distinct autosomal abnormality in two related mildly dysmorphic individuals. The finding of cosegregation of schizophrenia and a partial trisomy of chromosome 5 in the family suggests a potential location of a gene or genes linked to schizophrenia.

  20. 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 ...

  1. 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

  2. Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis.

    Borovko, Sergey; Shyla, Alena; Korban, Victorya; Borovko, Alexandra

    2015-03-01

    Study of gender markers is a part of routine forensic genetic examination of crime scene and reference samples, paternity testing and personal identification. Amelogenin locus as a gender marker is included in majority of forensic STR kits of different manufacturers. In current study we report 11 cases of amelogenin abnormalities identified in males of Belarusian origin: 9 cases of AMELY dropout and 2 cases of AMELX dropout. Cases were obtained from forensic casework (n=9) and paternity testing (n=2) groups. In 4 out of 9 AMELY-negative cases deletion of AMELY was associated with the loss of DYS458 marker. In addition, we identified 3 males with SRY-positive XX male syndrome. Deletion of the long arm of the Y-chromosome was detected in two XX males. Loss of the major part of the Y-chromosome was identified in the third XX male. The presence of two X-chromosomes in XX males was confirmed with the use of Mentype(®) Argus X-8 PCR Amplification Kit. AMELY null allele observed in 2 out of 9 cases with AMELY dropout can be caused by mutation in the primer-binding site of AMELY allele. Primer-binding site mutations of AMELX can result in AMELX dropout identified in 2 cases with amplification failure of AMELX. Our study represents the first report and molecular genetic investigation of amelogenin abnormalities in the Belarusian population.

  3. Cognitive and medical features of chromosomal aneuploidy.

    Hutaff-Lee, Christa; Cordeiro, Lisa; Tartaglia, Nicole

    2013-01-01

    This chapter describes the physical characteristics, medical complications, and cognitive and psychological profiles that are associated with chromosomal aneuploidy conditions, a group of conditions in which individuals are born with one or more additional chromosome. Overall, chromosomal aneuploidy conditions occur in approximately 1 in 250 children. Information regarding autosomal disorders including trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), and trisomy 18 (Edward syndrome) are presented. Sex chromosome aneuploidy conditions such as Klinefelter syndrome (47,XXY), XYY, trisomy X, and Turner syndrome (45,X), in addition to less frequently occurring tetrasomy and pentasomy conditions are also covered. Treatment recommendations and suggestions for future research directions are discussed.

  4. Analysis of chromosomal alterations induced by asbestos and ceramic fibers.

    Dopp, E; Schiffmann, D

    1998-08-01

    Asbestos and other mineral fibers have long been known as carcinogenic agents. However, the primary mechanisms of fiber-induced carcinogenesis still remain unclear. We have investigated mitotic disturbances caused by amosite, crocidolite, and chrysotile in Syrian hamster embryo (SHE) fibroblasts. We also analyzed micronucleus formation as a result of mitotic disturbances, and carried out a characterization of the induced micronucleus population by kinetochore staining. In addition, the spindle fiber morphology was examined. Supravital UV-microscopy was used to analyze changes in chromatin structure, impaired chromatid separation and blocked cytokinesis. All three fiber types induced micronuclei in SHE cells with a high frequency (up to 200 MN/2000 cells; dose range: 0.1-5.0 microg/cm2) in a dose-dependent manner with a maximum between 48 and 66 h. Kinetochore staining revealed that 48% of fiber-induced micronuclei reacted positively. Furthermore, spindle deformation was observed in cells with disturbed meta- and anaphases while the spindle fiber morphology appeared unchanged. Our results show that asbestos fibers may cause both loss as well as breakage of chromosomes in the absence of direct interaction with spindle fibers. In addition, we analyzed the induction of micronuclei, hyperdiploidy and chromosome breakage in human amniotic fluid cells (AFC) in vitro by amosite, chrysotile and crocidolite asbestos and ceramic fibers. The response of human (AFC) and rodent (SHE) cells to fiber treatment was compared using the micronucleus assay. AFC were much less susceptible than SHE cells to the induction of micronuclei by mineral fibers. The application of fluorescence in situ hybridization (FISH) with tandem DNA probes yielded more detailed informations about specific structural chromosome aberrations in the 1(cen-q12) and 9(cen-q12) regions and about abnormal numbers of chromosomes in interphase AFC. Using this FISH approach we found a statistically significant

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

    Liang, Guolu; Chen, Hong

    2015-01-01

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

  6. Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.

    Temtamy, S A; Ismail, S I; Meguid, N A

    2000-01-01

    Lenz microphthalmia syndrome is an extremely rare inherited disorder, characterized by unilateral or bilateral microphthalmia. In rare cases affected patients exhibit complete absence of eye or blepharoptosis resulting in visual impairment. Additional physical abnormalities are often associated with this disorder, orofacial, digital, skeletal and urogenital abnormalities. Here we present three cases of Lenz microphthalmia with additional manifestations: two brothers of first cousin mating, the elder one has bilateral congenital cataract which is a rare ophthalmological finding in this syndrome and a third case who presented to us because of ambiguous genitalia. She was 12 years old, and reared as a female. Chromosomal analysis showed 46,XY karyotype, and hormonal studies indicated 5-alpha reductase deficiency. This is the first report of the association of 5-alpha reductase deficiency with Lenz microphthalmia syndrome.

  7. Chromosome numbers and meiotic analysis in the pre-breeding of Brachiaria decumbens (Poaceae)

    Gléia Cristina Laverde Ricci; Alice Maria De Souza-Kaneshima; Mariana Ferrari Felismino; Andrea Beatriz Mendes-Bonato; Maria Suely Pagliarini; Cacilda Borges Do Valle

    2011-08-01

    A total of 44 accessions of Brachiaria decumbens were analysed for chromosome count and meiotic behaviour in order to identify potential progenitors for crosses. Among them, 15 accessions presented $2n = 18$; 27 accessions, $2n = 36$; and 2 accessions, $2n = 45$ chromosomes. Among the diploid accessions, the rate of meiotic abnormalities was low, ranging from 0.82% to 7.93%. In the 27 tetraploid accessions, the rate of meiotic abnormalities ranged from 18.41% to 65.83%. The most common meiotic abnormalities were related to irregular chromosome segregation, but chromosome stickiness and abnormal cytokinesis were observed in low frequency. All abnormalities can compromise pollen viability by generating unbalanced gametes. Based on the chromosome number and meiotic stability, the present study indicates the apomictic tetraploid accessions that can act as male genitor to produce interspecific hybrids with B. ruziziensis or intraspecific hybrids with recently artificially tetraploidized accessions.

  8. Chromosome numbers and meiotic analysis in the pre-breeding of Brachiaria decumbens (Poaceae).

    Ricci, Gléia Cristina Laverde; De Souza-Kaneshima, Alice Maria; Felismino, Mariana Ferrari; Mendes-Bonato, Andrea Beatriz; Pagliarini, Maria Suely; Do Valle, Cacilda Borges

    2011-08-01

    A total of 44 accessions of Brachiaria decumbens were analysed for chromosome count and meiotic behaviour in order to identify potential progenitors for crosses. Among them, 15 accessions presented 2n = 18; 27 accessions, 2n = 36; and 2 accessions, 2n = 45 chromosomes. Among the diploid accessions, the rate of meiotic abnormalities was low, ranging from 0.82% to 7.93%. In the 27 tetraploid accessions, the rate of meiotic abnormalities ranged from 18.41% to 65.83%. The most common meiotic abnormalities were related to irregular chromosome segregation, but chromosome stickiness and abnormal cytokinesis were observed in low frequency. All abnormalities can compromise pollen viability by generating unbalanced gametes. Based on the chromosome number and meiotic stability, the present study indicates the apomictic tetraploid accessions that can act as male genitor to produce interspecific hybrids with B. ruziziensis or intraspecific hybrids with recently artificially tetraploidized accessions.

  9. Why is chromosome segregation error in oocytes increased with maternal aging?

    Wang, Zhen-Bo; Schatten, Heide; Sun, Qing-Yuan

    2011-10-01

    It is well documented that female fertility is decreased with advanced maternal age due to chromosome abnormality in oocytes. Increased chromosome missegregation is mainly caused by centromeric cohesion reduction. Other factors such as weakened homologous recombination, improper spindle organization, spindle assembly checkpoint (SAC) malfunction, chromatin epigenetic changes, and extra-oocyte factors may also cause chromosome errors.

  10. Deciphering evolutionary strata on plant sex chromosomes and fungal mating-type chromosomes through compositional segmentation.

    Pandey, Ravi S; Azad, Rajeev K

    2016-03-01

    Sex chromosomes have evolved from a pair of homologous autosomes which differentiated into sex determination systems, such as XY or ZW system, as a consequence of successive recombination suppression between the gametologous chromosomes. Identifying the regions of recombination suppression, namely, the "evolutionary strata", is central to understanding the history and dynamics of sex chromosome evolution. Evolution of sex chromosomes as a consequence of serial recombination suppressions is well-studied for mammals and birds, but not for plants, although 48 dioecious plants have already been reported. Only two plants Silene latifolia and papaya have been studied until now for the presence of evolutionary strata on their X chromosomes, made possible by the sequencing of sex-linked genes on both the X and Y chromosomes, which is a requirement of all current methods that determine stratum structure based on the comparison of gametologous sex chromosomes. To circumvent this limitation and detect strata even if only the sequence of sex chromosome in the homogametic sex (i.e. X or Z chromosome) is available, we have developed an integrated segmentation and clustering method. In application to gene sequences on the papaya X chromosome and protein-coding sequences on the S. latifolia X chromosome, our method could decipher all known evolutionary strata, as reported by previous studies. Our method, after validating on known strata on the papaya and S. latifolia X chromosome, was applied to the chromosome 19 of Populus trichocarpa, an incipient sex chromosome, deciphering two, yet unknown, evolutionary strata. In addition, we applied this approach to the recently sequenced sex chromosome V of the brown alga Ectocarpus sp. that has a haploid sex determination system (UV system) recovering the sex determining and pseudoautosomal regions, and then to the mating-type chromosomes of an anther-smut fungus Microbotryum lychnidis-dioicae predicting five strata in the non

  11. Heteromorphic sex chromosomes: navigating meiosis without a homologous partner.

    Checchi, Paula M; Engebrecht, Joanne

    2011-09-01

    Accurate chromosome segregation during meiosis relies on homology between the maternal and paternal chromosomes. Yet by definition, sex chromosomes of the heterogametic sex lack a homologous partner. Recent studies in a number of systems have shed light on the unique meiotic behavior of heteromorphic sex chromosomes, and highlight both the commonalities and differences in divergent species. During meiotic prophase, the homology-dependent processes of pairing, synapsis, and recombination have been modified in many different ways to ensure segregation of heteromorphic sex chromosomes at the first meiotic division. Additionally, an almost universal feature of heteromorphic sex chromosomes during meiosis is transcriptional silencing, or meiotic sex chromosome inactivation, an essential process proposed to prevent expression of genes deleterious to meiosis in the heterogametic sex as well as to shield unpaired sex chromosomes from recognition by meiotic checkpoints. Comparative analyses of the meiotic behavior of sex chromosomes in nematodes, mammals, and birds reveal important conserved features as well as provide insight into sex chromosome evolution.

