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Sample records for additional chromosome abnormalities

  1. 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.

  2. Holoprosencephaly due to numeric chromosome abnormalities.

    Solomon, Benjamin D; Rosenbaum, Kenneth N; Meck, Jeanne M; Muenke, Maximilian

    2010-02-15

    Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently identified etiology in a patient with HPE. These abnormalities include trisomy 13, trisomy 18, and triploidy, though several others have been reported. Such chromosome number abnormalities are almost universally fatal early in gestation or in infancy. Clinical features of specific chromosome number abnormalities may be recognized by phenotypic manifestations in addition to the HPE. PMID:20104610

  3. Adults with Chromosome 18 Abnormalities.

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

    2015-08-01

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

  4. 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.

  5. Making chromosome abnormalities treatable conditions.

    Cody, Jannine DeMars; Hale, Daniel Esten

    2015-09-01

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

  6. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH SPERM DISORDERS

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

    2013-01-01

    Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intrac...

  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 RECURRENT MISCARRIAGE

    Daniela Mierla

    2012-06-01

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

  9. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    Daniela Mierla; Viorica Radoi; Veronica Stoian

    2012-01-01

    Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, ka...

  10. Holoprosencephaly due to Numeric Chromosome Abnormalities

    Solomon, Benjamin D.; Rosenbaum, Kenneth N.; Meck, Jeanne M.; Muenke, Maximilian

    2010-01-01

    Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently identified etiology in a patient with HPE. These abnormalities include trisomy 13, trisomy 18, and triploidy, though several others have been ...

  11. 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

  12. 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.

  13. 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.

  14. Autism and chromosome abnormalities-A review.

    Bergbaum, Anne; Ogilvie, Caroline Mackie

    2016-07-01

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

  15. 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. .

  16. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

    Mansouri, Mahmoud R.

    2006-01-01

    Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. They can also affect gene expression by separating a gene and its promoter element from distant regulatory elements. We have used characterisation of structural chromosomal abnormalit...

  17. Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

    Wladimiroff, Juriy; Bhaggoe, W.; Kristelijn, M. J E; Cohen-Overbeek, Titia; Hollander, Nicolette; Brandenburg, Helen; Los, F.J.

    1995-01-01

    textabstractStructural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abn...

  18. Autosomal Chromosome Abnormality: A Cause of Birth Defects.

    Plumridge, Diane

    Intended for parents and professionals, the book explains chromosome abnormalities in lay terms and discusses the relationship of specific conditions to birth defects. Chromosomal abnormalities are defined and factors in diagnosis and recurrence are discussed. Normal chromosome reproduction processes are covered while such numerical abnormalities…

  19. Occurrence and type of chromosomal abnormalities in consecutive malignant monoclonal gammopathies: correlation with survival

    Lisse, I M; Drivsholm, A; Christoffersen, P

    1988-01-01

    Chromosome studies were done on 73 patients with multiple myeloma and three patients with plasma cell leukemia. Eighteen of 76 patients (24%) had chromosomally abnormal clones, including all three patients with PCL. The most common anomalous chromosomes were #1, #14, and #12. In addition, i(17q...

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

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

    2013-10-01

    Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA. PMID:24132905

  1. 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.…

  2. 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.

  3. Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

    Mierla Dana

    2015-06-01

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

  4. 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....

  5. Chromosomal abnormalities and environmental exposures in acute nonlymphocytic leukemia

    Chromosomal abnormalities are present in bone marrow of approximately 50% of newly diagnostic acute nonlymphatic leukemia (ANLL) patients, but their etiologic significance, if any, is unclear. The frequency of environmental exposures, gathered by questionnaire from patients or relatives, was compared in 127 newly diagnosed ANLL patients with marrow abnormalities (AA) and 109 ANLL patients with cytogenetically normal marrow. These represented 73% of de novo patients treated at M. D. Anderson Hospital between 1976 and 1983. AA patients were more likely than NN patients to: report cytotoxic treatment for prior medical conditions, smoke cigarettes, drink alcoholic beverages, and work at occupations with possible exposure to mutagens. No statistically significant associations between aneuploidy and use of other tobacco, avocational exposure to chemicals or exposure to animals were present. Associations between specific abnormalities and prior cytotoxic therapy (deletion of chromosome 7), smoking (extra chromosome 8, inversion chromosome 16), and occupation at the time of diagnosis (translocation between chromosomes 8 and 21) were noted. No association between occupational exposure to benzene or ionizing radiation and the 6 most common chromosomal abnormalities in ANLL patients were noted, although these agents are known to be leukemogenic. Problems with interpreting the above associations, including the high nonresponse rate, a high proportion of surrogate respondents, and the large number of significance tests that were performed, are discussed. These results are consistent with those from previously reported series, and suggest that tumor-specific markers may be present for some exposures in this disease

  6. Survey of human chromosomal abnormalities in Iceland

    Jensson, O.; Hauksdottir, H.; Bjarnason, O.; Tulinius, H.

    1976-06-01

    The work of the Chromosome Laboratory of the Genetical Committee of the University of Iceland is reviewed. Initially, the main aim was to carry out cytogenetic typing of all individuals in Iceland with Down's syndrome available for study in institutions and homes, including individuals born in maternity clinics and homes during the eight years of investigation. The results of the chromosome investigation are summarized in Table 1. Lymphocyte cultures were made from a total of 932 individuals from September 1967 to 1975 and 152 individuals with Down's syndrome were cytogenetically typed. Unusual karyotype leading to Down's syndrome was found in 10 cases. Of these six were found to be mosaic, two had D/G and two G/G translocation. By cytogenetic family survey 13 D/G translocation carriers were detected in the family. A separate paper on the cytogenetic survey of Down's syndrome in Iceland is under way.

  7. 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

  8. Chromosomal abnormalities among children born with conotruncal cardiac defects

    Lammer, Edward J.; Chak, Jacqueline S.; Iovannisci, David M.; Schultz, Kathleen; Osoegawa, Kazutoyo; Yang, Wei; Carmichael, Suzan L.; Shaw, Gary M.

    2010-01-01

    BACKGROUND Conotruncal heart defects comprise 25%-30% of non-syndromic congenital heart defects. This study describes the frequency of chromosome abnormalities and microdeletion 22q11 associated with conotruncal heart malformations. METHODS From a population base of 974,579 infants/fetuses delivered, 622 Californian infants/fetuses were ascertained with a defect of aortico-pulmonary septation. Infants whose primary cardiac defect was tetralogy of Fallot (n=296) or D-transposition of the great vessels (n=189) were screened for microdeletions of 22q11. RESULTS Fourteen (2.3%) of the 622 infants/fetuses had chromosomal abnormalities. Thirty infants, 10% of those whose primary defect was tetralogy of Fallot, had chromosome 22q11 microdeletions. Right aortic arch, abnormal branching patterns of the major arteries arising from the thoracic aorta, and pulmonary artery abnormalities were observed more frequently in these children. CONCLUSIONS We found an unusual number of infants with an extra sex chromosome and a conotruncal defect. Infants with tetralogy of Fallot due to 22q11 microdeletion showed more associated vascular anomalies than infants with tetralogy but no 22q11 microdeletion. Although these associated vascular anomalies provide clues as to which infants with tetralogy of Fallot are more likely to carry the microdeletion, the overall risk of 10% among all infants with tetralogy of Fallot warrants chromosome analysis and FISH testing routinely. PMID:19067405

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

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

    2012-01-01

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

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

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

    2010-01-01

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

  11. Abnormalities of chromosome No. 1: significance in malignant transformation

    Rowley, J.D.

    1978-01-01

    Studies of human hematologic malignancies have provided sufficient data not only for the identification of nonrandom abnormalities of whole chromosomes, but also for determination of the specific chromosome regions involved. In clonal aberrations leading to an excess of chromosome No. 1, or a partial excess of No. 1, trisomy for bands 1q25 to 1q32 was noted in the myeloid cells obtained from every one of 35 patients who had various disorders, such as acute leukemia, polycythemia vera, or myelofibrosis. Similar chromosome changes were a consistent finding in various solid tumors as well. This rearrangement was not the result of a particularly fragile site in that region of the chromosome, since the break points in reciprocal translocations that involve No. 1 occurred almost exclusively in the short arm. The nonrandom chromosome changes found in neoplastic cells can now be correlated with the gene loci on these chromosomes or chromosome segments as an attempt is made to identify specific genes that might be related to malignancy.

  12. Mouse acute myeloid leukemia and abnormality in chromosome II

    This review described abnormality in chromosome II that is characteristic in the radiation-induced leukemia in the title (AML) in mice. The disease is reportedly increased in A-bomb survivors. AML occurs in mice of RFM, CBA and other strains 1-1.5 years after whole body irradiation. The incidence increases dependently on dose, however, it decreases over around the dose of 3 Gy of X- and γ-ray. The incidence (20-25%) is higher in males. Abnormality seen in chromosome II is classified in types I-IV and II-IV types involve terminal deletion, interstitial deletion and translocation. The deleted region common on the chromosome (marker chromosome) is about 1 cM long, which corresponds to human 11p11-12 region frequently deleted in AML patients. The AML marker chromosome is suggested to be yielded by genomic instability induced by radiation. It is also suggested that there are fragile sites in the chromosome II. Future investigations are conceivably to be concentrated for identification of the AML causing gene. (K.H.)

  13. 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.

  14. Screening for fetal chromosome abnormalities during the second trimester

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

  15. 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.

  16. Fetal Sonography for the Detection of Chromosomal Abnormality

    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

  17. 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

  18. Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

    Pober, Barbara R.

    2007-01-01

    Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations.

  19. 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.

  20. 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

  1. 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.

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

    Pleuropulmonary blastoma (PPB) is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour. 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. 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

  3. The relationship between induced chromosome aberrations and chromosome abnormality in tumour cells

    The occurrence of chromosome abnormalities in cancer cells and the induction of chromosome aberrations by many different carcinogenic agents are now well established facts and there are many detailed studies in both areas. It is known, however, whether or not there is any relationship between the induced aberrations and those seen in tumours. The purpose of this paper is to consider any evidence which might suggest that such a relationship does exist and the significance that this would have in the genesis of neoplasia. There are at least four chromosomal situations in human tumours: (a) cytogenetically normal, (b) clonal but unique, (c) clonal and specific for a particular neoplasm, (d) clonal and common to some tumours of different types. Any theory that we develop must take account of all four situations. A number of different suggestions have been made to try to explain the observation of chromosome abnormalities in human tumours. The one feature that does seem common to all situations is clonal evolution. A modified somatic mutation hypothesis to account for the chromosome changes occurring before and after malignant transformation is suggested

  4. 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.

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

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

    2001-01-01

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

  6. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

    Sperling, Lene; Kiil, C; Larsen, L U;

    2007-01-01

    OBJECTIVE: To evaluate the outcome of screening for structural malformations in twins and the outcome of screening for twin-twin transfusion syndrome (TTTS) among monochorionic twins through a number of ultrasound scans from 12 weeks' gestation. METHODS: Enrolled into this prospective multicenter...... specialists in fetal echocardiography. Zygosity was determined by DNA analysis in all twin pairs with the same sex. RESULTS: Among the 495 pregnancies the prenatal detection rate for severe structural abnormalities including chromosomal aneuploidies was 83% by the combination of a first-trimester nuchal...... translucency scan and the anomaly scan in week 19. The incidence of severe structural abnormalities was 2.6% and two-thirds of these anomalies were cardiac. There was no significant difference between the incidence in monozygotic and dizygotic twins, nor between twins conceived naturally or those conceived by...

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

    Carmen Comas

    2012-11-01

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

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

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

    2012-01-01

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

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

    Thomas George H; Ye Ying; Ting Jason C; Ruczinski Ingo; Pevsner Jonathan

    2006-01-01

    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 e...

  10. 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.

  11. 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.

  12. 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

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

    Ko Evelyn

    2006-01-01

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

  14. Risk of chromosomal abnormalities in early spontaneous abortion after assisted reproductive technology: a meta-analysis.

    Jun-Zhen Qin

    Full Text Available BACKGROUND: Studies on the risk of chromosomal abnormalities in early spontaneous abortion after assisted reproductive technology (ART are relatively controversial and insufficient. Thus, to obtain a more precise evaluation of the risk of embryonic chromosomal abnormalities in first-trimester miscarriage after ART, we performed a meta-analysis of all available case-control studies relating to the cytogenetic analysis of chromosomal abnormalities in first-trimester miscarriage after ART. METHODS: Literature search in the electronic databases MEDLINE, EMBASE, and Cochrane Central Register of Controlled Trials (CENTRAL based on the established strategy. Meta-regression, subgroup analysis, and Galbraith plots were conducted to explore the sources of heterogeneity. RESULTS: A total of 15 studies with 1,896 cases and 1,186 controls relevant to the risk of chromosomal abnormalities in first- trimester miscarriage after ART, and 8 studies with 601 cases and 602 controls evaluating frequency of chromosome anomaly for maternal age≥35 versus <35 were eligible for the meta-analysis. No statistical difference was found in risk of chromosomally abnormal miscarriage compared to natural conception and the different types of ART utilized, whereas the risk of fetal aneuploidy significantly increased with maternal age≥35 (OR 2.88, 95% CI: 1.74-4.77. CONCLUSIONS: ART treatment does not present an increased risk for chromosomal abnormalities occurring in a first trimester miscarriage, but incidence of fetal aneuploidy could increase significantly with advancing maternal age.

  15. 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...

  16. Chromosomal Abnormalities Subdivide Ependymal Tumors into Clinically Relevant Groups

    Hirose, Yuichi; Aldape, Kenneth; Bollen, Andrew; James, C. David; Brat, Daniel; Lamborn, Kathleen; Berger, Mitchel; Feuerstein, Burt G.

    2001-01-01

    Ependymoma occurs most frequently within the central nervous system of children and young adults. We determined relative chromosomal copy-number aberrations in 44 ependymomas using comparative genomic hybridization. The study included 24 intracranial and 20 spinal cord tumors from pediatric and adult patients. Frequent chromosomal aberrations in intracranial tumors were gain of 1q and losses on 6q, 9, and 13. Gain of 1q and loss on 9 were preferentially associated with histological grade 3 tumors. On the other hand, gain on chromosome 7 was recognized almost exclusively in spinal cord tumors, and was associated with various other chromosomal aberrations including frequent loss of 22q. We conclude that cytogenetic analysis of ependymomas may help to classify these tumors and provide leads concerning their initiation and progression. The relationship of these aberrations to patient outcome needs to be addressed. PMID:11238062

  17. 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.

  18. 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.

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

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

    1998-01-01

    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 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...

  20. Chromosomal abnormalities in mentally retarded children in the Konya region--Turkey.

    Cora, T; Demirel, S; Acar, A

    2000-01-01

    Etiology of mental retardation is diverse. 120 Students from 11 special training, education, and rehabilitation subclasses were investigated cytogenetically for determining the contribution of chromosomal abnormalities to mild mental retardation. 23 of the 120 children (19%) had chromosomal abnormalities: thirteen cases a classical trisomy 21 (the male:female ratio was 9:4), three a balanced autosomal reciprocal translocation, one a pericentric inversion of chromosome 9, and six fragile-X syndrome (The male:female ratio was 5:1). PMID:10756429

  1. 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.