  12. Assessment of aneuploidy in human oocytes and preimplantation embryos by chromosome painting

    Rougier, N.; Viegas-Pequignot, E.; Plachot, M. [Hospital Necker, Paris (France)] [and others

    1994-09-01

    The poor quality of chromosome preparations often observed after fixation of oocytes and embryos did not usually allow accurate identification of chromosomes involved in non-disjunctions. We, therefore, used chromosome painting to determine the incidence of abnormalities for chromosomes 1 and 7. A total of 50 oocytes inseminated for IVF and showing no signs of fertilization as well as 37 diploid embryos donated for research were fixed according to the Dyban`s technique. Fluorescence in situ hybridization was carried out using whole chromosome painting DNA probes specific for human chromosome 1 and 7. The incidence of aneuploidy was 28%, 10% and 60% for metaphase II, polar body and sperm chromosomes, respectively. The high incidence of aneuploidy observed in sperm prematurely condensed sperm chromosomes is due to the fact that usually far less than 23 sperm chromatids are observed, maybe as a consequence of incomplete chromosome condensation. Thirty seven embryos were analyzed with the same probes. 48% of early embryos were either monosomic 1 or 7 or mosaics comprising blastomeres with 1, 2 or 3 signals. Thus, 8 among the 11 abnormal embryos had hypodiploid cells (25 to 37 chromosomes) indicating either an artefactual loss of chromosomes or a complex anomaly of nuclear division (maltinucleated blastomeres, abnormal migration of chromosomes at anaphase). We therefore calculated a {open_quotes}corrected{close_quotes} incidence of aneuploidy for chromosomes 1 or 7 in early embryos: 18%. 86% of the blastocysts showed mosaicism 2n/3 or 4n as a consequence of the formation of the syncitiotrophoblast. To conclude, chromosome painting is an efficient method to accurately identify chromosomes involved in aneuploidy. This technique should allow us to evaluate the incidence of non-disjunction for all chromosome pairs. Our results confirm the high incidence of chromosome abnormalities occurring as a consequence of meiotic or mitotic non-disjunctions in human oocytes and embryos.

  13. Tumor-specific chromosome mis-segregation controls cancer plasticity by maintaining tumor heterogeneity.

    Yuanjie Hu

    Full Text Available Aneuploidy with chromosome instability is a cancer hallmark. We studied chromosome 7 (Chr7 copy number variation (CNV in gliomas and in primary cultures derived from them. We found tumor heterogeneity with cells having Chr7-CNV commonly occurs in gliomas, with a higher percentage of cells in high-grade gliomas carrying more than 2 copies of Chr7, as compared to low-grade gliomas. Interestingly, all Chr7-aneuploid cell types in the parental culture of established glioma cell lines reappeared in single-cell-derived subcultures. We then characterized the biology of three syngeneic glioma cultures dominated by different Chr7-aneuploid cell types. We found phenotypic divergence for cells following Chr7 mis-segregation, which benefited overall tumor growth in vitro and in vivo. Mathematical modeling suggested the involvement of chromosome instability and interactions among cell subpopulations in restoring the optimal equilibrium of tumor cell types. Both our experimental data and mathematical modeling demonstrated that the complexity of tumor heterogeneity could be enhanced by the existence of chromosomes with structural abnormality, in addition to their mis-segregations. Overall, our findings show, for the first time, the involvement of chromosome instability in maintaining tumor heterogeneity, which underlies the enhanced growth, persistence and treatment resistance of cancers.

  14. Mathematical Modeling of Carcinogenesis Based on Chromosome Aberration Data

    Xiao-bo Li

    2009-01-01

    Objective: The progression of human cancer is characterized by the accumulation of genetic instability. An increasing number of experimental genetic molecular techniques have been used to detect chromosome aberrations. Previous studies on chromosome abnormalities often focused on identifying the frequent loci of chromosome alterations, but rarely addressed the issue of interrelationship of chromosomal abnormalities. In the last few years, several mathematical models have been employed to construct models of carcinogenesis, in an attempt to identify the time order and cause-and-effect relationship of chromosome aberrations. The principles and applications of these models are reviewed and compared in this paper. Mathematical modeling of carcinogenesis can contribute to our understanding of the molecular genetics of tumor development, and identification of cancer related genes, thus leading to improved clinical practice of cancer.

  15. Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib).

    Bastepe, Murat; Altug-Teber, Ozge; Agarwal, Chhavi; Oberfield, Sharon E; Bonin, Michael; Jüppner, Harald

    2011-03-01

    Pseudohypoparathyoridism type Ib (PHP-Ib) typically defines the presence of end-organ resistance to parathyroid hormone in the absence of Albright's hereditary osteodystrophy. Patients affected by this disorder present with imprinting defects in the complex GNAS locus. Microdeletions within STX16 or GNAS have been identified in familial cases with PHP-Ib, but the molecular cause of the GNAS imprinting defects in sporadic PHP-Ib cases remains poorly defined. We now report a case with sporadic PHP-Ib for whom a SNPlex analysis revealed loss of the maternal GNAS allele. Further analysis of the entire genome with a 100K SNP chip identified a paternal uniparental isodisomy affecting the entire chromosome 20 without evidence for another chromosomal abnormality. Our findings explain the observed GNAS methylation changes and the patient's hormone resistance, and furthermore suggest that chromosome 20 harbors, besides GNAS, no additional imprinted region that contributes to the clinical and laboratory phenotype.

  16. Chromosomal Abnormalities and Putative Susceptibility Genes in Autism Spectrum Disorders

    Nielsen, Mette Gilling

    Autism spectrum disorders (ASDs) is a heterogeneous group of neurodevelopmental disorders with a significant genetic component as shown by family and twin studies. However, only a few genes have repeatedly been shown to be involved in the development of ASDs. The aim of this study has been...

  17. MMPI Profiles of Males with Abnormal Sex Chromosome Complements

    Rosen, M.; And Others

    1971-01-01

    Nine males with Klinefelter's syndrome (XXY) and seven XYY males, located primarily in prisons and psychiatric hospitals, were administered the Minnesota Multiphasic Personality Inventory. (Author/KW)

  18. Intracytoplasmic sperm injection (ICSI) and chromosomally abnormal spermatozoa

    P.A. in 't Veld; F.J.M. Broekmans (Frank); H.F. de France; P.L. Pearson; M.H. Pieters; R.J. van Kooij

    1997-01-01

    textabstractAn infertile couple was referred for intracytoplasmic sperm injection (ICSI) because of primary infertility and oligoasthenoteratozoospermia (OAT) in the male. It was observed that although the sperm cells presented with an unusual head size and multiple tai

  19. [Chromosomal abnormalities in patients from Obstetrics and Gynaecology hospital].

    Hernández-Herrera, Ricardo Jorge; Rojas-Patlán, Luz; Garza-Pérez, Rosa María; Dávila-Rodríguez, Martha; Cortés-Gutiérrez, Elva Irene; García-Rodríguez, Emerson Odón; Hernández-Hernández, Roberto Raúl

    2014-01-01

    INTRODUCCIÓN: las anormalidades cromosómicas se presentan en 2 a 4 % de los recién nacidos y causan 20 % de las muertes en el primer año de vida. Su prevalencia es de uno por cada 500 a 1000 recién nacidos vivos. Pueden ser numéricas o estructurales y afectar a los cromosomas autosómicos o sexuales. Se presentan en 1 a 3 % de la población general y en 6 a 7 % de los individuos con anomalías congénitas. MÉTODOS: estudio descriptivo en el que se incluyeron todos los resultados citogenéticos de cariotipos tomados de sangre periférica de adultos y neonatos. Se evaluó la prevalencia de polimorfismos y alteraciones cromosómicas en derechohabientes del Hospital de Ginecoobstetricia 23 del Instituto Mexicano del Seguro Social, en Monterrey, Nuevo León.

  20. Chromosome aberrations induced by zebularine in triticale.

    Ma, Xuhui; Wang, Qing; Wang, Yanzhi; Ma, Jieyun; Wu, Nan; Ni, Shuang; Luo, Tengxiao; Zhuang, Lifang; Chu, Chenggen; Cho, Seong-Woo; Tsujimoto, Hisashi; Qi, Zengjun

    2016-07-01

    Chromosome engineering is an important approach for generating wheat germplasm. Efficient development of chromosome aberrations will facilitate the introgression and application of alien genes in wheat. In this study, zebularine, a DNA methylation transferase inhibitor, was successfully used to induce chromosome aberrations in the octoploid triticale cultivar Jinghui#1. Dry seeds were soaked in zebularine solutions (250, 500, and 750 μmol/L) for 24 h, and the 500 μmol/L treatment was tested in three additional treatment times, i.e., 12, 36, and 48 h. All treatments induced aberrations involving wheat and rye chromosomes. Of the 920 cells observed in 67 M1 plants, 340 (37.0%) carried 817 aberrations with an average of 0.89 aberrations per cell (range: 0-12). The aberrations included probable deletions, telosomes and acentric fragments (49.0%), large segmental translocations (28.9%), small segmental translocations (17.1%), intercalary translocations (2.6%), long chromosomes that could carry more than one centromere (2.0%), and ring chromosomes (0.5%). Of 510 M2 plants analyzed, 110 (21.6%) were found to carry stable aberrations. Such aberrations included 79 with varied rye chromosome numbers, 7 with wheat and rye chromosome translocations, 15 with possible rye telosomes/deletions, and 9 with complex aberrations involving variation in rye chromosome number and wheat-rye translocations. These indicated that aberrations induced by zebularine can be steadily transmitted, suggesting that zebularine is a new efficient agent for chromosome manipulation.