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

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

  3. Chromosome abnormalities induced by anticancer drugs and radiation in cultured lymphocytes of children with acute leukemia in complete remission

    In an attempt to evaluate possible secondary carcinogenic and genetic effects of intensive chemotherapy and radiotherapy, the types and frequencies of chromosome abnormalities were investigated in cultured lymphocytes from 15 children with acute leukemia who had achieved therapeutically a complete remission. The controls were 14 healthy adults (group A). Of the 15 leukemic children, 12 had received only chemotherapy (group B), while the remaining 3 had received both chemotherapy and radiotherapy of central nervous system (group C). In addition, 2 brain tumor patients who had received cranial radiotherapy were studied (group D). A significantly higher incidence of chromosome abnormalities was observed in group B, C and D, as than in group A. The incidence of aberration was highest in group C, which was ascribed to the increased number of hypodiploid cells with chromosome-type structural rearrangements, probably due to the radiotherapy. In contrast, the chromosome aberrations shown in group B were mostly of chromatid type, though chromosome-type aberrations were also noted in some cases of this group. Comparing the aberration rates of groups C and D, it was suggested that cranial irradiation is less hazardous than spino-cranial irradiation. (J.P.N.)

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

    Suciu, Nicolae; Plaiasu, Vasilica

    2014-01-01

    Chromosome abnormalities represent the leading cause in many human genetic disorders. Gain or loss of genetic material can disrupt the normal expression of genes important in fetal development and result in abnormal phenotypes. Approximately 60% of first-trimester spontaneous abortions exhibit karyotype abnormalities. The majority of these abnormalities consist of numerical chromosomal changes, such as autosomal trisomy, monosomy X and polyploidy. In our current study, 411 cases were analyzed over a period of 5 years, which reflected the incidence of cytogenetic abnormalities in Romania. Down syndrome showed the highest frequency at 79%. At 2.6% structural chromosome abnormality syndromes and Turner syndrome followed suit. Next were the Edwards and Patau syndromes with an incidence of 1.2%. Klinefelter, Cri du chat and Wolf-Hirschhorn syndromes all had an incidence of 0.7%. Finally, the lowest frequencies were shown by Williams at 0.4% and only one case of Beckwith-Wiedemann syndrome with abnormal karyotype. The average maternal age at childbirth was 31.15 years (SD = 6.96) and the average paternal age was 33.41 years (SD = 7.17). PMID:23570267

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

    Faeza El-Dahtory

    2012-01-01

    Background: Primary amenorrhea is defined as the absence of menstruation and secondary sexual characteristics in phenotypic women aged 14 years or older. Hormonal disorders are main causes of primary amenorrhea. Common hormonal cause of primary amenorrhea includes pituitary dysfunction and absent ovarian function. The aim of this study was to estimate the incidence and types of chromosomal abnormalities in patients with primary amenorrhea in Egypt. Materials and Methods: Chromosomal analys...

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

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

    1990-01-01

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

  7. Endocrine abnormalities in ring chromosome 11: a case report and review of the literature

    Lange, Renata; Von Linsingen, Caoê; Mata, Fernanda; Moraes, Aline Barbosa; Arruda, Mariana; Vieira Neto, Leonardo

    2015-01-01

    Summary Ring chromosomes (RCs) are uncommon cytogenetic findings, and RC11 has only been described in 19 cases in the literature. Endocrine abnormalities associated with RC11 were reported for two of these cases. The clinical features of RC11 can result from an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic material loss. We herein describe a case of RC11 with clinical features of 11q-syndrome and endocrine abnormalities that h...

  8. 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.

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

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

    2008-09-01

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

  10. 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...

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

    Une,Tomoka

    2006-10-01

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

  12. 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.

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

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

    2015-01-01

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

  14. 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

  15. 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.

  16. A contribution to the differential diagnosis of the "group of schizophrenias": structural abnormality of chromosome 4.

    Palmour, R M; Miller, S; Fielding, A; Vekemans, M; Ervin, F R

    1994-01-01

    A structural abnormality of chromosome 4 [inv 4 (p15.2; q21.3)] is reported in a male presenting with DSM-III-R schizophrenia, undifferentiated type (295.94) and in his mother, who displayed symptoms associated with schizotypal personality disorder (DSM-III-R 301.22). The proband had a performance IQ of 91, poor motor coordination, stature in the lowest quartile and an impaired sense of time. There were no diagnostic physical or neurological abnormalities. Mild ventricular enlargement and pro...

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

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

    2015-01-01

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

  18. 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 ...

  19. 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

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

    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+ 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 ∼40

  1. Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.

    Kroes, Hester Y; Hochstenbach, Ron; Nievelstein, Rutger A J; Den Hollander, Anneke I; Lugtenberg, Dorien T; Van Nieuwenhuizen, Onno; Lindhout, Dick; Poot, Martin

    2011-07-01

    We describe two patients with severe developmental delay, hypotonia and breathing abnormalities initially diagnosed with the autosomal recessive Joubert syndrome (JBS) who at a later stage appeared to carry chromosomal abnormalities. One case was due to a 4.8 Mb terminal 1q44 deletion, and the other due to a 15.5 Mb duplication of Xq27.2-qter containing the MECP2 gene. Critical evaluation of the clinical data showed that, retrospectively, the cases did not fulfil the diagnostic criteria for JBS, and that the diagnosis of JBS was incorrectly made. We discuss the diagnostic pitfalls and recommend adhering strictly to the JBS diagnostic criteria in the case of a negative molecular diagnosis. Critical assessment of the MRI findings by a specialized neuroradiologist is imperative. As chromosomal abnormalities may give rise to symptoms resembling JBS, we recommend array-based screening for segmental aneuploidies as an initial genetic test in all cases with a JBS-like phenotype. PMID:21527849

  2. Discrimination between leukaemia and non-leukaemia-related chromosomal abnormalities in the patient's lymphocytes

    The inability to measure precancer-related genetic damage accurately in blood cells of patients with leukaemia or lymphoma has prevented the use in such patients of available biodosimetric methods to determine prior exposure to clastogenic agents. This is because a substantial amount of disease-related genetic damage appears in the blood cells of these patients, thus masking genetic damage that may have been caused prior to the disease. We describe a new approach that may be used to measure pre-cancer-related chromosomal aberrations in such patients by totally separating the affected T lymphocytes from the malignant B lymphocytes. The approach employs stable chromosome translocations and will detect prior exposures above the detection limit of ∼ 0.05-0.1 Gy. The utility of this approach is illustrated by using blood lymphocytes from a nuclear dockyard worker who claims his B cell leukaemia was induced by work-related radiation exposures. Blood lymphocytes were obtained after diagnosis of the disease, but prior to therapy, and measurements were made of the frequency of chromosomal abnormalities in PHA-stimulated lymphocytes without prior separation of T and B cells and in T lymphocytes after complete separation from B cells using a rosetting technique. Results show that the separation of T cells prior to PHA stimulation eliminates the cancer-related chromosomal damage and thus appears to facilitate biodosimetry of pre-cancer in such patients. (Author)

  3. X chromosome abnormalities and cognitive development: implications for understanding normal human development.

    Walzer, S

    1985-03-01

    Recent advances in the biological sciences have offered new opportunities to identify biological contributions as they interact with social experience to help determine psychological development. The role of biological factors is more easily demonstrated in subhuman species in which extensive experimental manipulations of variables are possible. One strategy for the study of human behaviour genetics has been the systematic analysis of behaviour in individuals with naturally occurring X chromosome variations. The aim has been to demonstrate whether or not the range of expected variability in particular areas of behavioural development was narrowed by the specific genotypic abnormality. The knowledge obtained from these studies can be applied meaningfully to enhance our understanding about human behavioural development in chromosomally unaffected individuals. PMID:3884639

  4. Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

    Rongen Michel A

    2009-07-01

    Full Text Available Abstract Background Complex chromosomal rearrangements (CCR are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. High resolution genotyping is necessary in order to identify cryptic imbalances, for instance near the multiple breakpoints, to explain the abnormal phenotype in these patients. We applied several molecular techniques to elucidate the complexity of the CCRs of two adult patients with abnormal phenotypes. Results Multicolour fluorescence in situ hybridization (M-FISH showed that in patient 1 the chromosomes 1, 10, 15 and 18 were involved in the rearrangement whereas for patient 2 the chromosomes 5, 9, 11 and 13 were involved. A 250 k Nsp1 SNP-array analysis uncovered a deletion in chromosome region 10p13 for patient 1, harbouring 17 genes, while patient 2 showed no pathogenic gains or losses. Additional FISH analysis with locus specific BAC-probes was performed, leading to the identification of cryptic interstitial structural rearrangements in both patients. Conclusion Application of M-FISH and SNP-array analysis to apparently balanced CCRs is useful to delineate the complex chromosomal rearrangement in detail. However, it does not always identify cryptic imbalances as an explanation for the abnormal phenotype in patients with a CCR.

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

    Kwasny, Dorota; Vedarethinam, Indumathi; Shah, Pranjul;

    2012-01-01

    cytogenetic techniques such as fluorescent in situ hybridization (FISH). To improve FISH application in cytogenetic analysis the issues with long experimental time, high volumes of expensive reagents and requirement for trained technicians need to be addressed. The protocol has recently evolved towards on...... chip detection of chromosome abnormalities with the development of microsystems for FISH analysis. The challenges addressed by the developed microsystems are mainly the automation of the assay performance, reduction in probe volume, as well as reduction of assay time. The recent focus on the...

  6. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

    This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome ...

  7. Chromosome 12p abnormalities and IMP3 expression in prepubertal pure testicular teratomas.

    Cornejo, Kristine M; Cheng, Liang; Church, Alanna; Wang, Mingsheng; Jiang, Zhong

    2016-03-01

    Although the histologic appearance of pure testicular teratomas (PTTs) is similar in children and adults, the prognosis is dramatically different. Prepubertal PTTs are rare, with a benign clinical course, whereas the adult cases typically have malignant outcomes. Chromosome 12p abnormalities are seen in most adult testicular germ cell tumors but have not been found in prepubertal PTTs. IMP3 is an oncofetal protein that is highly expressed in many malignancies. Recently, we demonstrated IMP3 is expressed in adult mature testicular teratomas but not in mature ovarian teratomas. The aim of this study was to evaluate prepubertal PTTs for chromosome 12p abnormalities and expression of IMP3. A total of 11 cases (excision, n=1; orchiectomy, n=10) were obtained from the surgical pathology archives of 2 large medical centers (1957-2013). All 11 cases were investigated for isochromosome 12p and 12p copy number gain using interphase fluorescence in situ hybridization analysis and were examined by immunohistochemistry for IMP3 expression. Patients ranged in age from 0.9 to 7.0 (mean, 2.4) years. A positive immunohistochemical stain for IMP3 (cytoplasmic staining) was identified in 5 (46%) of 11 cases. Isochromosome 12p was detected in 2 cases (18%) that also expressed IMP3. Somatic copy number alterations of 12p were not observed (0%). We are the first to describe 12p abnormalities and IMP3 expression in prepubertal PTTs. Our data demonstrate a small subset of PTTs harbor typical molecular alterations observed in adult testicular germ cell tumors. Although prepubertal PTTs are considered to be benign neoplasms, it may be a heterogeneous group. PMID:26826410

  8. Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

    Kartapradja Hannie

    2011-10-01

    Full Text Available Abstract Background Monosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found. This report is to describe the cytogenetic characteristics of 45,X individuals. To the best of our knowledge, there were no large series of 45,X cases has been reported from Indonesia. Results Ninety five cases with 45,X cell line found, of which 60 were detected by karyotyping, 4 by FISH for sex chromosomes, and 31 by both karyotyping and FISH. Using karyotyping 37 out of 91 cases(40.6% were identified as 45,X individuals, while cases who underwent FISH only 4 out of 35 cases (11.4% showed 45,X result, resulting in total of 39 45,X cases (41.1%, and the rest 56 (58.9% cases are mosaic. Among these cases, 21 out of 95 (22.1% have Y or part of Y as the second or third sex chromosome in their additional cell lines. Result discrepancies revealed in 22 out of 31 cases who underwent both FISH and karyotyping, of which 7 showed normal 46,XX or 46,XY karyotypes, but by FISH, additional monosomy × cell line was found. Most of the cases were referred at the age of puberty (8-13 years old or after that (14-18 years old, 31 and 21 cases respectively, and there were 14 cases were sent in adulthood. Conclusion Wide variations of sex chromosome aberrations have been detected using the combination of conventional cytogenetic and FISH, including detection of low level of mosaicism and Y-chromosome fragments. Result discrepancies using both techniques were found in 22/31 cases, and in order to obtain a more details of sex chromosome constitution of individuals with 45,X cell line both FISH and karyotyping should be carried out simultaneously.

  9. Genetics Home Reference: ring chromosome 20 syndrome

    ... 3 links) Encyclopedia: Chromosome Encyclopedia: Epilepsy Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 20 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  10. Genetics Home Reference: ring chromosome 14 syndrome

    ... Encyclopedia: Chromosome Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 14 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  11. Self-correction of chromosomal abnormalities in human preimplantation embryos and embryonic stem cells.

    Bazrgar, Masood; Gourabi, Hamid; Valojerdi, Mojtaba Rezazadeh; Yazdi, Poopak Eftekhari; Baharvand, Hossein

    2013-09-01

    Aneuploidy is commonly seen in human preimplantation embryos, most particularly at the cleavage stage because of genome activation by third cell division. Aneuploid embryos have been used for the derivation of normal embryonic stem cell (ESC) lines and developmental modeling. This review addresses aneuploidies in human preimplantation embryos and human ESCs and the potential of self-correction of these aberrations. Diploid-aneuploid mosaicism is the most frequent abnormality observed; hence, embryos selected by preimplantation genetic diagnosis at the cleavage or blastocyst stage could be partly abnormal. Differentiation is known as the barrier for eliminating mosaic embryos by death and/or decreased division of abnormal cells. However, some mosaicisms, such as copy number variations could be compatible with live birth. Several reasons have been proposed for self-correction of aneuploidies during later stages of development, including primary misdiagnosis, allocation of the aneuploidy in the trophectoderm, cell growth advantage of diploid cells in mosaic embryos, lagging of aneuploid cell division, extrusion or duplication of an aneuploid chromosome, and the abundance of DNA repair gene products. Although more studies are needed to understand the mechanisms of self-correction as a rare phenomenon, most likely, it is related to overcoming mosaicism. PMID:23557100

  12. 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.

  13. Transcriptional activation by TAL1 and FUS-CHOP proteins expressed in acute malignancies as a result of chromosomal abnormalities.

    Sánchez-García, I; Rabbitts, T H

    1994-01-01

    Proteins that appear to participate in transcriptional control of gene expression are increasingly implicated in leukemias and malignant solid tumors. We report here that the N-terminal domains of the proteins TAL1 (ectopically activated in T-cell acute leukemias after chromosomal abnormalities caused by V-D-J recombinase error) (V, variable; D, diversity; J, joining) and FUS-CHOP (a liposarcoma tumor-specific fusion protein that is produced as a result of a chromosomal translocation) can fun...