  1. Y chromosome microdeletions in Turkish infertile men

    Zamani Ayse

    2006-01-01

    Full Text Available AIMS: To detect the frequency and types of both chromosomal abnormalities and Y chromosome microdeletions in infertile men attending to our university intracytoplasmic sperm injection ICSI/IVF centre and fertile control subjects in our patient population. SETTINGS AND DESIGN: A total of 50 infertile men who were referred to IVF center of Meram medical faculty were selected for the molecular azospermia factor (AZF screening program. MATERIALS AND METHODS: Karyotype analysis and polymerase chain reaction amplification using 15 Y-specific sequence-tagged sites of AZF region were done. RESULTS: The total prevalence of chromosomal abnormalities was found to be 10% (5/50, including 4 patients with numerical and 1 patient with structural abnormalities. Overall, 4 of the 50 patients tested (8% exhibited deletions of the Y chromosome, 3 of them being azospermic and 1 of them oligospermic men. The frequency of the microdeletions in subgroups with azospermia and oligozoospermia was found to be 10.7% (3/29 and 4.7% (1/21 respectively. Microdeletions of AZFb and AZFc regions were detected in all of the 4 patients. Neither AZFa nor AZFd microdeletions were indicated. CONCLUSIONS: Our findings suggest that one must know whether there is a genetic cause for male infertility before patients can be subjected to ISCI or testicular sperm extraction (TESE/ISCI treatment.

  2. Application of whole-genome and high-resolution chromosome microarray analysis for the investigation of fetuses with ultrasound abnormalities%全基因组高分辨率染色体微阵列分析在超声结构异常胎儿中的应用

    张燕; 符芳; 李茹; 谢闺娥; 韩瑾; 潘敏; 甄理; 杨昕; 李东至

    2015-01-01

    Objective To assess the value of whole-genome high-resolution chromosome microarray analysis (CMA) for the investigation of fetuses with ultrasound abnormalities.Methods Whole genome high-resolution CytoScanHD array from Affymetrix was employed to investigate 651 fetuses with structural abnormalities detected by ultrasound,for whom standard G-banded chromosome analysis has revealed a normal karyotype.The fetuses were divided into a single malformation group (n=264) and a multiple malformations group (n=387).In total there were 130 chorionic villus samples,192 amniotic fluid samples and 329 cord blood samples.Extraction of fetal DNA and CMA experiment have followed the standard guidelines from the manufacturers.All copy number variations (CNVs) detected by CMA were confirmed by fluorescence in situ hybridization (FISH) or real-time polymerase chain reaction (RT-PCR).Results CMA analysis has detected genomic CNVs in 475 (73%) cases.Clinically significant CNVs were found in 11.5% (75/651) of fetuses,including two uniparental disomies (UPD) and two cryptic mosaicisms.Variations of unknown significance (VOUS) was found in 2.0% (13/651) of tested fetuses.Conclusion Above results have suggested that whole-genome and high-resolution CMA is valuable for the analysis of fetuses with structural abnormalities detected by ultrasound,which can increase the detection rate by approximately 11 %.CMA using single nucleotide polymorphism (SNP) array has the ability to detect UPD and low-level mosaicisms.Sufficient communication between technicians and genetic counselors,parental testing and comparison the results with in-house and relevant online databases can significantly reduce the rate of VOUS.%目的 探讨全基因组高分辨率染色体微阵列分析(chromosome microarray analysis,CMA)技术在先天性结构异常胎儿中的应用价值.方法 应用美国Affymetrix公司全基因组高分辨率CytoScanHD芯片对651例孕期超声检查提示先天性结构发育

  3. Inheritance of a ring 14 chromosome.

    Riley, S B; Buckton, K E; Ratcliffe, S G; Syme, J

    1981-06-01

    A family is described in which the mother, her two live offspring, and a therapeutically aborted fetus each had a ring 14 chromosomes. The two children were mentally retarded and the mother's intelligence was at the lower end of the normal range. In addition, the mother had two spontaneous abortions, one of which was shown to be chromosomally normal.

  4. Inheritance of a ring 14 chromosome.

    Riley, S B; Buckton, K E; Ratcliffe, S G; Syme, J.

    1981-01-01

    A family is described in which the mother, her two live offspring, and a therapeutically aborted fetus each had a ring 14 chromosomes. The two children were mentally retarded and the mother's intelligence was at the lower end of the normal range. In addition, the mother had two spontaneous abortions, one of which was shown to be chromosomally normal.

  5. The Consequences of Chromosome Segregation Errors in Mitosis and Meiosis

    Tamara Potapova

    2017-02-01

    Full Text Available Mistakes during cell division frequently generate changes in chromosome content, producing aneuploid or polyploid progeny cells. Polyploid cells may then undergo abnormal division to generate aneuploid cells. Chromosome segregation errors may also involve fragments of whole chromosomes. A major consequence of segregation defects is change in the relative dosage of products from genes located on the missegregated chromosomes. Abnormal expression of transcriptional regulators can also impact genes on the properly segregated chromosomes. The consequences of these perturbations in gene expression depend on the specific chromosomes affected and on the interplay of the aneuploid phenotype with the environment. Most often, these novel chromosome distributions are detrimental to the health and survival of the organism. However, in a changed environment, alterations in gene copy number may generate a more highly adapted phenotype. Chromosome segregation errors also have important implications in human health. They may promote drug resistance in pathogenic microorganisms. In cancer cells, they are a source for genetic and phenotypic variability that may select for populations with increased malignance and resistance to therapy. Lastly, chromosome segregation errors during gamete formation in meiosis are a primary cause of human birth defects and infertility. This review describes the consequences of mitotic and meiotic errors focusing on novel concepts and human health.

  6. Genotype/phenotype correlation in women with nonmosaic X chromosome deletions and Turner syndrome

    Zinn, A.R. [Univ. of Texas Southwestern Medical School, Dallas, TX (United States)

    1994-09-01

    Turner syndrome is a complex human developmental disorder associated with the absence of the second sex chromosome (monosomy X). Cardinal features of the Turner phenotype include high intrauterine lethality, growth retardation, gonadal failure, and the variable presence of specific somatic abnormalities such as webbed neck, lymphedema, and skeletal abnormalities. Recent observations support the hypothesis that the phenotype associated with monosomy X results from haploid dosage of genes common the X and Y chromosomes that escape X-inactivation ({open_quotes}Turner genes{close_quotes}). Apart from a locus causing short stature that maps to the pseudoautosomal region on the distal short arm, the location of X-linked Turner genes is not known. Karyotype/phenotype correlations in women with partial X deletions have been inconsistent. However, previous studies have focused on sporadic sex chromosome aberrations and may have been confounded by occult mosaicism. In addition, mapping of deletions was limited by the resolution of cytogenetic techniques. I am reexamining genotype/phenotype correlations in partial X monosomy, focusing on a subset of cases in which mosaicism is highly unlikely (e.g., unbalanced X-autosome translocations, familial X deletions), and using molecular techniques to map deletions. I have collected eight cases of nonmosaic X deletions in women with varied manifestations of Turner syndrome. Cytogenetic data suggests that genes responsible for Turner anatomic abnormalities may lie within a critical region of the very proximal portion of the short arm (Xp11). Molecular characterization of the deletions is in progress. Methods include (1) fluorescence in situ hybridization of metaphase spreads from patient-derived cell lines, using cosmid probes that map to known locations on Xp, and (2) sequence tagged site (STS) content mapping of somatic cell hybrids retaining the deleted X chromosomes derived from these cell lines.

  7. Undetected sex chromosome aneuploidy by chromosomal microarray.

    Markus-Bustani, Keren; Yaron, Yuval; Goldstein, Myriam; Orr-Urtreger, Avi; Ben-Shachar, Shay

    2012-11-01

    We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting.

  8. Comprehensive meiotic segregation analysis of a 4-breakpoint t(1;3;6) complex chromosome rearrangement using single sperm array comparative genomic hybridization and FISH.

    Hornak, Miroslav; Vozdova, Miluse; Musilova, Petra; Prinosilova, Petra; Oracova, Eva; Linkova, Vlasta; Vesela, Katerina; Rubes, Jiri

    2014-10-01

    Complex chromosomal rearrangements (CCR) represent rare structural chromosome abnormalities frequently associated with infertility. In this study, meiotic segregation in spermatozoa of an infertile normospermic carrier of a 4-breakpoint t(1;3;6) CCR was analysed. A newly developed array comparative genomic hybridization protocol was used, and all chromosomes in 50 single sperm cells were simultaneously examined. Three-colour FISH was used to analyse chromosome segregation in 1557 other single sperm cells. It was also used to measure an interchromosomal effect; sperm chromatin structure assay was used to measure chromatin integrity. A high-frequency of unbalanced spermatozoa (84%) was observed, mostly arising from the 3:3 symmetrical segregation mode. Array comparative genomic hybridization was used to detect additional aneuploidies in two out of 50 spermatozoa (4%) in chromosomes not involved in the complex chromosome rearrangement. Significantly increased rates of diploidy and XY disomy were found in the CCR carrier compared with the control group (P < 0.001). Defective condensation of sperm chromatin was also found in 22.7% of spermatozoa by sperm chromatin structure assay. The results indicate that the infertility in the man with CCR and normal spermatozoa was caused by a production of chromosomally unbalanced, XY disomic and diploid spermatozoa and spermatozoa with defective chromatin condensation.

  9. Hereditary urea cycle abnormality

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

  10. A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

    Joo Wook Ahn

    2014-04-01

    Full Text Available Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection of copy number variants (CNVs of unclear prognosis that cause parental anxiety.Methods. All prenatal samples fulfilling our criteria for karyotype analysis (n = 342 were tested by chromosomal microarray and only CNVs of established deletion/duplication syndrome regions and any other CNV >3 Mb were detected and reported. A retrospective full-resolution analysis of 249 of these samples was carried out to ascertain the performance of this testing strategy.Results. Using our prenatal analysis, 23/342 (6.7% samples were found to be abnormal. Of the remaining samples, 249 were anonymized and reanalyzed at full-resolution; a further 46 CNVs were detected in 44 of these cases (17.7%. None of these additional CNVs were of clear clinical significance.Conclusion. This prenatal chromosomal microarray strategy detected all CNVs of clear prognostic value and did not miss any CNVs of clear clinical significance. This strategy avoided both the problems associated with interpreting CNVs of uncertain prognosis and the parental anxiety that are a result of such findings.

  11. Vibrio chromosome-specific families

    Lukjancenko, Oksana; Ussery, David

    2014-01-01

    We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished...