  14. 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.

  15. 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.

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

    Tkach I. R.

    2015-02-01

    Full Text Available Aim. The determination of chromosomal abnormalities in samples from early pregnancy losses and allelic polymorphism of HLA–DRB1 and DQA1 genes in couples with recurrent miscarriage. Methods. Banding cytogenetic and interphase mFISH analysis, DNA extraction by salting method, PCR, agarose gel electrophoresis. Results. Cytogenetic and molecular-cytogenetic investigations of SA material identified karyotype anomalies in 32.4 % of cases with prevalence of autosomal trisomy – 42.65 %, triploidy – 30.38 % and monosomy X – 19.11 %. Complex analysis of frequency and distribution of allelic variants of genes HLA-DRB1 and HLA-DQA1 allowed establishing the alleles DRB1*0301, DRB1*1101-1104 and DQA1*0501 to be aggressor alleles in women with recurrent pregnancy loss (RPL. The cumulative homology of allelic polymorphism of more than 50 % of HLA-DRB1 and HLA-DQA1 loci between partners increases the risk of RPL by almost four times. Conclusion. The detected chromosome aneuploidies in the samples from products of conception and the changes in the major histocompatibility complex genes can cause the failure of a couples reproductive function and can lead to an early fetal loss.

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

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

    2012-01-01

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

  18. 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.

  19. Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11)

    Dockery, Heather E; Neale, H C; Fitzgerald, P H

    1982-01-01

    Gross mental and physical abnormality is described in an adult female who had some features similar to those of Ehlers-Danlos syndrome. There was no family history of the disorder. The patient also carried a balanced chromosomal translocation t(9;17)(q34;q11).

  20. Reduction of transgenerational radiation induced genetic damages observed as numerical chromosomal abnormalities in preimplantation embryos by vitamin E

    To study the effects of parental gamma irradiation (4 Gy) of NMRI (Naval Medical Research Institute) mice on the numerical chromosome abnormalities in subsequent preimplantation embryos in the presence of vitamin E (200 IU/kg), super-ovulated irradiated females were mated with irradiated males at weekly intervals in successive 6 weekly periods. About 68 h post coitus, 8-cell embryos were fixed on slides using standard methods in order to screen for abnormalities in chromosome number. In embryos generated by irradiated mice, the frequency of aneuploids dramatically increased compared to control unirradiated groups (p < 0.001), while no significant difference were observed within irradiated groups mated at weekly interval. Administration of vitamin E significantly decreased chromosomal aberrations in all groups (p < 0.05). Data indicate that gamma irradiation affects spermatogenesis and oogenesis and causes DNA alterations that may lead to chromosome abnormalities in subsequent embryos. Vitamin E effectively reduced the frequency of abnormalities. The way vitamin E reduces genotoxic effects of radiation might be via radical scavenging or antioxidative mechanism. (authors)

  1. 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

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the...

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

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

    2014-01-01

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

  3. Serial study of the effect of radiotherapy on semen parameters, hamster egg penetration rates, and lymphocyte chromosome abnormalities

    This study was designed to assess the long-term effects of radiotherapy (RT) on male fertility and the induction of lymphocyte and sperm chromosome abnormalities. This preliminary report provides information on 11 cancer patients (mainly seminomas) treated by RT (testicular dose, 44 to 499 rads). All 11 men were studied pre-RT and at intervals post-RT. The pre-RT semen profile varied considerably, but, in general, the profile was poor with a mean sperm concentration of 19.4 x 106 ml and a mean hamster egg penetration rate of 5%. One month after RT, the sperm concentration decreased and hamster egg penetration was 0% in all men. At 3 and 12 months post-RT, all but two patients were azoospermic. By 24 months post-RT, 9 of 11 patients had regained sperm production and 5 had sperm capable of hamster egg penetration. The three men who have been studied 36 months post-RT had a mean sperm concentration of 45.3 x 106 ml, and all had positive hamster egg penetration tests, although two of the three men had very low penetration rates (2% and 4%). Lymphocyte chromosome analysis demonstrated a striking frequency of chromosome abnormalities post-RT which decreased with time (pre-RT, 0%; 1 month, 42.4%; 3 months, 24.7%; 12 months, 13.8%; 24 months, 11.2%; and 36 months, 10.0%). Thus, it appears that sperm production starts to recover 2 to 3 years after RT when the frequency of lymphocyte chromosome abnormalities has decreased, but the sperm may not be fully functional at this time, as evidenced by poor rates of hamster egg penetration. Future studies of sperm chromosome analysis in these men will determine whether this impairment of the sperm is associated with meiotic chromosome abnormalities

  4. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

    Paththinige, C S; Sirisena, N D; Kariyawasam, U G I U; Saman Kumara, L P C; Dissanayake, V H W

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. PMID:27610251

  5. 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.

  6. The study of chromosomal abnormalities and heteromorphism in couples with 2 or 3 recurrent abortions in Shahid Beheshti Hospital of Hamedan

    Atefeh Asgari; Safieh Ghahremani; Solmaz Saeedi; Ebrahim Kamrani

    2013-01-01

    Background: Different studies show that chromosomal balance translocation in the parents can cause recurrent spontaneous abortions. Incidence of chromosomal translocation abnormalities in couples with repeated abortions is from 0% to 31%. Objective: The purpose of this research was studying the presence or absence of chromosomal abnormalities and heteromorphism in couples with recurrent abortions and also the role of this anomaly in the abortions. Materials and Methods: This study is a cross ...

  7. 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.

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

    Anguiano Arturo

    2012-01-01

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

  9. Variation in the levels of pregnancy-specific beta-1-glycoprotein in maternal serum from chromosomally abnormal pregnancies.

    Graham, G W; Crossley, J A; Aitken, D A; Connor, J M

    1992-06-01

    Human pregnancy-specific beta-1-glycoprotein (SP1) was assayed retrospectively in stored maternal serum (MS) samples from 82 chromosomally abnormal pregnancies and 377 matched controls. The median MSSP1 concentration in 48 Down's syndrome pregnancies was significantly elevated at 1.17 multiples of the control median (MOM), and significantly reduced (0.5 MOM) in a group of eight cases of unbalanced translocations. There was no significant difference in median SP1 concentrations in cases of trisomy 18, trisomy 13, balanced translocations, or sex chromosome abnormalities. A comparison with human chorionic gonadotrophin results in the same series of samples indicates that SP1 is a less sensitive predictor of Down's syndrome pregnancies. PMID:1387478

  10. 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

    Cytogenetic analysis of short-term cultures from 34 benign colorectal polyps, all histologically verified as adenomas, revealed clonal chromosome aberrations in 21 of them. Eight polyps had structural rearrangements, whereas only numerical changes were found in 13. A combination of structural and...... 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 and...... another with a small 1p deletion. In three adenomas, del(1)(p36) was the only cytogenetic aberration, supporting the authors' previous conclusion that loss of one or more gene loci in band 1p36 is a common early change in colorectal tumorigenesis. Chromosome 8 was involved in structural changes in two...

  11. Effect of vitamin E on preovulatory stage irradiated female mouse expressed as chromosomal abnormalities in generated embryos

    The present study has been carried out to investigate the effects of preovulatory stage gamma-irradiation of female mice in the absence or presence of vitamin E on numerical chromosome abnormalities in 8-cell embryos after mating with non- irradiated males. Materials and Methods: The 8-11 weeks adult female NMRl mice were whole body irradiated at preovulatory stage (post PMSG injection and about 12-18 hours before Injecting HCG) with 4 Gy gamma-rays generated from a cobalt-60 source alone or in combination with 200 IU/kg vitamin E, intraperitoneally administered one hour prior to irradiation. Soon after HCG injection super ovulated irradiated females were mated with non-irradiated males. About 68-h post coitus (p.c), 8-cell embryos were flushed from the oviducts of pregnant mice and were fixed on slides using standard methods in order to screen for metaphase spreads and numerical chromosome abnormalities. Results: In control embryos, 8% of metaphase plates were aneuploidy whereas in preovulatory stage irradiated female mice, about 50% of metaphase plates of embryos showed numerical chromosome aberrations (Pnd meiotic division. Reduction of the frequency of chromosome aberrations in the presence of vitamin E is probably due to antioxidant effects of this vitamin, and scavenging free radicals induced by gamma-rays in mice oocytes' environment

  12. Detection of numerical chromosomal abnormalities (chr. 1 and 18) before and after photodynamic therapy of human bladder carcinoma cells in vitro

    Bachor, Ruediger; Reich, Ella D.; Kleinschmidt, Klaus; Hautmann, Richard E.

    1997-12-01

    The application of nonradioactive in situ hybridization with chromosome-specific probes for cytogenetic analysis has increased significantly in recent years. In the field of photodynamic therapy (PDT) the hypothesis is that after PDT the remaining viable malignant cells are potentially metastatic cells. Therefore, we performed in vitro experiments on human bladder carcinoma cells to evaluate numerical chromosomal abnormalities before and after PDT. The possible genotoxic effect of PDT with porphycene (AamTPPn) appears to be small based on criteria such as numerical chromosomal abnormalities for chromosome 1 and 18.

  13. 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...... occurred during the evolution of the two species. Intergenomic introgression was observed in the progenies of the addition lines. The introgression of an entire B. alboglabra marker synteny group into the B. campestris genome implied the possible occurrence of interspecific chromosomal substitution....

  14. Mitotic chromosomal abnormalities in diploid and colchicine-induced tetraploid jute (Corchorus capsularis L.) following gamma-rays treatment

    The purpose of the present study was to detect and explain the various types of chromosomal abnormalities resulting from seed irradiation and to evaluate the frequency of abnormal cells in different doses and thereby establish the relative radiosensitivity between the 2x (2n = 14) and c-4x (2n = 28) (colchicine-induced) Corchorus capsularis. Air-dried seeds of the two ploidy levels were exposed to 60, 70 and 80 KR gamma-rays (60Co) and different stages of the mitotic division of the treated and control root tips were studied. There was no chromosomal abnormality in the untreated root-tip cells of both the types. The aberrations in the irradiated samples included: a) only bridges, b) only laggards and c) both bridges and laggards in the anaphase of root-tip cells of both the ploidy levels, d) much more variation in length of metaphase chromosomes in c-4x capsularis. Plausible causes of the origin and occurrence of the abnormalities have been discussed in the light of the findings of other workers in the field. There was increase in the frequency of abnormal cells with the increase in radiation dose in both the ploidy levels but at a given dose c-4x capsularis produced more aberrations than the 2x diploid. It was concluded that the artificially induced autotetoraploid was more radio-sensitive than the 2x type. This perhaps, was due to the artificial nature of origin of the autotetraploid and its lack of sufficient adaptation to protect itself from radiation effect. (author)

  15. 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.

  16. Identification of FISH biomarkers to detect chromosome abnormalities associated with prostate adenocarcinoma in tumour and field effect environment

    To reduce sampling error associated with cancer detection in prostate needle biopsies, we explored the possibility of using fluorescence in situ hybridisation (FISH) to detect chromosomal abnormalities in the histologically benign prostate tissue from patients with adenocarcinoma of prostate. Tumour specimens from 33 radical prostatectomy (RP) cases, histologically benign tissue from 17 of the 33 RP cases, and 26 benign prostatic hyperplasia (BPH) control cases were evaluated with Locus Specific Identifier (LSI) probes MYC (8q24), LPL (8p21.22), and PTEN (10q23), as well as with centromere enumerator probes CEP8, CEP10, and CEP7. A distribution of FISH signals in the tumour and histologically benign adjacent tissue was compared to that in BPH specimens using receiver operating characteristic curve analysis. The combination of MYC gain, CEP8 Abnormal, PTEN loss or chromosome 7 aneusomy was positive in the tumour area of all of the 33 specimens from patients with adenocarcinomas, and in 88% of adjacent histologically benign regions (15 out of 17) but in only 15% (4 out of 26) of the benign prostatic hyperplasia control specimens. A panel of FISH markers may allow detection of genomic abnormalities that associate with adenocarcinoma in the field adjacent to and surrounding the tumour, and thus could potentially indicate the presence of cancer in the specimen even if the cancer focus itself was missed by biopsy and histology review

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

    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)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.

  18. Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation

    Mohr Brigitte

    2003-01-01

    Full Text Available Abstract Background The analysis of complex cytogenetic databases of distinct leukaemia entities may help to detect rare recurring chromosome aberrations, minimal common regions of gains and losses, and also hot spots of genomic rearrangements. The patterns of the karyotype alterations may provide insights into the genetic pathways of disease progression. Results We developed a simplified computer readable cytogenetic notation (SCCN by which chromosome findings are normalised at a resolution of 400 bands. Lost or gained chromosomes or chromosome segments are specified in detail, and ranges of chromosome breakpoint assignments are recorded. Software modules were written to summarise the recorded chromosome changes with regard to the respective chromosome involvement. To assess the degree of karyotype alterations the ploidy levels and numbers of numerical and structural changes were recorded separately, and summarised in a complex karyotype aberration score (CKAS. The SCCN and CKAS were used to analyse the extend and the spectrum of additional chromosome aberrations in 94 patients with Philadelphia chromosome positive (Ph-positive acute lymphoblastic leukemia (ALL and secondary chromosome anomalies. Dosage changes of chromosomal material represented 92.1% of all additional events. Recurring regions of chromosome losses were identified. Structural rearrangements affecting (pericentromeric chromosome regions were recorded in 24.6% of the cases. Conclusions SCCN and CKAS provide unifying elements between karyotypes and computer processable data formats. They proved to be useful in the investigation of additional chromosome aberrations in Ph-positive ALL, and may represent a step towards full automation of the analysis of large and complex karyotype databases.

  19. Enhancement of aluminum tolerance in wheat by addition of chromosomes from the wild relative Leymus racemosus.

    Mohammed, Yasir Serag Alnor; Eltayeb, Amin Elsadig; Tsujimoto, Hisashi

    2013-12-01

    Aluminum (Al) toxicity is the key factor limiting wheat production in acid soils. Soil liming has been used widely to increase the soil pH, but due to its high cost, breeding tolerant cultivars is more cost-effective mean to mitigate the problem. Tolerant cultivars could be developed by traditional breeding, genetic transformation or introgression of genes from wild relatives. We used 30 wheat alien chromosome addition lines to identify new genetic resources to improve wheat tolerance to Al and to identify the chromosomes harboring the tolerance genes. We evaluated these lines and their wheat background Chinese Spring for Al tolerance in hydroponic culture at various Al concentrations. We also investigated Al uptake, oxidative stress and cell membrane integrity. The L. racemosus chromosomes A and E significantly enhanced the Al tolerance of the wheat in term of relative root growth. At the highest Al concentration tested (200 μM), line E had the greatest tolerance. The introgressed chromosomes did not affect Al uptake of the tolerant lines. We attribute the improved tolerance conferred by chromosome E to improved cell membrane integrity. Chromosome engineering with these two lines could produce Al-tolerant wheat cultivars. PMID:24399913

  20. FDA Approves New Drug for Chronic Lymphocytic Leukemia in Patients with a Specific Chromosomal Abnormality

    ... diagnosed each year. CLL is characterized by the progressive accumulation of abnormal lymphocytes, a type of white ... orphan drug designation, which provides incentives such as tax credits, user fee waivers and eligibility for exclusivity ...