  12. Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran

    Najmeh Jouyan

    2012-01-01

    Full Text Available Background: Chromosome abnormality (CA including Sex chromosomes abnormality (SCAs is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth. Objective: This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study. Materials and Methods: Blood samples of 4151 patients referred for cytogenetic analysis were cultured for chromosome preparation. Karyotypes were prepared for all samples and G-Banded chromosomes were analyzed using x100 objective lens. Sex chromosome aneuploidy cases were analyzed and categorized in two groups of Turners and Klinefelter’s syndrome (KFS. Results: Out of 230 (5.54% cases with chromosomally abnormal karyotype, 122 (30% cases suspected of sexual disorder showed SCA including 46% Turner’s syndrome, 46% KFS and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of Turner’s syndrome was 33% and 67%, this was 55% and 45% for KFS, respectively. Conclusion: This study shows a relatively high sex chromosome abnormality in this region and provides cytogenetic data to assist clinicians and genetic counselors to determine the priority of requesting cytogenetic study. Differences between results from various reports can be due to different genetic background or ethnicity.

  13. Rapid generation of region-specific probes by chromosome microdissection: Application to the identification of chromosomal rearrangements

    Trent, J.M.; Guan, X.Y.; Zang, J.; Meltzer, P.S. (Univ. of Michigan, Ann Arbor (United States))

    1993-01-01

    The authors present results using a novel strategy for chromosome microdissection and direct in vitro amplification of specific chromosomal regions, to identify cryptic chromosome alterations, and to rapidly generate region-specific genomic probes. First, banded chromosomes are microdissected and directly PCR amplified by a procedure which eliminates microchemistry (Meltzer, et al., Nature Genetics, 1:24, 1992). The resulting PCR product can be used for several applications including direct labeling for fluorescent in situ hybridization (FISH) to normal metaphase chromosomes. A second application of this procedure is the extremely rapid generation of chromosome region-specific probes. This approach has been successfully used to determine the derivation of chromosome segments unidentifiable by standard chromosome banding analysis. In selected instances these probes have also been used on interphase nuclei and provides the potential for assessing chromosome abnormalities in a variety of cell lineages. The microdissection probes (which can be generated in <24 hours) have also been utilized in direct library screening and provide the possibility of acquiring a significant number of region-specific probes for any chromosome band. This procedure extends the limits of conventional cytogenetic analysis by providing an extremely rapid source of numerous band-specific probes, and by enabling the direct analysis of essentially any unknown chromosome region.

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

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

    2014-05-01

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

  15. Oral abnormalities in the Ellis-van Creveld syndrome

    Babaji Prashant

    2010-01-01

    Full Text Available Ellis-van Creveld (EvC syndrome is an autosomal recessive disorder, mainly affecting the ectodermal components such as, enamel, nail, and hair. The gene for EvC syndrome is located on chromosome 4p16. Patients with EvC syndrome characteristically presents with congenitally missing teeth, abnormal frenal attachment, microdontia, and hexadactyly.

  16. Oral abnormalities in the Ellis-van Creveld syndrome.

    Babaji, Prashant

    2010-01-01

    Ellis-van Creveld (EvC) syndrome is an autosomal recessive disorder, mainly affecting the ectodermal components such as, enamel, nail, and hair. The gene for EvC syndrome is located on chromosome 4p16. Patients with EvC syndrome characteristically presents with congenitally missing teeth, abnormal frenal attachment, microdontia, and hexadactyly.

  17. Aberrations of chromosome 8 in myelodysplastic syndromes: Clinical and biological significance

    Marisavljević Dragomir

    2006-01-01

    Full Text Available Introduction: Rearrangements of any single chromosome in human karyotype have been reported in patients with pMDS. Objective: To examine the role of aberrations of chromosome 8 in pathogenesis, clinical presentation and progression of myelodysplastic syndromes. Method: Cytogenetic analysis of bone marrow cells was carried out by direct method and by means of 24- and/or 48-hour unstimulated cell culture. Chromosomes were obtained by modified method of HG-bands. Results: On presentation, 109 out of 271 successfully karyotyped patients (40,2% had abnormal karyotypes. Among them, 22 patients (10.9% had aberrations of chromosome 8. Ten patients had trisomy 8 as "simple" aberration whilst additional three cases had trisomy 8 included in "complex" karyotypes (≥3 chromosomes. Cases with constitutional trisomy 8 mosaicism (CT8M were excluded using the chromosome analyses of PHA-stimulated blood cultures. On the contrary, monosomy (seven patients or deletion of chromosome 8 (two patients were exclusively found in "complex" karyotypes. During prolonged cytogenetic follow-up, trisomy 8 was not recorded in evolving karyotypes. In contrast, trisomy 8 disappeared in two cases during subsequent cytogenetic studies, i.e. 23 and 72 months from diagnosis, accompanied in one patient with complete hematological remission. No difference regarding age, sex, cytopenia, blood and marrow blast count or response to treatment was found between patients with trisomy 8 as the sole aberration compared to those with normal cytogenetics. Median survival of patients with trisomy 8 as the sole aberration was 27 months, as compared to 32 months in patients with normal cytogenetics (p=0.468, whilst median survival of patients with aberrations of chromosome 8 included in "complex" karyotypes was only 4 months. Conclusion: Aberrations of chromosome 8 are common in patients with pMDS. The presence of a clone with trisomy 8 is not always the sign of disease progression or poor

  18. Intraspecific chromosome variability

    N Dubinin

    2010-12-01

    Full Text Available (Editorial preface. The publication is presented in order to remind us of one of dramatic pages of the history of genetics. It re-opens for the contemporary reader a comprehensive work marking the priority change from plant cytogenetics to animal cytogenetics led by wide population studies which were conducted on Drosophila polytene chromosomes. The year of the publication (1937 became the point of irretrievable branching between the directions of Old World and New World genetics connected with the problems of chromosome variability and its significance for the evolution of the species. The famous book of T. Dobzhansky (1937 was published by Columbia University in the US under the title “Genetics and the origin of species”, and in the shadow of this American ‘skybuilding’ all other works grew dim. It is remarkable that both Dobzhansky and Dubinin come to similar conclusions about the role of chromosomes in speciation. This is not surprising given that they both might be considered as representatives of the Russian genetic school, by their birth and education. Interestingly, Dobzhansky had never referred to the full paper of Dubinin et al. (1937, though a previous short communication in Nature (1936 was included together with all former papers on the related subject. In full, the volume of the original publication printed in the Biological Journal in Moscow comprised 47 pages, in that number 41 pages of the Russian text accompanied by 16 Figs, a table and reference list, and, above all, 6 pages of the English summary. This final part in English is now reproduced in the authors’ version with the only addition being the reference list in the originally printed form.

  19. Human oocytes. Error-prone chromosome-mediated spindle assembly favors chromosome segregation defects in human oocytes.

    Holubcová, Zuzana; Blayney, Martyn; Elder, Kay; Schuh, Melina

    2015-06-05

    Aneuploidy in human eggs is the leading cause of pregnancy loss and several genetic disorders such as Down syndrome. Most aneuploidy results from chromosome segregation errors during the meiotic divisions of an oocyte, the egg's progenitor cell. The basis for particularly error-prone chromosome segregation in human oocytes is not known. We analyzed meiosis in more than 100 live human oocytes and identified an error-prone chromosome-mediated spindle assembly mechanism as a major contributor to chromosome segregation defects. Human oocytes assembled a meiotic spindle independently of either centrosomes or other microtubule organizing centers. Instead, spindle assembly was mediated by chromosomes and the small guanosine triphosphatase Ran in a process requiring ~16 hours. This unusually long spindle assembly period was marked by intrinsic spindle instability and abnormal kinetochore-microtubule attachments, which favor chromosome segregation errors and provide a possible explanation for high rates of aneuploidy in human eggs.

  20. Chromosome Disorder Outreach

    ... BLOG Join Us Donate You are not alone. Chromosome Disorder Outreach, Inc. is a non-profit organization, ... Support For all those diagnosed with any rare chromosome disorder. Since 1992, CDO has supported the parents ...

  1. Small Supernumerary Marker Chromosomes in Human Infertility.

    Armanet, Narjes; Tosca, Lucie; Brisset, Sophie; Liehr, Thomas; Tachdjian, Gérard

    2015-01-01

    Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by banding cytogenetics. The objective of this study was to provide an overview of sSMC frequency and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature review on sSMC associated with infertility was conducted by means of a PubMed literature and a sSMC database (http://ssmc-tl.com/sSMC.html) search. A total of 234 patients with infertility were identified as carriers of sSMC. All chromosomes, except chromosomes 10, 19 and the X, were involved in sSMC, and in 72% the sSMC originated from acrocentric chromosomes. Euchromatic imbalances were caused by the presence of sSMC in 30% of the cases. Putative genes have been identified in only 1.2% of sSMC associated with infertility. The implication of sSMC in infertility could be due to a partial trisomy of some genes but also to mechanical effects perturbing meiosis. Further precise molecular and interphase-architecture studies on sSMC are needed in the future to characterize the relationship between this chromosomal anomaly and human infertility.

  2. Human Sperm Chromosome Analysis—Study on Human Sperm Chromosome Mutagenesis Induced by Carbon Disulfide

    LEJUN-YI; FUXIAO-MIN

    1996-01-01

    The aim of this study was to investigate the effect CS2 of on human sperm chromosomal aberration.The human sperm/hamster egg fusion techniquse was used to analyze 203 human sperm chromosome complement form 9 healthy volunteers.The incidence of numerical aberration was 1.0%,and that of structural chromosome aberration was 5.9% and total abnormalities was 6.9%.Structural aberrations consisted of breaks,deletions, centric rings,fragments,and chromatid exchange.The results from high concentration group(10μmol·L-1 CS2)showed that the incidence of chromosomal aberration rate was significantly higher than that of the control group.The results indicate that high concentration of CS2 might directly cause mutatenesis f the germ cell.

  3. Recovery and Visualization of 3D Structure of Chromosomes from Tomographic Reconstruction Images

    Tsap Leonid V

    2006-01-01

    Full Text Available The objectives of this work include automatic recovery and visualization of a 3D chromosome structure from a sequence of 2D tomographic reconstruction images taken through the nucleus of a cell. Structure is very important for biologists as it affects chromosome functions, behavior of the cell, and its state. Analysis of chromosome structure is significant in the detection of diseases, identification of chromosomal abnormalities, study of DNA structural conformation, in-depth study of chromosomal surface morphology, observation of in vivo behavior of the chromosomes over time, and in monitoring environmental gene mutations. The methodology incorporates thresholding based on a histogram analysis with a polyline splitting algorithm, contour extraction via active contours, and detection of the 3D chromosome structure by establishing corresponding regions throughout the slices. Visualization using point cloud meshing generates a 3D surface. The 3D triangular mesh of the chromosomes provides surface detail and allows a user to interactively analyze chromosomes using visualization software.

  4. Environmental contaminants and chromosomal damage associated with beak deformities in a resident North American passerine.

    Handel, Colleen M; Van Hemert, Caroline

    2015-02-01

    A large cluster of beak abnormalities among black-capped chickadees (Poecile atricapillus) in Alaska raised concern about underlying environmental factors in this region. Metals and trace elements, organochlorine pesticides, polychlorinated biphenyls (PCBs), and polychlorinated dibenzo-dioxins and polychlorinated dibenzofurans (PCDD-Fs) were analyzed in adults, nestlings, and eggs of the affected population; local bird seed was also tested for organochlorine pesticides. The results offered no support for the hypothesis that selenium or any other inorganic element was responsible for beak deformities among chickadees, but some evidence that organochlorine compounds may be contributing factors. Adults with beak deformities had an elevated level of chromosomal damage, which was correlated with lipid level and concentrations of several organochlorine compounds. Multivariate analyses of pesticides and PCBs did not distinguish abnormal from normal adults, but subsequent univariate analysis demonstrated higher concentrations of heptachlor epoxide and PCB-123 in abnormal adults. Concentrations of all organochlorine compounds were low, and none is known to cause beak or keratin abnormalities. Patterns of PCB congener concentrations differed between nestlings with normal and abnormal parents. Eggs from clutches with low hatchability had higher concentrations of hexachlorobenzene and PCDD-Fs than those with high hatching success, and hexachlorobenzene was found in seeds. Additional testing for PCDD-Fs, polycyclic aromatic hydrocarbons, and other emerging contaminants, including brominated compounds, is needed to rule out environmental contaminants as a cause of beak deformities in chickadees in Alaska.

  5. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

    Sperling, Lene; Kiil, C; Larsen, L U;

    2007-01-01

    by assisted reproduction. The incidence of TTTS was 23% from 12 weeks until delivery, and all those monochorionic twin pregnancies that miscarried had signs of TTTS. CONCLUSION: Twin pregnancies have an increased risk of congenital malformations and one out of four monochorionic pregnancies develops TTTS...

  6. Chromosome painting in plants.

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in si

  7. ZEBRAFISH CHROMOSOME-BANDING

    PIJNACKER, LP; FERWERDA, MA

    1995-01-01

    Banding techniques were carried out on metaphase chromosomes of zebrafish (Danio rerio) embryos. The karyotypes with the longest chromosomes consist of 12 metacentrics, 26 submetacentrics, and 12 subtelocentrics (2n = 50). All centromeres are C-band positive. Eight chromosomes have a pericentric C-b

  8. "Jeopardy" in Abnormal Psychology.

    Keutzer, Carolin S.

    1993-01-01

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

  9. Abnormal menstrual periods (image)

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

  10. Abnormal protein aggregationand neurodegenerativediseases

    2001-01-01

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

  11. Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

    L.T. van der Veken (Lars); M.M.J. Dieleman (Marianne); H. Douben (Hannie); J.C. van de Brug (Judith); R. van de Graaf (Raoul); A.J.M. Hoogeboom; P.J. Poddighe (Pino); J.E.M.M. de Klein (Annelies)

    2010-01-01

    textabstractBackground. Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities mi

  12. 国产探针荧光原位杂交技术用于产前诊断未培养羊水细胞染色体异常的研究%Application of fluorescence in situ hybridization in prenatal diagnosis of chromosomal abnormalities in uncultured amniocytes: a multi-center study

    王树玉; 黄醒华; 贾婵维; 李颖; 任国庆

    2009-01-01

    目的 探讨国产探针荧光原位杂交(FISH)技术用于产前诊断未培养羊水细胞染色体非整倍体异常的临床价值,评价国产探针的性能.方法 应用FISH技术埘全旧37家省级及地区级医院产前诊断中心就诊的孕16~24周的1369例孕妇的未培养羊水细胞进行快速产前诊断;应用多色FISH技术对5条染色体(21、13、18、X和Y)进行检测.同时将羊水细胞接种、培养,行常规细胞染色体核型分析,作为FISH检测结果的对照.结果 被检测的1369份样本中,1361例未培养羊水细胞获得诊断结果,检测成功率99.42%(1361/1369).共检出异常核型35例,异常核型枪出率为2.57%(35/1361),其中包括21三体22例;13三体4例;18三体6例;18二倍体、X0 1例;18二倍体、XXY 2例.FISH榆测结果与常规细胞染色体核型分析结果一致.结论 应用国产探针FISH技术检测未培养羊水细胞染色体数目异常具有快速、简便、所用样本量少的优势,结果准确可靠.%Objective To evaluate the application of domestic probe fluorescence in situ hybridization (FISH) in prenatal diagnosis on uncultured amniocytes aneuploid. Methods One thousand three hundred and sixty-nine uncultured amniocytes (16-24 gestational weeks) from 37 hospitals in China were selected for prenatal diagnosis. 5 chromosomes (21, 13, 18, X and Y) were detected with muhicolor FISH. In the mean time, cytogenetic karyotype analysis was performed as control. Results Of all the samples, 1361 samples were successfully tested by FISH, the rate of successful detection was 99.42% (1361/1369). Thirty-five samples were shown with abnormal karyotypes by domestic FISH probe, the abnormal rate is 2. 57% (35/1361 ), including trisomy 21 (22 samples), trisomy 13 (4 samples), trisomy 18(6 samples), X0 (1 sample) and XXY (2 samples). Results of both FISH and cytogenetic karyotype analysis exhibited extreme concordance. Conclusion Domestic FISH probe used in prenatal diagnosis on

  13. Y Chromosome Regulation of Autism Susceptibility Genes

    2009-06-01

    of chromatin immunoprecipitation and genome-wide promoter tiling microarray (ChIP-Chip) experiments with gonadal cells isolated from mouse embryos ...disorders: developmental disconnection syndromes. Curr Opin Neurobiol, 2007. 17(1): p. 103-11. 4. Kumar, R.A. and S.L. Christian , Genetics of autism... Christian , S.L., et al., Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry, 2008. 63(12): p. 1111

  14. Nail abnormalities in patients with vitiligo*

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

    2016-01-01

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

  15. Chromosome 11q13 deletion syndrome

    Kim, Yu-Seon; Kim, Gun-Ha; Byeon, Jung Hye; Eun, So-Hee

    2016-01-01

    Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care. PMID:28018436

  16. 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.

  17. Meiotic chromosome behaviour in Cenchrus ciliaris

    N. C. Visser

    1998-12-01

    Full Text Available A basic chromosome number of x = 9 has been confirmed for Cenchrus ciliaris L. Polyploidy is common and levels vary from tetraploid to hexaploid. Aneuploidv is reported for a single specimen, where two chromosomes of a single genome were lost. Various meiotic irregularities were observed. The highest incidence of meiotic abnormalities was observed in the pentaploid specimens. This was attributed to their uneven polyploid level All specimens varied from segmental alloploid to alloploid.

  18. Acute nonlymphocytic leukemia in adults: correlations with Q-banded chromosomes

    Golomb, H.M.; Vardiman, J.; Rowley, J.D.

    1976-07-01

    Chromosome banding patterns were obtained for 50 of 55 consecutive adult patients with acute nonlymphocytic leukemia during a 5-yr period. Twenty-two of the 50 cases were diagnosed as acute myelocytic leukemia (AML), 24 as acute myelomonocytic leukemia (AMMol), 2 as acute promyelocytic leukemia (APL), and 2 as erythroleukemia. Twenty-five patients had initial chromosome abnormalities, and five more patients developed abnormalities during the course of the disease. The median survival of patients with normal chromosomes initially (group 1) was 10 mo, whereas that of patients with abnormal chromosomes initially (group II) was 2 mo. Similar times were obtained for treated patients with AML and AMMol. However, when the AML patients were separated into those with and those without a chromosome abnormality, the median survival times were markedly different (2 mo versus 18 mo, respectively). Patients with AMMol demonstrated no difference in median survival times when subgrouped according to the presence or absence of chromosome abnormalities. The treated group II patients whose marrow samples had only abnormal metaphases had a poorer response (10 percent complete remission) and median survival (2 mo) than the group II patients who had at least one normal metaphase (42 percent complete remission with a median survival of 9 mo). The two cases of APL demonstrated a deletion of the long arm of No. 17 which occurred in the same region of the chromosome in each case. Both patients had similar clinical histories, with disseminated intravascular coagulation, and neither responded to therapy.

  19. 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.

  20. Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q with pericentric inversion of chromosome 9.

    Parmar R

    2003-01-01

    Full Text Available This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.

  1. 慢性髓性白血病酪氨酸激酶抑制剂治疗后出现Ph-细胞染色体异常八例临床观察%Clinical observation of chromosomal abnormalities in Ph negative cells of chronic myeloid leukemia patients treated with tyrosine kinase inhibitors

    王娟; 张莉; 周健; 祖璎玲; 李珍; 宋永平

    2016-01-01

    Objective To observe the clinical features,characteristics and outcomes of chromosomal abnormalities in Philadelphia negative cells (Ph-CA) of chronic myeloid leukemia (CML) patients treated with tyrosine kinase inhibitor (TKI),and provide the evidence for clinical treatment.Methods We collected and analyzed the clinical and laboratory data of 8 CML patients treated in the affiliated Tumor Hospital of Zhengzhou University from September 2011 to July 2015 and Ph-CA occurred after TKI therapy.Karyotypes and BCR-ABL fusion genes were analyzed by R-banding and real-time quantitative polymerase chain reaction (RT-PCR),respectively.Results 6 cases were male and 2 cases were female,with a median age of 51 (31-75) years old.6 patients had low Sokal risk scores and 2 had intermediate scores.4 cases of Ph-CA occurred with imatinib,1 case with dasatinib and 3 cases with nilotinib.The median duration of Ph-CA appearance was 12.0 (1.7-34.5)months since taking TKI.Chromosomal abnormality +8 was the most common type in Ph-CA,which accounted for 50.0%,followed by-7 (25.0%).When found Ph CA,all patients had complete hematologic response (CHR),but none got main molecular response (MMR).The Ph-CA had gone in 7 cases at the end of follow-up and the median duration was 6.2 (2.5-31.5) months.After Ph-CA disappeared,1 patient obtained MMR and 2 cases achieved complete molecular response (CMR),but Ph+ clone recurred in 1 case.Conclusion Ph CA can be found in CML patients treated with imatinib,dasatinib and nilotinib,and +8 is the most common Ph-CA.So detection of karyotype is significant during treatment.Although most Ph CA can disappear,-7/7q-or other complex karyotypes should be monitored closely.%目的 观察酪氨酸激酶抑制剂(TKI)治疗后出现Ph细胞染色体异常(chromosomalabnormalities in Ph negative cells,Ph-CA)慢性髓性白血病(CML)患者的临床特征、染色体特点、转归,为临床治疗提供依据.方法 收集并分析2011年9月至2015年7

  2. The molecular characterization of maize B chromosome specific AFLPs

    2002-01-01

    The origin and evolution of B chromosomes could be explained by the specific DNA sequence on them.But the specific sequences known were quite limited. To investigate maize B chromosome sqicific DNA sequeces, maize genomes with and without B chromosomes were analyzed by AFLP. Only 5 markers were found specific to genomes with B chromosomes among about 2000 AFLP markers. Southern hybridization and sequence analysis revealed that only the sequence of M8-2D was a B chromosome specific sequence.This sequence contained the telomeric repeat unit AGGGTTT conserved in plant chromosome telomeres.In addition, the sequence of M8-2D shared low homology to clones from maize chromosome 4 centromere as well. M8-2D were localized to B chromosome centromeric and telomeric regions.