  1. Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs.

    Nakamura, T.(International Center for Elementary Particle Physics and Department of Physics, The University of Tokyo, Tokyo, Japan); Alder, H; Y. Gu; R. Prasad; Canaani, O; Kamada, N; Gale, R P; Lange, B; Crist, W M; Nowell, P C

    1993-01-01

    Chromosome translocations involving band 11q23 are associated with human acute leukemias. These translocations fuse the ALL-1 gene, homolog of Drosophila trithorax and located at chromosome band 11q23, to genes from a variety of chromosomes. We cloned and sequenced cDNAs derived from transcripts of the AF-4 and AF-9 genes involved in the most common chromosome abnormalities, t(4:11)(q21:q23) and t(9:11)(p22:q23), respectively. Sequence analysis indicates high homology between the AF-9 gene pr...

  2. Congenital heart diseases caused by chromosome abnormality%染色体异常致先天性心脏病的研究进展

    李娟

    2013-01-01

    Chromosome abnormality has recently been recognized as an important cause of congenital heart diseases(CHD).The tiny fragment deformity of the chromosome may lead to many abnormal genes expression.Recent studies have disclosed that CHD is a part of syndrome attributed to chromosome abnormality.This article reviews chromosome abnormality caused by trisomy chromosome,chromosome deletions,Tuner syndrome and Kleinfelte's syndrome as well as incidence,type,mechanism and prognosis of its complicated CHD.%染色体异常是先天性心脏病的重要病因之一.目前普遍认为染色体的微小片段畸形可能导致多个基因的表达异常.新近发现先天性心脏病常表现为染色体异常导致一部分临床综合征.该文就三体型染色体异常、染色体缺失、特纳综合征、克兰费尔特综合征等染色体异常合并先天性心脏病的概率、类型、合并的其他畸形、机制及预后等方面的进展进行综述.

  3. Chromosome abnormalities in Down's syndrome patients with acute leukemia

    Kaneko, Y. (Univ. of Chicago, IL); Rowley, J.D.; Variakojis, D; Chilcote, R.R.; Moohr, J.W.; Patel, D.

    1981-09-01

    Chromosome and cytologic studies were performed on three Down's syndrome (DS) patients with acute nonlymphocytic leukemia (ANLL). All three patients had an aneuploid clone in their leukemic cells: 50,XX, +6, +19, +21, +22, 48,XX, +8, +21, and 47,XY, +8, -21, +dic(21;21)(p13;p11). Every patient appeared to have acute undifferentiated leukemia when the blast cells were examined with Wright-Giemsa stain; cytochemistry studies, however, showed that the leukemic blasts were in an early stage of myeloid differentation. The two patients with +8 had a preleukemic phase; the blast cells of the patient with an extra no. 19 and no. 22 could not be differentiated morphologically from those of the two patients with an extra no. 8. Our findings and a review of data on 40 other patients suggest that most DS children with ANLL have hyperdiploidy, which is usually related to gains of C, F, and/or G chromosomes.

  4. Genetic Counseling for Patients Considering Screening and Diagnosis for Chromosomal Abnormalities.

    Chard, Renée L; Norton, Mary E

    2016-06-01

    With the introduction of cell-free DNA screening for fetal aneuploidy and chromosomal microarray for prenatal diagnostic testing, options for pregnant women have become increasingly complex. Discussions regarding options for prenatal testing for aneuploidy should occur prior to any testing and should include pertinent risks and benefits of each alternative test. There is no single screening or diagnostic test option that is the right choice for all patients; patient decisions should be based on each individual woman's values and preferences after a discussion of all options. PMID:27235908

  5. 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.

  6. Chromosomal abnormalities & oxidative stress in women with premature ovarian failure (POF)

    Kumar, Manoj; Pathak, Dhananjay; Venkatesh, Sundararajan; Kriplani, Alka; Ammini, A. C.; Dada, Rima

    2012-01-01

    Background & objectives: Premature ovarian failure (POF) is defined as the cessation of ovarian function under the age of 40 yr and is characterized by amenorrhoea, hypoestrogenism and elevated serum gonadotrophin levels. The cause of POF remains undetermined in majority of the cases. This study was aimed to investigate the type and frequency of cytogenetic abnormalities in patients with idiopathic POF and also to study the role of oxidative stress in such cases. Methods: Seventy five women w...

  7. 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.

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

    Viuff, Mette Hansen; Stochholm, Kirstine; 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......% for all four groups of SCAs. WHAT IS KNOWN ALREADY: The detection rates of SCAs are higher in countries with DS screening. TS is associated with greater nuchal translucency (NT) and lower pregnancy-associated plasma protein-A (PAPP-A). However, specific detection rates of SCAs using prenatal DS...... of accompanying conditions. There is limited information about pre- and perinatal status that distinguishes SCA embryogenesis from normal fetal development. STUDY DESIGN, SIZE, DURATION: A register-based case-control study from the Danish Central Cytogenetic Register (DCCR), cross-linked with the...

  9. Use of a 10,600-nm CO2 Laser Mandibular Vestibular Extension in a Patient With a Chromosomal Abnormality.

    Levine, Robert; Vitruk, Peter

    2016-09-01

    Vestibuloplasty involves a series of surgical procedures designed to restore alveolar ridge height by lowering the muscles attached to the buccal, labial, and lingual aspects of the jaws. The technique is indicated in cases of insufficient vestibular depth that may result from atrophy of the alveolar ridge and/or high attachment of muscle or movable mucosa. This article focuses on a carbon dioxide (CO2) laser vestibular extension procedure performed in a patient with Klinefelter syndrome, which is caused by a chromosomal abnormality. The 10,600-nm CO2 laser is shown to offer several advantages over a conventional scalpel and other laser wavelengths for soft-tissue pre-prosthetic surgery, including vestibular extension. PMID:27608196

  10. Abnormal grain growth of Zr-1wt.%Nb alloy and the effect of Mo addition

    Increasingly harsh operation conditions of water reactors, such as high burn-up fuel cycles, demand improved Zr-based alloys for the reactor core applications. Enhanced corrosion resistance, better than that of Zircaloy-4, was realized in the newly developed Zr-based alloys containing Nb and Sn. Zr-Nb alloy was developed for pressure tubes of heavy water reactors while Zr-Nb-Si alloys such as ZIRLO and E635 alloys are currently under evaluation as candidate materials for advanced fuel claddings. In the Zr-based alloys containing Nb, generally a fine grain structure is maintained due to the presence of a small amount of retained β. There is a good possibility, therefore, of abnormal grain growth provided that the role of β phase is consistent. Addition of Mo in Zr-Nb alloy, in this respect, is expected to bring about a crucial effect on stabilizing the microstructure. The present work addresses the problem of abnormal grain growth in Zr-Nb system and presents a possible way of curing it by addition of Mo

  11. 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.

  12. Effects of trypsin on X-ray-induced cell killing, chromosome abnormalities and kinetics of DNA repair in mammalian cells

    When cells are trypsinized before irradiation a potentiation of X-ray damage may occur. This is known as the 'trypsin effect'. Potentiation of X-ray damage on cell killing was seen in V79 Chinese hamster cells but was marginal in Chinese hamster ovary (CHO K1) cells and not evident in murine Ehrlich ascites tumour (EAT) cells. Trypsinization did however increase the number of X-ray-induced chromosomal abnormalities in all 3 lines. To investigate the possibility that trypsin acts by digestion of proteins in chromatin, further experiments were performed to monitor DNA damage and repair. Induction of DNA breaks by X-rays was unaffected by trypsin but trypsinized EAT (suspension) cells repaired single-strand breaks (sbb) less rapidly than controls indicating an inhibitory effect or trypsin on ssb repair. However double-strand break (dsb) repair was unaffected by trypsin. It was also found that the EDTA solution in which the trypsin was dissolved also contributes to the inhibition of dsb repair. The results show that trypsinization can enhance X-ray-induced cell killing, chromosomal damage and DNA repair, the effect varying between cell lines. (author). 37 refs.; 7 figs

  13. 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.

  14. Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities

    Suzuki Hiroetsu

    2009-09-01

    Full Text Available Abstract Background Koala (Koa is a dominant mutation in mice causing bushy muzzle and pinna, and is associated with a chromosomal inversion on the distal half of chromosome 15. To identify the gene responsible for the Koa phenotypes, we investigated phenotypes of Koa homozygous mice and determined the breakpoints of the inversion with a genetic method using recombination between two different chromosomal inversions. Results Skeletal preparation of Koa homozygotes showed marked deformity of the ribs and a wider skull with extended zygomatic arches, in addition to a general reduction in the lengths of long bones. They also had open eyelids at birth caused by a defect in the extension of eyelid anlagen during the embryonic stages. The proximal and distal breakpoints of the Koa inversion were determined to be 0.8-Mb distal to the Trsps1 gene and to 0.1-Mb distal to the Hoxc4 gene, respectively, as previously reported. The phenotypes of mice with the recombinant inverted chromosomes revealed the localization of the gene responsible the Koa phenotype in the vicinity of the proximal recombinant breakpoint. Expression of the Trsps1 gene in this region was significantly reduced in the Koa homozygous and heterozygous embryos. Conclusion While no gene was disrupted by the chromosomal inversion, an association between the Koa phenotype and the proximal recombinant breakpoint, phenotypic similarities with Trps1-deficient mice or human patients with TRSP1 mutations, and the reduced expression of the Trsps1 gene in Koa mice, indicated that the phenotypes of the Koa mice are caused by the altered expression of the Trps1 gene.

  15. Enhancement of aluminum tolerance in wheat by addition of chromosomes from the wild relative Leymus racemosus

    Mohammed, Yasir Serag Alnor; Eltayeb, Amin Elsadig; Tsujimoto, Hisashi

    2013-01-01

    Aluminum (Al) toxicity is the key factor limiting wheat production in acid soils. Soil liming has been used widely to increase the soil pH, but due to its high cost, breeding tolerant cultivars is more cost-effective mean to mitigate the problem. Tolerant cultivars could be developed by traditional breeding, genetic transformation or introgression of genes from wild relatives. We used 30 wheat alien chromosome addition lines to identify new genetic resources to improve wheat tolerance to Al a...

  16. A locus identified on chromosome18p11.31 is associated with hippocampal abnormalities in a family with mesial temporal lobe epilepsy

    IsciaLopes-Cendes

    2012-08-01

    Full Text Available We aimed to identify the region harboring a putative candidate gene associated with hippocampal abnormalities (HAb in a family with mesial temporal lobe epilepsy (MTLE. Genome-wide scan was performed in one large kindred with MTLE using a total of 332 microsatellite markers at ~12cM intervals. An additional 13 markers were genotyped in the candidate region. Phenotypic classes were defined according to the presence of hippocampal atrophy and/or hyperintense hippocampal T2 signal detected on magnetic resonance imaging. We identified a significant positive LOD score on chromosome 18p11.31 with a Zmax of 3.12 at D18S452. Multipoint LOD scores and haplotype analyses localized the candidate locus within a 6cM interval flanked by D18S976 and D18S967. We present here evidence that HAb, which were previously related mainly to environmental risk factors, may be influenced by genetic predisposition. This finding may have major impact in the study of the mechanisms underlying abnormalities in mesial temporal lobe structures and their relationship with MTLE.

  17. Surface antigen expression in chronic lymphocytic leukemia: clustering analysis, interrelationships and effects of chromosomal abnormalities.

    Hulkkonen, J; Vilpo, L; Hurme, M; Vilpo, J

    2002-02-01

    Chronic lymphocytic leukemia (CLL) is a phenotypically distinguishable form of B-lymphoid leukemias. The regularity of surface membrane antigen expression patterns, their interrelationships as well as the effects of the three frequent chromosomal aberrations, ie 11q deletion, 13q deletion and trisomy 12, were investigated in 35 classic CLL cases by flow cytometry. The two-way cluster analysis of 31 individual antigens revealed three expression patterns: (1) most cells in most cases positive (CD5, CD19, CD20, CD23, CD27, CD40, CD45, CD45RA); (2) most cells in most cases negative (CD10, CD14, CD34, CD122, CD154, mIgG); and (3) a mixed pattern with a variable number of positive cases and a variable percentage of positive cells in individual cases (CD11c, CD21, CD22, CD25, CD38, CD45RO, CD79b, CD80, CD95, CD124, CD126, CD130, FMC7, mIgD, mIgkappa, mIglambda, mIgM). The expressions of several antigens were strongly interdependent, even when antigens belonged to entirely different gene families. Such antigen pairs were: CD11c/CD21; CD19/CD45; CD19/CD79b; CD22/CD45RA; CD23/Igkappa; CD25/mIgM; CD27/CD45; CD45/CD79b; CD45RA/Igkappa. In contrast, the expression of some antigens was mutually exclusive, the best examples being CD45RA/CD45RO, CD38/CD80 and CD45RA/CD80. Deletion of chromosome arm 11q attenuated expression of splicing variant CD45RA, but enhanced CD45RO expression. In contrast, cases of trisomy 12 were associated with enhanced CD45RA and attenuated CD45RO expression. Similarly, trisomy 12 was associated with enhanced CD27 and mIgkappa expression. The variable levels of signaling surface membrane antigens, their interactions and interference by genetic aberrations are likely to affect the clinical progression and drug response of CLL. PMID:11840283

  18. Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.

    Sheth, Frenny J; Datar, Chaitanya; Andrieux, Joris; Pandit, Anand; Nayak, Darshana; Rahman, Mizanur; Sheth, Jayesh J

    2014-01-01

    Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Array comparative genomic hybridization (aCGH) analysis confirmed partial deletion of 11.8-11.9 Mb at 11q24.1q25 (case 1) and 13.9-14 Mb deletion at 11q23.3q25 together with 7.3-7.6 Mb duplication at 12q24.32q24.33 (case 2). Dysmorphism because of the partial duplication of 12q was not overtly decipherable over the Jacobsen phenotype except for a triangular facial profile. Aberrant chromosome 11 was inherited from phenotypically normal father, carrier of balanced translocation 46,XY,t(11;12)(q23.3; q24.32). In the present study, both cases had phenotypes that were milder than the ones described in literature despite having large deletion size. Most prominent features in classical JBS is thrombocytopenia, which was absent in both these cases. Therefore, detailed functional analysis of terminal 11q region is warranted to elucidate etiology of JBS and their clinical presentation. PMID:25288895

  19. 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...

  20. Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.