  3. Affected chromosome homeostasis and genomic instability of clonal yeast cultures.

    Adamczyk, Jagoda; Deregowska, Anna; Panek, Anita; Golec, Ewelina; Lewinska, Anna; Wnuk, Maciej

    2016-05-01

    Yeast cells originating from one single colony are considered genotypically and phenotypically identical. However, taking into account the cellular heterogeneity, it seems also important to monitor cell-to-cell variations within a clone population. In the present study, a comprehensive yeast karyotype screening was conducted using single chromosome comet assay. Chromosome-dependent and mutation-dependent changes in DNA (DNA with breaks or with abnormal replication intermediates) were studied using both single-gene deletion haploid mutants (bub1, bub2, mad1, tel1, rad1 and tor1) and diploid cells lacking one active gene of interest, namely BUB1/bub1, BUB2/bub2, MAD1/mad1, TEL1/tel1, RAD1/rad1 and TOR1/tor1 involved in the control of cell cycle progression, DNA repair and the regulation of longevity. Increased chromosome fragility and replication stress-mediated chromosome abnormalities were correlated with elevated incidence of genomic instability, namely aneuploid events-disomies, monosomies and to a lesser extent trisomies as judged by in situ comparative genomic hybridization (CGH). The tor1 longevity mutant with relatively balanced chromosome homeostasis was found the most genomically stable among analyzed mutants. During clonal yeast culture, spontaneously formed abnormal chromosome structures may stimulate changes in the ploidy state and, in turn, promote genomic heterogeneity. These alterations may be more accented in selected mutated genetic backgrounds, namely in yeast cells deficient in proper cell cycle regulation and DNA repair.

  4. 稽留流产患者染色体检查%Chromosome examination of missed abortion patients

    胡浩梅; 杨华; 殷振惠; 赵露

    2015-01-01

    Objective To investigate the relationship between the missed abortion and chromosome abnormality and guide the healthy birth.Methods From June 2014 to April 2015 in Tianjin central hospital of gynecology and obstetrics,we examined venous blood from 90 missed abortion couples for chromosome karyotype by lymphocyte culture method and we also examined their chromosome karyotype of abortion villus samples by high-throughput sequencing technologies.Results Out of the 90 couples' blood chromosome examinations,7 were abnormal,and the abnormal rate was 3.89%,including 3 cases reciprocal translocation,2 cases robertsonian translocation and 2 cases inversion.Abortion villus samples from the same population were also checked,of which 85 cases succeeded,with the success rate of 94.4%.Among them,villi chromosome abnormalities were found in 50 cases,including 39 cases with abnormal chromosome numbers,11 cases with abnormal chromosome structure,and the total abnormal rate was 58.8%.In addition,the villi chromosome abnormality rate of patients with recurrent missed abortion (≥ 2 times) and first missed abortion were 61.7% and 55.2%,respectively,and the difference was not significant (P > 0.05).The villi chromosome abnormality rate of pregnant women with age ≥ 35 years old was 71.1%,while the pregnant women with aged < 35 years old was 45% (P < 0.05).Conclusions Chromosome abnormality is an important cause of missed abortion;villi chromosome abnormality rate has nothing to do with the number of missed abortion;pregnant woman with age ≥ 35 years old is risk factor of the villi chromosome abnormality.%目的 探讨稽留流产与染色体异常的关系,指导优生.方法 对象为2014年6月至2015年4月在天津市中心妇产科医院就诊稽留流产夫妇,共90对.采用静脉血淋巴细胞培养行染色体核型检查,并对其90例清宫绒毛通过高通量测序技术进行染色体检查.结果 90对夫妇外周血染色体异常者共7

  5. Partial deletion of long arm of chromosome 17

    Golomb, H.M. (Univ. of Chicago, IL); Rowley, J.; Vardiman, J.; Baron, J.; Locker, G.; Krasnow, S.

    1976-07-01

    Two patients with acute promyelocytic leukemia had an identical chromosomal abnormality detected by fluorescence banding. In each case, the clinical course was rapidly fatal, and was characterized by a lack of response to chemotherapy with cytarabine and thioguanine, and was complicated by disseminated intravascular coagulation. Bone marrow cells from each patient contained 46 chromosomes; in each instance, however, one chromosome 17 had a deletion of almost one half of the proximal portion of the long arm (del(17)(q11q21 or 22)).

  6. Chromosomal mosaicism in mouse two-cell embryos after paternal exposure to acrylamide

    Marchetti, Francesco; Bishop, Jack; Lowe, Xiu; Wyrobek, Andrew J

    2008-10-14

    Chromosomal mosaicism in human preimplantation embryos is a common cause ofspontaneous abortions, however, our knowledge of its etiology is limited. We used multicolor fluorescence in situ hybridization (FISH) painting to investigate whether paternally-transmitted chromosomal aberrations result in mosaicism in mouse 2-cell embryos. Paternal exposure to acrylamide, an important industrial chemical also found in tobacco smoke and generated during the cooking process of starchy foods, produced significant increases in chromosomally defective 2-cell embryos, however, the effects were transient primarily affecting the postmeiotic stages of spermatogenesis. Comparisons with our previous study of zygotes demonstrated similar frequencies of chromosomally abnormal zygotes and 2-cell embryos suggesting that there was no apparent selection against numerical or structural chromosomal aberrations. However, the majority of affected 2-cell embryos were mosaics showing different chromosomal abnormalities in the two blastomeric metaphases. Analyses of chromosomal aberrations in zygotes and 2-cell embryos showed a tendency for loss of acentric fragments during the first mitotic division ofembryogenesis, while both dicentrics and translocations apparently underwent propersegregation. These results suggest that embryonic development can proceed up to the end of the second cell cycle of development in the presence of abnormal paternal chromosomes and that even dicentrics can persist through cell division. The high incidence of chromosomally mosaic 2-cell embryos suggests that the first mitotic division of embryogenesis is prone to missegregation errors and that paternally-transmitted chromosomal abnromalities increase the risk of missegregation leading to embryonic mosaicism.

  7. 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.

  8. Dynamic Investigation on Chromosome Aberration of a Human Retinoblastoma Cell Line SO-Rb_(50)

    1993-01-01

    G-banding and karyotype analyses of cells in seventeen passages of SO-Rb_(50) during a long period of culture for about four years were performed. Three chromosome markers 13q14~-, 1p36~+ and 12p13~+ were found. Cells possessed 13q14~- reduced to zero after the 200th passage while 1p~+ and 12p~+ cells increased to 100% after 30 and 200 passages respectively. Abnormal chromosomes, ring chromosomes, chromosome radiuses and double minutes were also observed. These chromosomal changes were more often seen b...

  9. [Dicentric Y chromosomes. First part: cytogenetic and molecular aspects].

    Bouayed Abdelmoula, N; Amouri, A

    2005-01-01

    Dicentric Y chromosomes have been reviewed twice in 1994 by Hsu et al. and in 1995 by Tuck-Muller et al. who showed that dic(Y) are the most common Y structural abnormalities and that their influence on gonadal and somatic development is extremely variable. The prediction of their phenotypic consequences is often difficult because of the variety of genomic sequences concerned by duplications and deletions, because of the variable degrees of mosaicism (cell line 45,X in particular) and at the end, because of identification and analysis technical difficulties of the structure of the rearranged Y chromosome. The clinical specter of this cytogenetic abnormality is rather wide going from almost-normal or infertile males, to females with or without stigmas of Turner syndrome. Middle phenotypes consist of various degrees of genital ambiguities. However, clinical expression seems to be related to the genomic capital of the Y chromosome, mainly the Y genes involved in the control of the process of the determination of gonads (Yp) and spermatogenesis (Yq) as well as control of the growth and the skeletal development (Yp). Here, we report a third comprehensive review of the literature concerning dicentric Y chromosomes reported since 1994. In the light of previous reviews as well as the recent data of the genetic cartography of the Y chromosome, we try, in this first part, to determine characteristics of reported dicentric Y chromosomes as well as their chromosomal mechanics, their mitotic stability and finally their cytogenetic and molecular investigations.

  10. Neocentric X-chromosome in a girl with Turner-like syndrome

    Hemmat Morteza

    2012-06-01

    Full Text Available Abstract Background Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocentromere in a 15-year-old girl with clinical features suggestive of Turner syndrome, including short stature and primary amenorrhea. Result G-banded chromosome analysis revealed a mosaic female karyotype involving two abnormal cell lines. One cell line (84% of analyzed metaphases had a structurally abnormal X chromosome (duplication of the long arm and deletion of the short arm and a normal X chromosome. The other cell line (16% of cells exhibited monosomy X. C-banding studies were negative for the abnormal X chromosome. FISH analysis revealed lack of hybridization of the abnormal X chromosome with both the X centromere-specific probe and the “all human centromeres” probe, a pattern consistent with lack of the X chromosome endogenous centromere. A FISH study using an XIST gene probe revealed the presence of two XIST genes, one on each long arm of the iso(Xq, required for inactivation of the abnormal X chromosome. R-banding also demonstrated inactivation of the abnormal X chromosome. An assay for centromeric protein C (CENP-C was positive on both the normal and the abnormal X chromosomes. The position of CENP-C in the abnormal X chromosome defined a neocentromere, which explains its mitotic stability. The karyotype is thus designated as 46,X,neo(X(qter- > q12::q12- > q21.2- > neo- > q21.2- > qter[42]/45,X[8], which is consistent with stigmata of Turner syndrome. The mother of this patient has a normal karyotype; however, the father was not available for study. Conclusion To our knowledge, this is the first case of mosaic Turner syndrome involving an analphoid iso(Xq chromosome with a proven neocentromere among 90 previously described cases with a proven neocentromere.

  11. Analysis of plant meiotic chromosomes by chromosome painting.

    Lysak, Martin A; Mandáková, Terezie

    2013-01-01

    Chromosome painting (CP) refers to visualization of large chromosome regions, entire chromosome arms, or entire chromosomes via fluorescence in situ hybridization (FISH). For CP in plants, contigs of chromosome-specific bacterial artificial chromosomes (BAC) from the target species or from a closely related species (comparative chromosome painting, CCP) are typically applied as painting probes. Extended pachytene chromosomes provide the highest resolution of CP in plants. CP enables identification and tracing of particular chromosome regions and/or entire chromosomes throughout all meiotic stages as well as corresponding chromosome territories in premeiotic interphase nuclei. Meiotic pairing and structural chromosome rearrangements (typically inversions and translocations) can be identified by CP. Here, we describe step-by-step protocols of CP and CCP in plant species including chromosome preparation, BAC DNA labeling, and multicolor FISH.

  12. Abnormalities in centrosome number in human embryos and embryonic stem cells.

    Gu, Yi-Fan; OuYang, Qi; Dai, Can; Lu, Chang-Fu; Lin, Ge; Gong, Fei; Lu, Guang-Xiu

    2016-05-01

    Chromosomal abnormalities are common in human embryos. Previous studies have suggested links between centrosome number and chromosome abnormalities, but information regarding abnormalities in centrosome number in human embryos is limited. We analyzed abnormalities in centrosome number in human embryos and embryonic stem cells (hESCs). Following normal fertilization, supernumerary centrosomes were present at rates of 7.3% in two-pronucleus (2PN)-stage zygotes and 6.5% in first-cleavage zygotes. Supernumerary centrosomes were also detected in 24.4% of blastomeres from 60% of embryos derived from 2PN zygotes. Conversely, in mono- (1PN) and tri-pronucleus (3PN) zygotes, the frequency of abnormal centrosome number increased substantially at first cleavage. Rates in blastomeres of Day-3 embryos, however, were about the same between embryos derived from 1PN and 2PN zygotes, whereas abnormalities in centrosome number were higher in those from 3PN zygotes. By comparison, the rate of abnormal centrosome numbers in hESCs was 1.5-11.2%. Thus, abnormalities in centrosome number existed in human zygotes and cleaved embryos-especially those resulting from aberrant fertilization-but the frequency of such abnormalities was lower in hESCs derived from these embryos. These findings identify a source of the chromosomal instability in human embryos and hESCs, and highlight new safety issues for human assisted reproductive technology. Mol. Reprod. Dev. 83: 392-404, 2016. © 2016 Wiley Periodicals, Inc.

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

    Abhijit

    2016-03-01

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

  14. The Precarious Prokaryotic Chromosome

    Kuzminov, Andrei

    2014-01-01

    Evolutionary selection for optimal genome preservation, replication, and expression should yield similar chromosome organizations in any type of cells. And yet, the chromosome organization is surprisingly different between eukaryotes and prokaryotes. The nuclear versus cytoplasmic accommodation of genetic material accounts for the distinct eukaryotic and prokaryotic modes of genome evolution, but it falls short of explaining the differences in the chromosome organization. I propose that the t...

  15. Mechanisms for chromosome segregation.

    Bouet, Jean-Yves; Stouf, Mathieu; Lebailly, Elise; Cornet, François

    2014-12-01

    Bacteria face the problem of segregating their gigantic chromosomes without a segregation period restricted in time and space, as Eukaryotes do. Segregation thus involves multiple activities, general or specific of a chromosome region and differentially controlled. Recent advances show that these various mechanisms conform to a “pair and release” rule, which appears as a general rule in DNA segregation. We describe the latest advances in segregation of bacterial chromosomes with emphasis on the different pair and release mechanisms.

  16. Loss of DNMT1o disrupts imprinted X chromosome inactivation and accentuates placental defects in females.

    Serge McGraw

    2013-11-01

    Full Text Available The maintenance of key germline derived DNA methylation patterns during preimplantation development depends on stores of DNA cytosine methyltransferase-1o (DNMT1o provided by the oocyte. Dnmt1o(mat-/- mouse embryos born to Dnmt1(Δ1o/Δ1o female mice lack DNMT1o protein and have disrupted genomic imprinting and associated phenotypic abnormalities. Here, we describe additional female-specific morphological abnormalities and DNA hypomethylation defects outside imprinted loci, restricted to extraembryonic tissue. Compared to male offspring, the placentae of female offspring of Dnmt1(Δ1o/Δ1o mothers displayed a higher incidence of genic and intergenic hypomethylation and more frequent and extreme placental dysmorphology. The majority of the affected loci were concentrated on the X chromosome and associated with aberrant biallelic expression, indicating that imprinted X-inactivation was perturbed. Hypomethylation of a key regulatory region of Xite within the X-inactivation center was present in female blastocysts shortly after the absence of methylation maintenance by DNMT1o at the 8-cell stage. The female preponderance of placental DNA hypomethylation associated with maternal DNMT1o deficiency provides evidence of additional roles beyond the maintenance of genomic imprints for DNA methylation events in the preimplantation embryo, including a role in imprinted X chromosome inactivation.

  17. Cortical Abnormalities in ADHD

    J Gordon Millichap

    2003-12-01

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

  18. 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...

  19. Lacrimal system abnormalities.

    Moore, B D

    1994-03-01

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

  20. DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations

    2015-01-01

    Background Abnormal sex chromosome numbers in humans are observed in Turner (45,X) and Klinefelter (47,XXY) syndromes. Both syndromes are associated with several clinical phenotypes, whose molecular mechanisms are obscure, and show a range of inter-individual penetrance. In order to understand the effect of abnormal numbers of X chromosome on the methylome and its correlation to the variable clinical phenotype, we performed a genome-wide methylation analysis using MeDIP and Illumina’s Infiniu...

  1. Bacterial chromosome segregation.

    Possoz, Christophe; Junier, Ivan; Espeli, Olivier

    2012-01-01

    Dividing cells have mechanisms to ensure that their genomes are faithfully segregated into daughter cells. In bacteria, the description of these mechanisms has been considerably improved in the recent years. This review focuses on the different aspects of bacterial chromosome segregation that can be understood thanks to the studies performed with model organisms: Escherichia coli, Bacillus subtilis, Caulobacter crescentus and Vibrio cholerae. We describe the global positionning of the nucleoid in the cell and the specific localization and dynamics of different chromosomal loci, kinetic and biophysic aspects of chromosome segregation are presented. Finally, a presentation of the key proteins involved in the chromosome segregation is made.

  2. Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia

    ZHANG Lijun 张丽君; PARKHURST JB; KERN WF; SCOTT KV; NICCUM D; MULVIHILL JJ; LI Shibo 李师伯

    2003-01-01

    Objectives To investigate patients with acute lymphoblastic leukemia (ALL) for TEL/AML1 fusion, BCR/ABL fusion, MLL gene rearrangements, and numerical changes of chromosomes 4, 10, 17 and 21 by fluorescence in situ hybridization (FISH) and to determine the relationship and the significance of those findings.Methods Fifty-one American patients (34 men and 17 women) were included in this study. Of them there were 41 patients with pro-B cell type ALL, 9 with B cell type ALL and 1 with T cell type ALL. Chromosome metaphases of each sample were prepared according to standard protocols. Fluorescence in situ hybridization was performed using commercially available DNA probes, including whole chromosome painting probes, locus specific probes, specific chromosome centromere probes and dual color/multiple color translocation fusion probes. The digital image analysis was carried out using Cytovision and Quips FISH programs.Results An overall incidence of chromosomal anomalies, including t (9;22), MLL gene rearrangements, t (12;21), and numerical chromosomal anomalies of chromosomes 4, 10, 17 and 21 was found in 33 patients (65%). Thirty-one of them were pediatric patients and two adults. The t (12;21) was the commonest chromosomal anomaly detected in this population; 14 out of the 45 pediatric patients (31%) were positive for TEL/AML1 fusion, among which three had an additional derivative 21 [t (12;21)], four had a deletion of 12p and two had an extra copy of chromosome 21. All 14 patients with positive TEL/AML1 fusion had ALL pre-B cell or B-cell lineage according to standard immunotyping. The percentage of cells with fusion signals ranged from 20% to 80%. All fourteen patients positive for TEL/AML1 gene fusion were mosaic. Three out of the 14 patients positive for the TEL/AML1 gene fusion were originally reported to be culture failures and none of the remaining eleven samples had been found to have chromosome 12 abnormalities by conventional cytogenetic techniques. All

  3. In situ hybridization to somatic chromosomes in Drosophila.

    Dernburg, Abby F

    2011-09-01

    In situ hybridization was originally developed as a technique for visualizing and physically mapping specific sequences on Drosophila melanogaster polytene chromosomes. Hybridization techniques can also be used to localize sequences on smaller, diploid chromosomes, such as condensed mitotic chromosomes. Variations of the method also allow the hybridization of probes to chromosomes within intact cells and tissues, rather than to chromosomes isolated from their cellular context and flattened on slides. This article presents methods for hybridizing fluorescent probes to chromosomes in whole-mount Drosophila tissues. These methods allow the investigation of nuclear organization even at stages where chromosomes are decondensed (as in interphase) or, for other reasons, cannot be discriminated in the light microscope. Consequently, they are useful for addressing a variety of cell biological questions. In addition to enhancing our understanding of somatic chromosome organization, this experimental approach has also revealed interactions among meiotic chromosomes in Drosophila females, which spend much of meiosis in a compact ball called the karyosome. Fluorescent in situ hybridization (FISH) methods can also be used to karyotype individual nuclei using chromosome-specific markers. With appropriate fixation conditions, hybridization to chromosomal DNA can be performed in conjunction with immunostaining, allowing the colocalization of cellular or chromosomal proteins.