    Northrop, Emma L; Ren, Hua; Bruno, Damien L; McGhie, James D R; Coffa, Jordi; Schouten, Jan; Choo, K H Andy; Slater, Howard R

    2005-11-01

    The need to detect clinically significant segmental aneuploidies beyond the range of light microscopy demands the development of new cost-efficient, sensitive, and robust analytical techniques. Multiplex ligation-dependent probe amplification (MLPA) has already been shown to be particularly effective and flexible for measuring copy numbers in a multiplex format. Previous attempts to develop a reliable MLPA to assay all chromosome subtelomeric regions have been confounded by unforeseen copy number variation in some genes that are very close to the telomeres in healthy individuals. We addressed this shortcoming by substituting all known polymorphic probes and using two complementary multiplex assays to minimize the likelihood of false results. We developed this new quantitative MLPA strategy for two important diagnostic applications. First, in a group of cases with high clinical suspicion of a chromosome abnormality but normal, high-resolution karyotypes, MLPA detected subtelomeric abnormalities in three patients. Two were de novo terminal deletions (del(4p) and del(1p)), and one was a derivative chromosome 1 from a maternal t(1p;17p). The range of these segmental aneuploidies was 1.8-6.6 Mb, and none were visible on retrospective microscopy. Second, in a group of six patients with apparently de novo single-chromosome abnormalities containing anonymous chromatin, MLPA identified two cases with simple intrachromosomal duplications: dup(6p) and dup(8q). Three cases showed derivative chromosomes from translocations involving the distal regions of 9q and 4q, 5p and 11q, and 6q and 3p. One case showed a nonreciprocal, interchromosomal translocation of the distal region of 10p-7p. All abnormalities in both groups were confirmed by fluorescence in situ hybridization (FISH) using bacterial artificial chromosomes (BACs). This quantitative MLPA technique for subtelomeric assays is compared with previously described alternative techniques. PMID:16170807

  1. 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.

  2. 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.

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

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

    2013-11-26

    In this work 13 populations of the leafhopper species Alebra albostriella (Fallén, 1826) (6 populations) and A. wahlbergi (Boheman, 1845) (7 populations) (Cicadellidae: Typhlocybinae) from Greece were studied cytogenetically. We examined chromosomal complements and meiosis in 41 males of A. albostriella sampled from Castanea sativa, Fagus sylvatica and Quercus cerris and in 21 males of A. wahlbergi sampled from C. sativa, Acer opalus and Ulmus sp. The species were shown to share 2n = 22 + X(0) and male meiosis of the chiasmate preductional type typical for Auchenorrhyncha. In all populations of A. albostriella and in all but two populations of A. wahlbergi B chromosomes and/or different meiotic abnormalities including the end-to-end non-homologous chromosomal associations, translocation chains, univalents, anaphasic laggards besides aberrant sperms were encountered. This study represents the first chromosomal record for the genus Alebra and one of the few population-cytogenetic studies in the Auchenorrhyncha. PMID:24455103

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

    Sureshkumar Raveendran

    2014-01-01

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

  5. LIN-41 inactivation leads to delayed centrosome elimination and abnormal chromosome behavior during female meiosis in Caenorhabditis elegans.

    Matsuura, Rieko; Ashikawa, Tomoko; Nozaki, Yuka; Kitagawa, Daiju

    2016-03-01

    During oogenesis, two successive meiotic cell divisions occur without functional centrosomes because of the inactivation and subsequent elimination of maternal centrosomes during the diplotene stage of meiosis I. Despite being a conserved phenomenon in most metazoans, the means by which this centrosome behavior is controlled during female meiosis remain elusive. Here, we conducted a targeted RNAi screening in the Caenorhabditis elegans gonad to identify novel regulators of centrosome behavior during oogenesis. We screened 513 genes known to be essential for embryo production and directly visualized GFP-γ-tubulin to monitor centrosome behavior at all stages of oogenesis. In the screening, we found that RNAi-mediated inactivation of 33 genes delayed the elimination of GFP-γ-tubulin at centrosomes during oogenesis, whereas inactivation of nine genes accelerated the process. Depletion of the TRIM-NHL protein LIN-41 led to a significant delay in centrosome elimination and to the separation and reactivation of centrosomes during oogenesis. Upon LIN-41 depletion, meiotic chromosomes were abnormally condensed and pulled toward one of the two spindle poles around late pachytene even though the spindle microtubules emanated from both centrosomes. Overall, our work provides new insights into the regulation of centrosome behavior to ensure critical meiotic events and the generation of intact oocytes. PMID:26764090

  6. Photosensitivity and Acute Liver Insufficiency in Late-Onset Erythropoietic Protoporphyria with a Chromosome 18q Abnormality

    Yuka Oshikawa

    2012-07-01

    Full Text Available Late-onset erythropoietic protoporphyria (EPP is rare, and it is usually associated with an acquired somatic mutation of the ferrochelatase gene secondary to hematological malignancy such as myelodysplastic syndrome or myeloproliferative disorder. In 0.5–1% of patients with EPP, deposition of protoporphyrin in the liver leads to progressive liver insufficiency. Herein, we report the case of a 67-year-old female who developed EPP with typical photosensitivity and hemolytic anemia. Six months later, she was admitted with acute liver damage with a rapidly progressing course, and developed liver insufficiency. She recovered from the liver insufficiency after undergoing plasmapheresis and red blood cell exchange transfusion. A bone marrow examination revealed normal features; however, a cytogenetic analysis identified an abnormal clone of cells with a translocation between chromosomes 13q12 and 18q21.1. This is the first report of a patient who recovered from liver insufficiency. The results of this report suggest that plasmapheresis and red blood cell exchange transfusion are effective for treating liver insufficiency in patients with late-onset EPP.

  7. 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

  8. 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.

  9. 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.

  10. Down's/Turner's mosaicism. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality.

    MacFaul, R; Turner, T.; Mason, M. K.

    1981-01-01

    Two babies with Down's/Turner's mosaic karyotype are reported. In each, because of advanced maternal age, chromosomal analysis had been carried out on the fluid obtained by amniocentesis in early pregnancy. Only the 46,X+ 21 cell line grew in the specimens and the extra 21 chromosome was wrongly identified as a Y chromosome, so that the fetus was thought to have a normal male karyotype, 46,XY. At birth both babies were phenotypically female with features predominantly of Down's syndrome and t...

  11. 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

  12. 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'.

  13. 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

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

    Hague, A; Hanlon, K; Paraskeva, C

    1992-07-01

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

  15. Species and Tissue Differences Affecting the Relative Efficiency of Neutrons and X-Rays in Producing Chromosome Abnormalities

    Chromosomes of both plants and animals gave 1-hit survival curves when irradiated at various intervals during the nuclear interphase by either X-rays (220 kV) or neutrons (16 MeV). The RBE was taken as the ratio of the slope of the survival curve on exposure to neutrons at a given time after irradiation to that for X-ray sat the same time. The time intervals studied were 3,8,12, 18 and 24 h after irradiation. The 3-h interval gave data for chromosomes which were at the end of the interphase and the 24-h interval gave data for chromosomes at the onset of the interphase. At the end of the inter- phase the RBE was a constant for all species studied (five plant, two mammal) and had the value 2.5. In one plant species where RBE was obtained for meiosis at pachytene as well as mitosis at the end of the interphase, it had the same value in both. The constancy of the RBE for mitotic chromosomes in diverse species at the end of the interphase and for meiotic chromosomes at pachytene indicates a uniform condition in all of these chromosomes with respect to ionizing radiation. At the other stages in the mitotic interphase, the RBE varied by as much as 260%. The pattern of RBE variation obtained for a lymphoma of the rat was similar to the pattern for a lymphoma in the mouse and did not resemble the pattern for a carcinoma in the rat. It follows that the chromosomes in these two types of cells in the rat were physiologically different with respect to radiation reponse even though they might be identical genetically. The V. faba root tip gave RBE patterns different from those obtained with any of the mammalian tissues. The factors mentioned above must be taken into account in an evaluation of the relative effects of neutrons on chromosomes. To the extent that survival of cells and organisms is determined by the continued operation of a normal chromosome complement, the RBE for survival will also be dependent upon these factors. (author)

  16. 573例不良孕产夫妇染色体异常病例与对照组研究%A case - control study on chromosome for couples with abnormal pregnancy

    张清健; 蔡慧娜; 方俊宇; 朱志勇; 郑立新; 田佩玲; 叶嘉玲; 杨卫; 王柏贤; 徐珊珊; 周冰燚; 赵文忠

    2012-01-01

    Objective: To discuss the genetic effect of the chromosomal abnormality and chromosomal polymorphism on abnormal pregnancy. Methods; karyotype analysis and statistical treatment were conducted on 573 couples with abnormal pregnancy and 449 cases of infertile couples. Results: There were no statistical difference in the occurrence rates of balanced translocation, robertsonian translocation, inversion, mosaic and inv(9) between couples with abnormal pregnancy and infertile couples. But there were statistical difference in the occurrence rates of chromosome abnormal in number and Yqh + between two groups. Conclusion: Abnormal chromosomes in number is not one of the main reasons to cause abnormal pregnancy, but abnormal chromosomes in structure. Yqh + can cause abnormal pregnancy in the carriers, but inv(9) can not cause abnormal pregnancy in the carriers.%目的 探讨不良孕产中染色体异常和多态的遗传学效应.方法 对573对不良孕产夫妇与同期449对非不良孕产不孕夫妇进行染色体核型分析和统计学处理.结果 染色体数目异常和Yqh+在不良孕产夫妇组与非不良孕产不孕夫妇组的发生率有统计学差异;而染色体平衡易位、罗氏易位、倒位、嵌合体以及染色体inv(9)多态在两组的发生率无统计学差异.结论 染色体结构异常而非数量异常是导致不良孕产的重要原因之一,染色体多态中Yqh+也可导致不良孕产,而inv (9)不会导致不良孕产.

  17. Additional foraging elements reduce abnormal behaviour – fur-chewing and stereotypic behaviour – in farmed mink (Neovison vison)

    Malmkvist, Jens; Palme, Rupert; Svendsen, Pernille Maj;

    2013-01-01

    We investigated whether provision of additional appetitive and consummatory elements of foraging reduces baseline stress and abnormal behaviour – in terms of fur-chewing and stereotypic behaviour – in farmed mink. We studied 200 juveniles (n = 100 females and 100 males) during the 5-month growth......; (iii) CONS, chunky feed (parts up to 42 mm), replacing conventional feed; (iv) BOTH, access to both biting ropes and chunky feed. In growing mink, biting ropes reduced fur-chewing (P = 0.044) and chunky feed reduced stereotypic behaviour (P = 0.038) and fur-chewing in female mink (P = 0.019). During......, stereotypic behaviour was reduced by provision of chunky feed, increasing the consummatory element in daily foraging. Fur-chewing was reduced upon access to either biting ropes or chunky feed in female mink throughout the study. Our findings support frustrated foraging, mainly consummatory, behind abnormal...

  18. 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.

  19. 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

  20. Seedling tolerance to Rhizoctonia and Pythium in wheat chromosome group 4 addition lines from Thinopyrum spp

    Chromosome 4 from Thinopyrum spp. confers regrowth after a sexual cycle and senescence in hexaploid wheat (Triticum aestivum), and is associated with resistance to the necrotrophic eyespot pathogen, Tapesia yallundae. We sought to determine whether robust root growth or other traits expressed in ch...

  1. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

    Manning, Melanie; Hudgins, Louanne

    2010-01-01

    Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient’s genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for...

  2. Additional genetic abnormalities significantly worsen poor prognosis associated with 1q21 amplification in multiple myeloma patients.

    Grzasko, Norbert; Hus, Marek; Pluta, Andrzej; Jurczyszyn, Artur; Walter-Croneck, Adam; Morawska, Marta; Chocholska, Sylwia; Hajek, Roman; Dmoszynska, Anna

    2013-03-01

    We investigated the prognostic value of amp(1q21) alone and in combination with other abnormalities in newly diagnosed myeloma patients. The study group consisted of 104 patients treated with various induction regimens, mostly thalidomide based (87 patients). Amp(1q21) was detected in 49 (47.1%) of patients; in 26 (25.0%) cases, it was combined with del(13q14), in 7 (6.7%) with del(17p13) and in 15 (14.4%) with t(4;14)(p16;q32). The response rate was significantly better in amp(1q21)-negative than in amp(1q21)-positive patients (74.5% vs 55.1%, p = 0.025; complete response 18.2% vs 4.1%, p = 0.024). The median progression-free survival (PFS) was 33.9 months in patients without amp(1q21) and 10.3 months with this aberration (p = 0.002). The presence of additional abnormalities resulted in significantly shortened PFS when compared with patients with isolated amp(1q21): coexisting del(13q14) resulted in 7.8 vs 29.0 months of PFS (p = 0.024) and del(17p13) resulted in 4.0 vs 24.9 months of PFS (p = 0.034). The presence of amp(1q21) significantly influenced overall survival (OS) as well as PFS resulting in the median OS of 26.6 vs 62.4 months (p = 0.018) in patients without amp(1q21). The presence of additional genetic abnormalities significantly affected OS when compared with patients carrying isolated amp(1q21): for del(13q14) 18.9 vs 58.4 months (p = 0.004) and for del(17p13) 12.0 vs 46.5 months (p = 0.036). On multivariate analysis amp(1q21), del(13q14) and del(17p13) were found to be an independent adverse predictors of shorter PFS and OS. Our results showed that the presence of amp(1q21) was associated with poor prognosis. Moreover additional genetic abnormalities made PFS and OS further shortened. PMID:22674819

  3. 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.

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

    Carvalho, Pinto-Silva; Catia, R.; Moukha, Serge; Matias, William G.; Creppy, Edmond E.

    2006-01-01

    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 chromo...

  5. 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...... hybridization for del(5q31). DESIGN AND METHODS: Twenty-eight patients at diagnosis or with relapsed disease and not eligible for standard therapy (16 with acute myeloid leukemia, 12 with intermediate-risk 2 or high-risk myelodysplastic syndrome) were enrolled in this prospective phase II multicenter trial and...... 16 weeks of trial responded to treatment. Using the International Working Group criteria for acute myeloid leukemia and myelodysplastic syndrome the overall response rate in treated patients with acute myeloid leukemia was 20% (3/15), while that for patients with myelodysplastic syndrome was 36% (4...

  6. Chromosome 17 abnormalities and mutation of the TP53 gene: correlation between cytogenetics, flow cytometry and molecular analysis in three cases of chronic myeloid leukemia

    Luize Otero

    2005-03-01

    Full Text Available chronic myeloid leukemia (CML have been described. This chromosomal region contains the tumor suppressor gene TP53 that may be an important factor in the evolution of this disease. In this study, we used flow cytometry and western blotting to assess p53 protein expression and single stranded conformational polymorphism to examine TP53 gene alterations in three patients with CML who showed alterations in 17p. Only the case with del(17(p11 had p53 expression positive by flow cytometry and an abnormal migration pattern by SSCP analysis. The importance of the correlation between the results obtained with these techniques, as well as the clinical course of the patients, are discussed.

  7. Missed abortion caused by fetal chromosome abnormalities or developmental defects and its management%胚胎发育异常所致流产及管理

    赵晓曦

    2011-01-01

    自然流产是产科常见病之一,但在目前的技术条件下,自然流产的原因常常难以被发现,胚胎发育异常是造成流产的重要原因之一,对胚胎的外观畸形,染色体核型异常进行诊断和评估是寻找自然流产原因的重要途径,而辅助生殖技术的应用对于发现胚胎染色体异常及减少流产有一定的作用.%Missed abortion is a common obstetric disease, but under current technical conditions, causes of missed abortion are difficult to be found out. Developmental disorders of embryo is one of important cause of missed abortion. Diagnosing and evaluating structural malformations and chromosomal aberrations are important approches to find out the causes of missed abortion. And, application of assisted reproductive technique(ART) in recent years is helpful for identifying chromosome abnormalities of the embryo before implantation and avoiding incidence of missed abortion.

  8. Unique double de novo structural rearrangements for chromosome 11 with 46,XX,del(11)(q13q23)/46,XX,inv dup(11)(q13q23) in an infant with minor congenital abnormalities and delayed development

    Tharapel, A.T.; Zhao, J.; Smith, M.E. [Univ. of Tennessee, Memphis, TN (United States)] [and others

    1994-09-01

    Reported here is a patient with two most unusual structural rearrangements, both involving chromosome 11. The first cell line showed an interstitial deletion of a chromosome 11 with a 46,XX,del(11)(q13q23) chromosome complement. In the second cell line, one of the chromosome 11s had a duplication for the exact region, (11)(q13q23), that was deleted in the first cell line. This duplication also appeared to be inverted with karyotype 46,XX,inv dup(11)(q13q23). Interestingly, chromosome analysis did not reveal a normal cell line and the two abnormal cell lines were present in a 1:1 ratio. Parental chromosome analyses showed normal karyotypes. The patient was referred for genetic evaluation because of developmental delay. Minor congenital anomalies presented on physical examination included: weight and height at or below the 5th percentile, microcephaly, downward slanting palpebral fissures, severe clinodactyly of one toe, bilateral short fifth fingers and a broad based gait. Results of the MRI and urine metabolic screen were normal. Two hypotheses are advanced to explain the origin of the abnormality. It is most likely that the abnormality arose as a postzygotic event at the very early zygotic division. During the first DNA synthesis after fertilization and before the zygotic division, DNA synthesis errors could result in two chromatids, one with a deletion and the other with a duplication. It is also possible that after the DNA synthesis prior to the first cell division, the chromatids of the same chromosome 11 for unknown reasons were involved in uneven double somatic crossing over events resulting in deleted and duplicated chromatids, respectively. The 1:1 cell ratio found in the patient and the apparent non-existence of a normal cell line further suggest that the origin of the abnormality was post-zygotic.

  9. Analysis of clinical outcomes for prenatal diagnosis of occurrence of chromosomal abnormalities for new babies%产前诊断中胎儿新发生染色体异常的临床结局分析

    郭化山; 陈曼萍; 吴来春

    2012-01-01

    OBJECTIVE To analyze the clinical outcomes for prenatal diagnosis of occurrence of chromosomal abnormalities for new babies. METHODS 6 cases of chromosomal abnormalities were found in the 1 346 cases of prenatal diagnosis of chromosomal karyotype from January 2007 to December 2009. Observed the cytogenetic result of fetal chromosomal abnormalities, prenatal ultrasound findings and pregnancy outcome were taken for analysis in the 6 new cases. RESULTS There were 4 cases with unbalanced sex chromosome abnormalities, accounting for 66.7%. There were 2 cases of balanced chromosomal abnormalities, accounting for 33.3%. There were 2 cases of terminal pregnancy through induced abortion in the 4 cases of unbalanced chromosome abnormalities, among whom 1 case of term delivery, 1 case of losing follow-up, the former was found with delayed development in language. 2 cases of balanced chromosomal abnormalities had term delivery, in follow-up after birth, there were no abnormalities. CONCLUSION The fetal phenotype of new chromosomal abnormalities can be predicted by analysis of detailed karyorype and further molecular cytogenetic detection of chromosome composition provided by the structural abnormalities. The prenatal ultrasound examination can provide a strong reference basis for the assessment of pregnancy outcomes.%目的 分析产前诊断中胎儿新发生染色体异常的临床结局.方法 对某院1997年1月-2009年12月1346例产前诊断细胞染色体核型分析发现的6例新发生的胎儿染色体异常病例进行分析,观察6例新发生的胎儿染色体异常病例的细胞遗传学检测结果、产前超声检查结果及妊娠结局.结果 6例新发生染色体异常的胎儿中,非平衡性染色体异常4例,占66.7%:2例平衡性染色体异常,占33.3%;4例非平衡染色体异常的胎儿中有2例选择引产终止妊娠,有1例足月分娩,1例出生后失访.足月分娩者随访至2周岁发现语言功能发育迟缓.2例平衡性染

  10. 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.

  11. 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

  12. Rastreio para anomalias cromossômicas no primeiro trimestre da gestação First-trimester screening for chromosomal abnormalities

    Kipros Herodotou Nicolaides

    2007-12-01

    Full Text Available Um efetivo rastreio para anomalias cromossômicas pode ser realizado no primeiro trimestre da gestação. A associação entre a transluscência nucal (TN e as concentrações séricas maternas da fração beta-livre da gonadotrofina coriônica humana e da proteína plasmática-A associada à gestação pode identificar 90% dos fetos com trissomia do cromossomo 21 e outras anomalias cromossômicas, com uma taxa de falso-positivo de 5%. Esses números são superiores aos obtidos pelo rastreio utilizando-se apenas a idade materna (30% ou o rastreio bioquímico materno, no segundo trimestre da gestação (65%. Um rastreio mais eficaz, no primeiro trimestre, pode ser atingido por meio de uma avaliação ecográfica em dois tempos, dividindo-se as pacientes em grupos de alto, intermediário e baixo risco. No grupo de alto risco, o diagnóstico invasivo estaria indicado, ao contrário do grupo de baixo risco, no qual a presença de uma anomalia seria pouco provável. No grupo de risco intermediário (risco de 1 em 101 a 1 em 1.000, seria oferecida uma segunda avaliação ecográfica, para posicionar a paciente no grupo de alto ou baixo risco (presença/ausência do osso nasal ou presença/ausência da regurgitação tricúspide ou presença/ausência de alteração do fluxo sangüíneo no ducto venoso. A biópsia de vilo corial estaria indicada quando, após a realização da segunda abordagem, o risco ajustado da paciente se tornasse maior ou igual a 1 em 100. Essa segunda abordagem ecográfica deveria ser realizada por pessoal treinado, e os seus resultados deveriam ser constantemente avaliados, como um controle de qualidade. Esse processo foi estabelecido pela Fetal Medicine Foudation e aceito internacionalmente.Screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free human chorionic gonadotropin and pregnancy-associated plasma

  13. Use of cross-species in-situ hybridization (ZOO-FISH) to assess chromosome abnormalities in day-6 in-vivo- or in-vitro-produced sheep embryos.

    Coppola, Gianfranco; Alexander, Basil; Di Berardino, Dino; St John, Elizabeth; Basrur, Parvathi K; King, W Allan

    2007-01-01

    Causes of chromosomal differences such as mosaicism between embryos developed in vivo and in vitro may be resolved using animal models to compare embryos generated in vivo with those generated by different production systems. The aims of this study were: (1) to test a ZOO-FISH approach (using bovine painting probes) to detect abnormal chromosome make-up in the sheep embryo model, and (2) to examine the extent of chromosome deviation in sheep embryos derived in vivo and in vitro. Cytogenetic analysis was performed on day 6 in-vivo and in-vitro derived sheep embryos using commercially available bovine chromosome painting probes for sex chromosomes X-Y and autosomes 1-29. A total of 8631 interphase and metaphase nuclei were analyzed from 49 in-vitro-derived and 51 in-vivo-derived embryos. The extent of deviation from normal ovine chromosome make-up was higher (p ZOO-FISH to domestic animal embryos is an effective approach to study the chromosome complement of species for which DNA probes are unavailable. PMID:17429747

  14. Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation

    Mohr Brigitte; Jauch Anna; Heinze Barbara; Fonatsch Christa; Balz Harald; Bradtke Jutta; Schoch Claudia; Rieder Harald

    2003-01-01

    Abstract Background The analysis of complex cytogenetic databases of distinct leukaemia entities may help to detect rare recurring chromosome aberrations, minimal common regions of gains and losses, and also hot spots of genomic rearrangements. The patterns of the karyotype alterations may provide insights into the genetic pathways of disease progression. Results We developed a simplified computer readable cytogenetic notation (SCCN) by which chromosome findings are normalised at a resolution...

  15. Clinical Analysis of the Relationship between Balanced Chromosomal Translocation and Abnormal Pregnancy%染色体平衡易位携带者引起不良孕育的临床分析

    沈红霞; 尹坤

    2015-01-01

    目的:通过对2450例有自然流产、死胎、畸胎、少精等不良孕育史的患者的染色体结果调查,探讨平衡易位与不良孕育史的关系。方法:取外周血进行淋巴细胞培养,染色体G显带分析。结果:2450例患者中检出染色体平衡易位22例(罗伯逊易位3例),占0.90%。患者表现为自然流产、死胎、畸形儿、少精等不良孕育史。结论:染色体平衡易位是导致患者不良孕育史的重要原因之一。对这类人群进行遗传优生和产前诊断及辅助生殖指导等有针对性的检查和临床干预是非常必要的。%Objective: To investigate 2 450 patients' chromosomes with a history of abnormal pregnancy such as spontaneous abortion, fetal death, teratism, and oligospermia and to explore the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods:Chromosomal analysis was made by peripheral lymphocytes culture and G-banding. Results:22 cases of balanced translocation were discovered(3 cases of robertsonian translocation)accounting for 0.90%. Spontaneous abortion, fetal death, teratism, and oligospermia were main manifestations of abnormal pregnancy. Conclusion:Balanced chromosomal translocation was a major reason for abnormal pregnancy. Examination of heredity and prepotency, prenatal diagnosis, guidance on assisted production were necessary for balanced chromosomal translocation carriers.

  16. Addition of Manas barley chromosome arms to the hexaploid wheat genome

    Türkösi, Edina; Cseh, András; Darkó, Éva; Molnár-Láng, Márta

    2016-01-01

    Background Cultivated barley belongs to the tertiary genepool of hexaploid wheat. Genes of interest can be transferred from barley into wheat through wide hybridization. The application of wheat-barley introgression lines could provide an excellent tool for the transfer of earliness, favourable amino acid composition, biotic stress resistance, abiotic stress tolerance, or good tillering ability into wheat. Results A set of 10 wheat-barley ditelosomic addition lines (2HS, 2HL, 3HS, 3HL, 4HS, 4...

  17. 自然流产胚胎染色体数目异常的临床研究%Clinical research on chromosomal numerical abnormality in embryos of spontaneous abortion

    韦红卫; 杜娟; 陈科; 蒋丽; 谭芸; 白华; 夏红卫; 莫云

    2012-01-01

    Objective: To explore the relationship between chromosomal numerical abnormality and spontaneous abortion, analyze the influencing factors of spontaneous abortion. Methods: Fluorescent in situ hybridization technique was used to detect the chromosomal number in chorionic villus of one hundred cases with early spontaneous abortion, then the relationship between chromosomal number and spontaneous abortion was analyzed. Results: Among 100 cases, 42 cases were found with chromosomal numerical abnormality, accounting for 42. 00% ; 16 cases were found with chimera, accounting for 16.00%. The most common chromosomal abnormality was triploid, accounting for 35. 71% , followed by 45, X and trisomy 16, accounting for 16.67% and 14. 29% , respectively. The detection rate of chromosomal abnormality in advanced age group (3=35 years) was 45.46% (10/22), while the detection rate of chromosomal abnormality in non - advanced age group ( 0.05) . The detection rate of chromosomal abnormality in the cases with history of spontaneous abortion was 42.55% (20/47), while the detection rate of chromosomal abnormality in the cases without history of spontaneous abortion was 41.51% ( 22/53), there was no significant difference ( P > 0. 05) . The detection rate of chromosomal abnormality in the cases of S10 gestational weeks was 45.00% (27/60), while the detection rate of chromosomal abnormality in the cases of > 10 gestational weeks was 37.50% (15/40) , there was no significant difference (P >0.05) . Conclusion; Chromosomal abnormality is the main cause of early spontaneous abortion, regardless of maternal age, previous history of spontaneous abortion or not, and gestational weeks, the cases with spontaneous abortion at this time may be associated with chromosomal abnormality. Clinicians should pay more attention to chromosomal examination, in order to provide genetic counseling for subsequent pregnancy.%目的:探讨染色体数目异常与自然流产的关系及其影响因素.方法:

  18. Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

    Maraschio, P; Zuffardi, O; Dalla Fior, T; Tiepolo, L

    1988-01-01

    Instability of the heterochromatic centromeric regions of chromosomes 1, 9, and 16 associated with immunodeficiency was found in a four year old girl. Similar phenotypic and chromosomal abnormalities were described in a previous patient studied by us and in four other published cases. All these patients have facial anomalies in addition to combined immunodeficiency and chromosomal instability. Stretching of the heterochromatic centromeric regions of chromosomes 1, 16, and to a lesser extent, ...

  19. 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,

  20. 胎儿骨骼系统异常与染色体异常的相关性分析%The correlation analysis of fetal skeletal anomalies with chromosome abnormality by prenatal systematic ultrasonography examination

    熊雯; 罗红; 安绍宇; 吴莹; 刘芸

    2015-01-01

    Objective To evaluate the value of systemic ultrasound examination in prenatal diagnosis of fetus skeletal system anomaly combined with chromosomal abnormalities. Methods In 12 146 patients examined by systemic ultrasound in Sichuan Provincial People's Hospital from 2006 to 2013, 21 fetus with skeletal system abnormalities and chromosomal abnormalities were included in the study. And the correlation between skeletal system abnormalities and chromosomal abnormalities in fetus was evaluated. Results This study involves 21 cases of abnormal fetal skeletal system combined with chromosomal abnormalities. Among them, there were 5 cases of trisomy-21, 11 cases of trisomy-18, 3 cases of trisomy-13, 1 case of [46, XYt (6, 9)], and 1 case of (46, XY, 6 q-). In 19 cases, other system malformations were found, including nervous system abnormalities, facial deformity, cardiac structural abnormalities and intrauterine retardation. In the rest 2 cases, skeletal system abnormalities were the only structural malformation detected on prenatal ultrasound examination. Conclusion Systemic ultrasound can't only detect fetal skeletal system abnormalities but also provide clues for specific chromosomal abnormalities, which was useful in optimizing prenatal diagnosis.%目的评价系统超声检出胎儿骨骼系统异常与染色体异常的相关性。方法收集2006年至2013年在四川省人民医院行系统超声检查的12146人次的胎儿资料,筛选出21例既有骨骼系统异常表现又存在染色体异常的胎儿完整临床资料(包括系统超声检查图像资料,引产或产后追踪结果,羊水穿刺胎儿染色体检测结果),评价超声可检出的骨骼系统异常与染色体异常之间的相关性。结果本组资料共21例胎儿骨骼系统异常合并染色体异常,其中21-三体5例,18-三体11例,13-三体3例,余染色体异常2例[46,XYt(6,9),(46,XY,6 q-)],21-三体5例,18-三体11例,13-三体3例均

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

    唐萍

    2015-01-01

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

  2. 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.