  4. Detection of structural and numerical chomosomal abnormalities by ACM-FISH analysis in sperm of oligozoospermic infertility patients

    Schmid, T E; Brinkworth, M H; Hill, F; Sloter, E; Kamischke, A; Marchetti, F; Nieschlag, E; Wyrobek, A J

    2003-11-10

    Modern reproductive technologies are enabling the treatment of infertile men with severe disturbances of spermatogenesis. The possibility of elevated frequencies of genetically and chromosomally defective sperm has become an issue of concern with the increased usage of intracytoplasmic sperm injection (ICSI), which can enable men with severely impaired sperm production to father children. Several papers have been published about aneuploidy in oligozoospermic patients, but relatively little is known about chromosome structural aberrations in the sperm of these patients. We examined sperm from infertile, oligozoospermic individuals for structural and numerical chromosomal abnormalities using a multicolor ACM FISH assay that utilizes DNA probes specific for three regions of chromosome 1 to detect human sperm that carry numerical chromosomal abnormalities plus two categories of structural aberrations: duplications and deletions of 1pter and 1cen, and chromosomal breaks within the 1cen-1q12 region. There was a significant increase in the average frequencies of sperm with duplications and deletions in the infertility patients compared with the healthy concurrent controls. There was also a significantly elevated level of breaks within the 1cen-1q12 region. There was no evidence for an increase in chromosome-1 disomy, or in diploidy. Our data reveal that oligozoospermia is associated with chromosomal structural abnormalities suggesting that, oligozoospermic men carry a higher burden of transmissible, chromosome damage. The findings raise the possibility of elevated levels of transmissible chromosomal defects following ICSI treatment.

  5. A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification.

    Guilherme, R S; Cernach, M C S P; Sfakianakis, T E; Takeno, S S; Nardozza, L M M; Rossi, C; Bhatt, S S; Liehr, T; Melaragno, M I

    2013-01-01

    Constitutional complex chromosomal rearrangements (CCRs) are considered rare cytogenetic events. Most apparently balanced CCRs are de novo and are usually found in patients with abnormal phenotypes. High-resolution techniques are unveiling genomic imbalances in a great percentage of these cases. In this paper, we report a patient with growth and developmental delay, dysmorphic features, nervous system anomalies (pachygyria, hypoplasia of the corpus callosum and cerebellum), a marked reduction in the ossification of the cranial vault, skull base sclerosis, and cardiopathy who presents a CCR with 9 breakpoints involving 4 chromosomes (3, 6, 8 and 14) and a 0.6-Mb deletion in 14q24.1. Although the only genomic imbalance revealed by the array technique was a deletion, the clinical phenotype of the patient most likely cannot be attributed exclusively to haploinsufficiency. Other events must also be considered, including the disruption of critical genes and position effects. A combination of several different investigative approaches (G-banding, FISH with different probes and SNP array techniques) was required to describe this CCR in full, suggesting that CCRs may be more frequent than initially thought. Additionally, we propose that a chain chromosome breakage mechanism may have occurred as a single rearrangement event resulting in this CCR. This study demonstrates the importance of applying different cytogenetic and molecular techniques to detect subtle rearrangements and to delineate the rearrangements at a more accurate level, providing a better understanding of the mechanisms involved in CCR formation and a better correlation with phenotype.

  6. Phenotypic consequences of a mosaic marker chromosome identified by fluorescence in situ hybridization (FISH) as being derived from chromosome 16

    Ray, J.H.; Zhou, X.; Pletcher, B.A. [Cornell Univ. Medical College, Manhasset, NY (United States)] [and others

    1994-09-01

    De novo marker chromosomes are detected in 1 in 2500 amniotic fluid samples and are associated with a 10-15% risk for phenotypic abnormality. FISH can be utilized as a research tool to identify the origins of marker chromosomes. The phenotypic consequences of a marker chromosome derived from the short arm of chromosome 16 are described. A 26-year-old woman underwent amniocentesis at 28 weeks gestation because of a prenatally diagnosed tetralogy of Fallot. Follow-up ultrasounds also showed ventriculomegaly and cleft lip and palate. 32 of 45 cells had the karyotype 47,XY,+mar; the remaining cells were 46,XY. The de novo marker chromosome was C-band positive and non-satellited and failed to stain with distamycin A/DAPI. At birth the ultrasound findings were confirmed and dysmorphic features and cryptorchidism were noted. Although a newborn blood sample contained only normal cells, mosaicism was confirmed in 2 skin biopsies. FISH using whole-chromosome painting and alpha-satellite DNA probes showed that the marker chromosome had originated from chromosome 16. As proximal 16q is distamycin A/DAPI positive, the marker is apparently derived from proximal 16p. At 15 months of age, this child is hypotonic, globally delayed and is gavage-fed. His physical examination is significant for microbrachycephaly, a round face, sparse scalp hair, ocular hypertelorism, exotropia, a flat, wide nasal bridge and tip, mild micrognathia, and tapered fingers with lymphedema of hands and feet. Inguinal hernias have been repaired. His features are consistent with those described for patients trisomic for most or all of the short arm of chromosome 16. Marker chromosomes derived from the short arm of chromosome 16 appear to have phenotypic consequences. As the origin of more marker chromosomes are identified using FISH, their karyotype/phenotype correlations will become more apparent, which will permit more accurate genetic counseling.

  7. Genetic Abnormalities in Biliary Brush Samples for Distinguishing Cholangiocarcinoma from Benign Strictures in Primary Sclerosing Cholangitis

    Timmer, Margriet R.; Lau, Chiu T.; Meijer, Sybren L.; Fockens, Paul; Rauws, Erik A. J.; Ponsioen, Cyriel Y.; Calpe, Silvia; Krishnadath, Kausilia K.

    2016-01-01

    Background. Primary sclerosing cholangitis (PSC) is a chronic inflammatory liver disease and is strongly associated with cholangiocarcinoma (CCA). The lack of efficient diagnostic methods for CCA is a major problem. Testing for genetic abnormalities may increase the diagnostic value of cytology. Methods. We assessed genetic abnormalities for CDKN2A, TP53, ERBB2, 20q, MYC, and chromosomes 7 and 17 and measures of genetic clonal diversity in brush samples from 29 PSC patients with benign biliary strictures and 12 patients with sporadic CCA or PSC-associated CCA. Diagnostic performance of cytology alone and in combination with genetic markers was evaluated by sensitivity, specificity, and area under the curve analysis. Results. The presence of MYC gain and CDKN2A loss as well as a higher clonal diversity was significantly associated with malignancy. MYC gain increased the sensitivity of cytology from 50% to 83%. However, the specificity decreased from 97% to 76%. The diagnostic accuracy of the best performing measures of clonal diversity was similar to the combination of cytology and MYC. Adding CDKN2A loss to the panel had no additional benefit. Conclusion. Evaluation of MYC abnormalities and measures of clonal diversity in brush cytology specimens may be of clinical value in distinguishing CCA from benign biliary strictures in PSC. PMID:27127503

  8. Genetic Abnormalities in Biliary Brush Samples for Distinguishing Cholangiocarcinoma from Benign Strictures in Primary Sclerosing Cholangitis

    Margriet R. Timmer

    2016-01-01

    Full Text Available Background. Primary sclerosing cholangitis (PSC is a chronic inflammatory liver disease and is strongly associated with cholangiocarcinoma (CCA. The lack of efficient diagnostic methods for CCA is a major problem. Testing for genetic abnormalities may increase the diagnostic value of cytology. Methods. We assessed genetic abnormalities for CDKN2A, TP53, ERBB2, 20q, MYC, and chromosomes 7 and 17 and measures of genetic clonal diversity in brush samples from 29 PSC patients with benign biliary strictures and 12 patients with sporadic CCA or PSC-associated CCA. Diagnostic performance of cytology alone and in combination with genetic markers was evaluated by sensitivity, specificity, and area under the curve analysis. Results. The presence of MYC gain and CDKN2A loss as well as a higher clonal diversity was significantly associated with malignancy. MYC gain increased the sensitivity of cytology from 50% to 83%. However, the specificity decreased from 97% to 76%. The diagnostic accuracy of the best performing measures of clonal diversity was similar to the combination of cytology and MYC. Adding CDKN2A loss to the panel had no additional benefit. Conclusion. Evaluation of MYC abnormalities and measures of clonal diversity in brush cytology specimens may be of clinical value in distinguishing CCA from benign biliary strictures in PSC.

  9. Delimiting the origin of a B chromosome by FISH mapping, chromosome painting and DNA sequence analysis in Astyanax paranae (Teleostei, Characiformes).

    Silva, Duílio M Z de A; Pansonato-Alves, José Carlos; Utsunomia, Ricardo; Araya-Jaime, Cristian; Ruiz-Ruano, Francisco J; Daniel, Sandro Natal; Hashimoto, Diogo Teruo; Oliveira, Cláudio; Camacho, Juan Pedro M; Porto-Foresti, Fábio; Foresti, Fausto

    2014-01-01

    Supernumerary (B) chromosomes have been shown to contain a wide variety of repetitive sequences. For this reason, fluorescent in situ hybridisation (FISH) is a useful tool for ascertaining the origin of these genomic elements, especially when combined with painting from microdissected B chromosomes. In order to investigate the origin of B chromosomes in the fish species Astyanax paranae, these two approaches were used along with PCR amplification of specific DNA sequences obtained from the B chromosomes and its comparison with those residing in the A chromosomes. Remarkably, chromosome painting with the one-arm metacentric B chromosome probe showed hybridization signals on entire B chromosome, while FISH mapping revealed the presence of H1 histone and 18S rDNA genes symmetrically placed in both arms of the B chromosome. These results support the hypothesis that the B chromosome of A. paranae is an isochromosome. Additionally, the chromosome pairs Nos. 2 or 23 are considered the possible B chromosome ancestors since both contain syntenic H1 and 18S rRNA sequences. The analysis of DNA sequence fragments of the histone and rRNA genes obtained from the microdissected B chromosomes showed high similarity with those obtained from 0B individuals, which supports the intraspecific origin of B chromosomes in A. paranae. Finally, the population hereby analysed showed a female-biased B chromosome presence suggesting that B chromosomes in this species could influence sex determinism.

  10. Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy.

    Ferguson, Kyle A; Wong, Edgar Chan; Chow, Victor; Nigro, Mark; Ma, Sai

    2007-12-01

    Defects in early meiotic events are thought to play a critical role in male infertility; however, little is known regarding the relationship between early meiotic events and the chromosomal constitution of human sperm. Thus, we analyzed testicular tissue from 26 men (9 fertile and 17 infertile men), using immunofluorescent techniques to examine meiotic chromosomes, and fluorescent in situ hybridization to assess sperm aneuploidy. Based on a relatively small sample size, we observed that 42% (5/12) of men with impaired spermatogenesis displayed reduced genome-wide recombination when compared to the fertile men. Analysis of individual chromosomes showed chromosome-specific defects in recombination: chromosome 13 and 18 bivalents with only a single crossover and chromosome 21 bivalents lacking a crossover were more frequent among the infertile men. We identified two infertile men who displayed a novel meiotic defect in which the sex chromosomes failed to recombine: one man had an absence of sperm in the testes, while the other displayed increased sex chromosome aneuploidy in the sperm, resulting in a 45,X abortus after intracytoplasmic sperm injection.