  3. The effect on lymphocyte chromosomes of additional radiation burden due to fallout in Salzburg (Austria) from the Chernobyl accident

    An investigation has been carried out to determine whether chromosome aberrations in peripheral blood lymphocytes reflect the elevated environmental dose of low-LET ionising radiation, mainly due to radiocesium from Chernobyl fallout, to the population living in Salzburg city. Sixteen volunteers were sampled 1 year after the Chernobyl accident. Two of these persons were also sampled before the accident, and then in 1988 and 1990. The radioactive environment of Salzburg city and the radiation burden of its inhabitants have been frequently determined before and after the accident. The Cs-137 content of the volunteers was measured by whole-body counting. The additional external plus internal radiation doses in the year 1987 to the tested individuals ranged between 15 and 68% of the former normal environmental burden. The aberration frequencies showed a sharp increase of about a factor 6 from the pre-Chernobyl dose rate (0.9. mGy/year) to the post-Chernobyl dose rate (about 2 mGy/year total) but then decreased again with higher additional dose. In the two persons analysed before and up to 4 years after the accident the aberration yield showed a significant increase from 1984/85 to 1987, a decrease in 1988 and a further decrease in 1990. If these last 2 values are plotted against additional dose they fit the curve of the pooled 1987 values. The dose-effect curves revealed the same tendency as we found in various previous investigations and support the assumption that repair enzymes could be triggered by a certain amount of damage to the DNA

  4. Establishment of a complete alien tomato chromosome addition series in potato through the use of GISH and RFLP analyses

    Haider Ali, S.N.

    2001-01-01

    Producing somatic fusion hybrids between distantly related non-crossable taxa opened the possibilities for the introgression of useful genes or chromosomes from various species to cultivated crops. The molecular biological techniques like genome analysis by molecular markers, amplified fragment length polymorphism (AFLP) restriction fragment length polymorphism (RFLP) and in situ hybridization (ISH) have enabled the identification of genomes and individual chromosomes with great accuracy and ...

  5. Fetal chromosome analysis: screening for chromosome disease?

    Philip, J; Tabor, Ann; Bang, J;

    1983-01-01

    A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were...... unbalanced chromosome abnormality in group A (women with elevated risk) is significantly higher than in group B + C (women without elevated risk) (relative risk 2.4). Women with a known familial translocation and women 40 years or more have a relative risk of 5.7 of having an unbalanced chromosome......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...

  6. 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.

  7. Premature chromosome condensation associated with fluorescence in situ hybridisation detects cytogenic abnormalities after a CT scan: Evaluation of the low-dose effect

    The purpose of this study was to assess the cytogenetic effects of the X ray irradiation used during an CT scan in order to estimate the mean absorbed dose in circulating lymphocytes. Chromosomal aberrations were scored in blood lymphocytes of ten patients undergoing CT scans, by applying fluorescence in situ hybridisation to metaphase cells and premature chromosome condensation (PCC) with chromosomes 1, 3 and 4 painting probes immediately after exposure. This generated a dosimetric index that reflects the dose to the circulating lymphocytes. By using PCC a significant increase in the frequency of chromosomal fragments was observed immediately after an CT scan. However, no significant increase in chromosomal aberration was detected in metaphase cells. The mean dosimetric index immediately after exposure was 0.057 Gy (95% CI: 0.052-0.082 Gy). This dosimetric index depends essentially on the size of the examined and exposed blood volumes. This dose is in close agreement with the dose length product (DLP) (Gy cm) (R=0.80). It should be kept in mind when justifying requests for diagnostic CT scans especially in young patients. The presence of chromosomal fragments after a CT scan indicated the cytogenetic effect of a low dose. PCC associated with chromosome painting is a method for detecting the cytogenetic effect of a low dose immediately after exposure. (author)

  8. A case of trisomy of chromosome 15

    Coldwell, S; Fitzgerald, B.; Semmens, J.M.; Ede, R; Bateman, C

    1981-01-01

    We describe a case of trisomy of chromosome 15 in an infant who presented at birth with numerous abnormalities. As far as we are aware this chromosomal abnormality has not been described before. On the basis of this one case there appear to be no features which are specific to this chromosomal abnormality.

  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. Chromosome 1q21 gains confer inferior outcomes in multiple myeloma treated with bortezomib but copy number variation and percentage of plasma cells involved have no additional prognostic value.

    An, Gang; Xu, Yan; Shi, Lihui; Shizhen, Zhong; Deng, Shuhui; Xie, Zhenqing; Sui, Weiwei; Zhan, Fenghuang; Qiu, Lugui

    2014-02-01

    Chromosome 1q21 aberrations have not been yet been made part of routine clinical tests and their effect in multiple myeloma is still under investigation. The prognostic value of copy number variation and percentage of plasma cells involved have remained unclear. In the present study, we analyzed the prognostic value of 1q21 in a series of 290 cases of newly diagnosed multiple myeloma treated in a prospective, non-randomized clinical trial (BDH 2008/02). We found that incidence of 1q21 aberration increased at relapse, but its copy numbers and proportion of cells involved did not change. Gains of 1q21 had no impact on survival in patients receiving thalidomide-based treatment but conferred a significantly inferior prognosis in patients under bortezomib-based chemotherapy and was an independent adverse prognostic factor for progression free survival (HR 3.831; 95%CI: 2.125-6.907; Pnumber variation and clone size harboring 1q21 gains carried no additional prognostic value and patients with 1q21 gains did not benefit significantly from regimens incorporating bortezomib. Our results indicate that three copies of 1q21 and 20% of plasma cells with this abnormality were enough to confer bortezomib resistance. Therefore, chromosome 1q21 gains should be considered a high-risk feature in multiple myeloma receiving bortezomib therapy. PMID:24213147

  11. Chromosome 13q deletion and IgH abnormalities may be both masked by near-tetraploidy in a high proportion of multiple myeloma patients: a combined morphology and I-FISH analysis.

    Koren-Michowitz, Maya; Hardan, Izhar; Berghoff, Janina; Yshoev, Galina; Amariglio, Ninette; Rechavi, Gideon; Nagler, Arnon; Trakhtenbrot, Luba

    2007-10-01

    Ploidy status and chromosomal aberrations involving chromosome 13q and the immunoglobulin heavy chain locus (IgH) are important prognostic features in multiple myeloma (MM). However, conventional cytogenetic studies are often not reveling and determination of plasma cells (PC) ploidy status in MM is technically difficult. We have used a combined cell morphology and interphase FISH (I-FISH) analysis in 184 consecutive BM samples from 136 MM patients for the diagnosis of chromosome 13q deletion [del (13q)] and IgH abnormalities. We have found a high prevalence (37%) of near-tetraploid (NT) PC in the BM samples studied. NT status of PC was verified with DNA index (DI) measurements. del (13q) was found in 69% and a total absence of one IgH copy (loss of IgH) in 20% of NT samples. We have shown that the presence of del (13q) and loss of IgH can be masked in NT cases: in 12 NT samples originally identified as normal for del (13q) the abnormality was obscured in the majority of plasma cells due to the presence of NT. Similarly, loss of IgH was masked in four samples with a large population of NT cells. Moreover, in one case the appearance of a 100% tetraploidy during disease progression masked the presence of del (13q), originally present, and could therefore falsely appear as disappearance of this prognostic marker. In conclusion, we have shown that a combination of three abnormalities, i.e., del (13q), loss of IgH and NT, all of potential prognostic significance, can be overlooked unless NT is specifically searched for and ruled out. Therefore, we suggest that a search for NT should be added to the routine BM assessment in MM patients. PMID:17590504

  12. Prenatal diagnosis of single umbilical artery: implications for chromosomal abnormalities and neonatal outcome%胎儿单脐动脉与胎儿染色体异常疾病的产前诊断

    常清贤; 陈翠华; 钟梅; 裘毓雯; 肖超群; 黄启涛; 余艳红

    2013-01-01

    Objective To investigate the implications of a prenatal diagnosis of single umbilical artery (SUA) for chromosomal abnormalities and neonatal outcomes. Methods From January, 2008 to June, 2012, color Doppler ultrasound identified 44 fetuses with SUA. Prenatal diagnoses with amniocentesis or umbilical blood sampling were subsequently ordered for routine chromosome karyotyping and the newborns were followed up for assessing the neonatal outcomes. Results Of all the 44 fetuses, 24 had uncomplicated SUA, and 20 had other concurrent abnormalities (including 8 with abnormal ultrasound soft indexes and 12 with chromosomal abnormalities). The two groups of fetuses showed significant differences in gestational weeks at delivery and incidence of chromosomal abnormalities but not in neonatal weight, placenta weight or APGAR score. Conclusions Fetuses with a prenatal diagnosis of SUA and other development abnormities need to undergo prenatal chromosomal examination. For fetuses with uncomplicated SUA, careful ultrasound examination is necessary to avoid missed diagnosis of potential congenital abnormalities.%目的 分析单脐动脉是否合并其他异常时与胎儿染色体疾病的关系及新生儿预后.方法 对本院产前诊断中心2008年1月~2012年6月通过彩色多普勒超声诊断为单纯性单脐动脉及单脐动脉合并其他异常的胎儿,行羊膜腔穿刺取羊水及脐静脉穿刺取脐带血,常规进行染色体核型分析并对出生后的婴儿追踪随访观察.结果 经超声诊断为单脐动脉进行染色体检查的孕妇共44名,其中单纯性单脐动脉24例;单脐动脉合并其他异常20例,其中单脐动脉合并超声软指标异常8例,单脐动脉合并胎儿发育异常12例.单纯性单脐动脉组(n=24)与单脐动脉合并其他异常组(n=20)间分娩孕周和胎儿染色体异常的发生率有显著性差异.胎儿出生体质量,出生后APGAR评分及胎盘质量间,两组无明显差异.结论 对超声检查诊

  13. Exceptional Complex Chromosomal Rearrangements in Three Generations

    Hannie Kartapradja

    2015-01-01

    Full Text Available We report an exceptional complex chromosomal rearrangement (CCR found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

  14. 用FISH技术分析一例表型异常的 染色体平衡易位%Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization

    2001-01-01

    Objective  To delineate the chromosome structural aberration in a case of chromosome translocation by fluorescence in situ hybridization(FISH) technique and precisely identify the breakpoints. Methods  The whole chromosome point 5(wcp5) and locus-specific probes derived from yeast artificial chromosomes(YACs) mapping the nearby region of breakpoints were used to delineate the translocation t(5;10) found by high resolution G-banding examination in a case with congenital abnormality. Results A balanced translocation was confirmed and the breakpoints were located in the 1.5 Mb area on chromosome 5 and within the approximately 3 Mb interval on chromosome 10. Conclusion  The phenotypic abnormality might result from the disruption of disease-associated gene(s) or microrearrangement(s) on the site of breakpoint(s).%目的应用荧光原位杂交技术对1例染色体结构异常患者进行分析,阐明结构异常性质,并精细定位断点。方法对一先天表型异常经细胞遗传学检查有t(5;10)的病例,分别选用5号染色体探针池以及用酵母人工染色体作为DNA来源制备的断点区位点特异性探针,进行荧光染色体原位杂交。结果证实患者染色体异常属平衡易位,并将5号和10号染色体的断点分别定位到1.5 Mb及约3 Mb的范围。结论患者的先天性表型异常可能由断点处染色体细微重排或致病基因断裂所致。

  15. Infantile spasms associated with proximal duplication of chromosome 15q.

    Bingham, P M; Spinner, N B; Sovinsky, L; Zackai, E H; Chance, P F

    1996-09-01

    We describe a case of infantile spasms associated with a chromosome abnormality (supernumerary inverted duplication of chromosome 15 [47,XX,+inv dup(15)]). The patient was nondysmorphic and presented with mild hypotonia and delay in acquisition of gross motor milestones before the diagnosis of seizures at age 7 months. Additional features included unilateral sensorineural deafness and torticollis. Molecular cytogenetic studies confirmed that the patient has a large inv dup(15). Inv dup(15) chromosomes are variable with respect to the size and genetic composition of the chromosome and in their phenotypic effects. Patients with small inv dup(15s) may have no phenotypic abnormalities, whereas patients with large inv dup(15s) may have multiple abnormalities. ACTH therapy resulted in prompt remission of seizures and resolution of EEG abnormalities. This is the second report of a patient with IS and a supernumerary inv dup(15). Several genes code for neurotransmitter receptor subunits located in the duplicated region of chromosome 15, and abnormal dosage of these genes may be involved in the genesis of seizure activity in carriers of the inv dup(15). Chromosome analysis may lead to a specific diagnosis in infants with unexplained infantile spasms. PMID:8888053

  16. Genetic abnormality predicts benefit for a rare brain tumor

    A clinical trial has shown that addition of chemotherapy to radiation therapy leads to a near doubling of median survival time in patients with a form of brain tumor (oligodendroglioma) that carries a chromosomal abnormality called the 1p19q co-deletion.

  17. 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; Arahata, K; Arikawa, E; Nonaka, I; Anderson, M S; Kunkel, L. M.

    1992-01-01

    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 1/3500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain th...

  18. 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.

  19. Research progress of chromosomal abnormalities in non-Hodgkin's lymphoma%非霍奇金淋巴瘤常见染色体异常的研究进展

    朱锋

    2012-01-01

    Non-Hodgkin's lymphoma (NHL) is a heterogeneous disease from various resources and biological characters. Currently, about 90 % of NHL is relative to chromosomal abnormalities. This review emphasizes chromosomal abnormalities in non-Hodgkin's lymphoma, which can not only help understanding NHL genesis,but also is useful for diagnosis on early stage and proper treatment.%非霍奇金淋巴瘤(NHL)是一组来源不同、生物学特征各异的血液系统常见恶性肿瘤.目前发现约90%的恶性淋巴瘤患者涉及克隆性染色体异常,其中许多染色体异常与淋巴瘤组织学及免疫学亚型有关.文章就NHL常见染色体异常的研究进展作一综述,以了解NHL的发病机制,并为其早期诊断、判断预后和合理治疗提供帮助.

  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. 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

  2. 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.

  3. Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

    Hoogeboom A Jeannette M

    2010-07-01

    Full Text Available Abstract Background 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 might reveal cytogenetic abnormalities of an unexpected complexity. Results We report a 24 years old male patient with lower spinal anomalies, hypospadia, bifid scrotum, cryptorchism, anal atresia, kidney stones, urethra anomalies, radial dysplasia, and a hypoplastic thumb. Some of the anomalies overlap with the VACTERL association. Chromosome analysis of cultured peripheral blood lymphocytes revealed an additional ring chromosome in 13% of the metaphases. Both parents had a normal karyotype, demonstrating the de novo origin of this ring chromosome. FISH analysis using whole chromosome paints showed that the additional chromosomal material was derived from chromosome 18. Chromosome analysis of cultured fibroblasts revealed only one cell with the supernumerary ring chromosome in the 400 analyzed. To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. The array results indicated a 5 Mb gain of the pericentromeric region of chromosome 18q10-q11.2. FISH analysis using BAC-probes located in the region indicated the presence of 6 signals on the r(18 chromosome. In addition, microsatellite analysis demonstrated that the unique supernumerary ring chromosome was paternally derived and both normal copies showed biparental disomy. Conclusions We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11.

  4. 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 ...

  5. 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

  6. 孕中期血清标记物二联筛查用于染色体异常产前筛查%Prenatal screening for chromosome abnormalities with double serum markers in the second-trimester of pregnancy

    陈春; 秦胜芳; 李运星; 邓艺; 伍志灵; 曾兰; 魏萍; 汪雪雁; 席娜

    2013-01-01

    Objective To examine the clinical value of double test with α-fetal protein (AFP) and free β-human chorionic gonadotropin (HCG) as serum markers for prenatal screening of fetal chromosome abnormalities in the second-trimester of pregnancy.Methods Serum concentrations of AFP and Free β-HCG were examined by DELFLA.The laboratory results were combined with information on pregnant woman' s age,gestational weeks,weight,and ultrasonographic findings to calculate the probability of having a fetus with chromosome abnormalities by risk evaluation software.Woman having a fetus with a high risk was referred to amniotic chromosomal karyotyping.Results Among the 43 067 pregnant women screened,6 214 had a high risk of Down Syndrome or Edwards'Syndrome,aged ≥35 years,or had an AFP value of MOM ≤0.4 or β-hCG value of MOM ≤0.3 or ≥2.5.Of the 1 735 pregnant women received prenatal diagnosis,23 fetuses were diagnosed with chromosome abnormalities.Conclusion The double test with AFP and free β-HCG as serum markers in the screening for chromosome abnormalities in the second-trimester of pregnancy has important clinical implications.%目的 结合四川省实际情况,探讨孕中期血清标记物二联筛查(AFP+游离β-hCG)在胎儿染色体异常产前筛查中的临床价值. 方法 应用时间分辨荧光法检测孕妇血清中的甲胎蛋白(AFP)和游离人绒毛膜促性腺激素β亚单位(游离β-hCG)的含量,结合孕妇的年龄、孕周、体重、B超结果等资料,经过风险软件计算后,来筛查胎儿染色体的异常,并以羊水染色体核型分析后的结果来最终诊断. 结果 筛查的43 067名孕妇中,21-三体高风险、18-三体高风险、预产年龄≥35岁及AFP MOM值≤0.4、β-hCG MOM值≤0.3或≥2.5的人次,共计6 214例,1 735名孕妇接受了羊水细胞染色体检查.共检出染色体异常23例. 结论 孕中期血清标记物二联筛查对减少四川地区染色体异常患儿的出生,有着重要的现实意义.

  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. Clinical significant evaluation of the inversion abnormality of chromosome on the fertile dysfunction%生育障碍患者中染色体倒位核型的特点及临床分析

    陈亮; 鞠慧岩; 薛晴; 左文莉; 徐阳; 付杰; 贺占举; 于丽; 齐雯; 潘虹; 陈菲; 张娜; 王玲

    2014-01-01

    Objectives:To analyze the clinical significance of the inversion abnormality of chromosome on the adverse pregnancy events.Methods:Cytogenetics of patients was examined by culturing peripheral-blood lym-phocyte and G-banding technology,and karyotyping analysis technique was used to study the relationship between the chromosomal inversion abnormality and the fertile dysfunction in 1408 couples with adverse pregnancy outcome. Results:Among 2816 cases with adverse pregnancy events,31cases (16 male and 15 female)were found with chromosomal inversion abnormality,and the abnormal rate was 1.10%.There was no significant difference in the abnormal rate of chromosomal inversion between the different genders (male:1.13%,female:1.06%,P>0.05). 25 cases with inv (9)were detected and the detectable rate was 0.89%(25/2816).The other types of inversion abnormality included:one case with inv (6)(q11q21),one case inv (7)(p15q36),one case with inv (18) (p11q21),one case with inv (1)(q34q22),one case with inv(X)(p22q26)and one case with inv (10) (q12q22).The clinical symptoms of inversion abnormality were miscarriage,embryonic diapause,fetal anomalies and et al.Conclusion:During the inversion abnormality related to the fertile dysfunction couples,inv (9 )is the most common type.Inv (9)maybe have some potential effect on the adverse pregnancy events.There is no signifi-cant difference of the detectable rate of inversion abnormality between the different genders.Therefore,the couples with adverse pregnancy outcome should both receive cytogenetically examination at the same time.Possibly,the PGD and ICSI may be helpful to the patients with the inversion abnormality,but the detailed issues need to be fur-ther investigated.%目的:分析及总结生育障碍患者中染色体倒位核型的特点及临床意义。方法:临床分析不良妊娠结局夫妇双方的外周血染色体核型,对男方及女方不同性别间染色体异常的检出率进行比较并进

  9. t(3;21)(q26;q22): a recurring chromosomal abnormality in therapy-related myelodysplastic syndrome and acute myeloid leukemia.

    Rubin, C M; Larson, R A; Anastasi, J; Winter, J N; Thangavelu, M; Vardiman, J W; Rowley, J D; Le Beau, M M

    1990-12-15

    We have identified an identical reciprocal translocation between the long arms of chromosomes 3 and 21 with breakpoints at bands 3q26 and 21q22, [t(3;21)(q26;q22)], in the malignant cells from five adult patients with therapy-related myelodysplastic syndrome (t-MDS) or acute myeloid leukemia (t-AML). Primary diagnoses were Hodgkin's disease in two patients and ovarian carcinoma, breast cancer, and polycythemia vera in one patient each. Patients had been treated with chemotherapy including an alkylating agent for their primary disease 1 to 18 years before the development of t-MDS or t-AML. We have not observed the t(3;21) in over 1,500 patients with a myelodysplastic syndrome or acute myeloid leukemia arising de novo or in over 1,000 patients with lymphoid malignancies. We have previously reported that the t(3;21) occurs in Philadelphia chromosome-positive chronic myelogenous leukemia (CML). Thus, the t(3;21) appears to be limited to t-MDS/t-AML and CML, both of which represent malignant disorders of an early hematopoietic precursor cell. These results provide a new focus for the study of therapy-related leukemia at the molecular level. PMID:2265251

  10. 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

  11. Evaluation of ETV6/RUNX1 Fusion and Additional Abnormalities Involving ETV6 and/or RUNX1 Genes Using FISH Technique in Patients with Childhood Acute Lymphoblastic Leukemia.

    Aydin, Cigdem; Cetin, Zafer; Manguoglu, Ayse Esra; Tayfun, Funda; Clark, Ozden Altiok; Kupesiz, Alphan; Akkaya, Bahar; Karauzum, Sibel Berker

    2016-06-01

    Childhood acute lymphoblastic leukemia (ALL) is the most common type of childhood leukemia. Specifically, ALL is a malignant disorder of the lymphoid progenitor cells, with a peak incidence among children aged 2-5 years. The t(12;21)(p13;q22) translocation occurs in 25 % of childhood B cell precursor ALL. In this study, bone marrow samples were obtained from 165 patients with childhood ALL. We analyzed the t(12;21) translocation and other related abnormalities using the fluorescent in situ hybridization (FISH) technique with the ETV6(TEL)/RUNX1(AML1) ES dual color translocation probe. Conventional cytogenetic analyses were also performed. ETV6 and RUNX1 related chromosomal abnormalities were found in 42 (25.5 %) of the 165 patients with childhood ALL. Among these 42 patients, structural changes were detected in 33 (78.6 %) and numerical abnormalities in 9 (21.4 %). The frequency of FISH abnormalities in pediatric ALL cases were as follows: 8.5 % for t(12;21)(p13;q22) ETV6/RUNX1 fusion, 6.0 % for RUNX1 amplification, 3.0 % for tetrasomy/trisomy 21, 1.8 % for ETV6 deletion, 1.21 % for ETV6 deletion with RUNX1 amplification, 1.21 % for ETV6 amplification with RUNX1 amplification, 0.6 % for polyploidy, 0.6 % for RUNX1 deletion, and 0.6 % for diminished ETV6 signal. The most common structural abnormality was the t(12;21) translocation, followed by RUNX1 amplification and ETV6 deletion, while the most commonly observed numerical abnormality was trisomy 21. PMID:27065576

  12. 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.

  13. Cytological and Molecular Characterization of Homoeologous Group-1 Chromosomes in Hybrid Derivatives of a Durum Disomic Alien Addition Line

    Fusarium head blight (FHB) is a devastating disease of durum wheat (Triticum turgidum L., 2n = 4x = 28; AABB). To incorporate FHB resistance from diploid wheatgrass (Lophopyrum elongatum (Host) Á. Löve, 2n = 2x = 14; EE) we produced earlier a stable alien disomic addition line, DGE-1, incorporating...

  14. 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

  15. 超声检查胎儿颈项透明层厚度在筛查胎儿染色体异常中的价值%Value of nuchal translucency thickening in the fetal chromosome abnormality screening

    孙丽娟; 王欣; 吴青青; 阮焱; 姚芩

    2013-01-01

    translucency(NT) thickening in the fetal chromosome abnormality screening.Methods The 14 881 pregnant women received NT measurement in 11-13 +6 weeks at Beijing Obstetrics and Gynecology Hospital from January 2010 to August 2012.The 118 fetuses whose NT≥2.5 mm were recruited.One hundred and eight (91.5%,108/118)of them accepted invasive procedure and karyotype analysis.Results (1) Chromosome karyotype analysis:113 singleton pregnancies (95.8%) and 5 twin pregnancies (4.2%) whose NT thickened from 2.5 mm to 11.0 mm were advised karyotype analysis.The 108 pregnant women accepted karyotype analysis.Among them,88 had normal chromosome karyotype,and 20 had chromosome abnormalities.The detection rate was 18.5 % (20/108).(2) The sensitivity,specificity,false positive rate,false negative rate,total consistent rate,positive predictive value and negative predictive value of prenatal screening of chromosome abnormalities for NT ≥ 2.5 mm were 44%,99%,1%,56%,99%,19% and 100%,respectively.(3) Among the 88 fetuses who had normal karyotype,72 (82%) had isolated thickened NT,while 16 (18%) had fetal structural malformation or intrauterine demise.(4) Among the 10 pregnant women who did not accept fetal karyotype analysis,8 terminated pregnancy because of fetal structural malformation,and the other 2 fetuses died in uterus.(5)All of the 5 twin pregnancies were dichorionic twins,and one of the twins had thickened NT.Among the 5 twin pregnancies,one fetus was trisomy 21 and others had normal karyotype.3 twin pregnancies who had normal chromosomes gave live birth.And the other had a gastroschisis and exstrophy deformity fetuse.This fetuse died in uterus and remaining fetuse had full-term live birth.(6) 35 (29.7%) pregnant women received second trimester Down's syndrome serum screening.One was high risk and was proved a trisomy 21 pregnancy.Thirty-four were low risk and had normal chromosome karyotype.Conclusion NT thickening may indicate fetal chromosome

  16. 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.

  17. 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

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

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

    2001-01-01

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

  19. Congenital abnormalities (a bibliography with abstracts). Report for 1964-November 1979

    Harrison, E.A.

    1979-12-01

    Radiation hazards, food additives, gene mutations, musculoskeletal diseases, neoplasms, leukemia, rubella and chromosomes as related to congenital abnormalities are topics covered by the citations of research reports in the bibliography. (This updated bibliography contains 184 abstracts, 18 of which are new entries to the previous edition.)

  20. Congenital abnormalities (a bibliography with abstracts). Report for 1964-Nov 77

    Harrison, E.A.

    1977-11-01

    Radiation hazards, food additives, gene mutations, musculoskeletal diseases, neoplasms, leukemia, rubella and chromosomes as related to congenital abnormalities are topics covered by the citations of research reports in the bibliography. (This updated bibliography contains 141 abstracts, 30 of which are new entries to the previous edition.)

  1. 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.

  2. Clinical value and effectiveness of sonography screening for fetal chromosomal abnormalities in the middle and late pregnancy%中晚孕期超声筛查胎儿染色体异常的有效性及应用价值研究

    马喆; 陶国伟; 展新风; 刘村; 程琳; 宋瑶; 刘芳; 刘韶平

    2009-01-01

    目的 研究中晚孕期超声筛查胎儿染色体异常的有效性及应用价值.方法 经超声筛查为结构异常的中晚孕期胎儿和经孕母血清筛查为高风险的中期妊娠胎儿,行羊膜腔或脐静脉穿刺取羊水或脐血,作染色体核型诊断.结果 ①超声筛查接受检查的结构异常胎儿31例,检出异常染色体8例,检出率为25.8%.31例中颈部淋巴囊肿伴水肿3例,全部染色体异常;单纯颈项皮肤增厚3例,其中2例染色体异常;多发畸形、Dandy-Walker畸形及前脑无裂畸形各1例,染色体均异常.②血清筛查接受检查的唐氏综合征和18-三体高风险孕妇516例,检出异常染色体14例,检出率为2.71%.14例中唐氏综合征7例,其他染色体异常7例.③单纯超声筛查和血清筛查共筛查为高危又接受诊断者544(516+28)例,检出异常染色体21(14+7)例,两种方法互补染色体异常检出率为3.86%.互补筛查检出率是血清筛查的1.42倍,比血清筛查提高42.43%.结论 ①中晚孕期超声显示的某些胎儿结构异常是提示胎儿染色体异常的有效指征.②超声和血清两种筛查方法互补,可以提高染色体异常的检出率,对于血清失筛查或筛查低危漏诊孕妇是有效的弥补措施.%Objective To evaluate the clinical value and effectiveness of ultrasound screening for fetal chromosomal abnormalitie in the middle and late pregnancy. Methods Fetuses who were detected with abnormal ultrasound findings during the middle and late pregnancy, and high risk of maternal serum screening underwent amnioeentesis or eordocentesis for fetal chromosome karyotypes. Results (1) A total of 31 cases with fetal malformation diagnosed by ultrasound were analysed for fetal chromosome karyotypes, and 8 (25.8%) cases were proved with fetal abnormal chromosome karyotypes. There were 3 cases of cervical springwater cyst accompany with edema,and all were fetal abnormal chromosome karyotypes. There were 3 cases of cervical

  3. 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

  4. 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.

  5. Chromosome condensation and segmentation

    Some aspects of chromosome condensation in mammalians -humans especially- were studied by means of cytogenetic techniques of chromosome banding. Two further approaches were adopted: a study of normal condensation as early as prophase, and an analysis of chromosome segmentation induced by physical (temperature and γ-rays) or chemical agents (base analogues, antibiotics, ...) in order to show out the factors liable to affect condensation. Here 'segmentation' means an abnormal chromosome condensation appearing systematically and being reproducible. The study of normal condensation was made possible by the development of a technique based on cell synchronization by thymidine and giving prophasic and prometaphasic cells. Besides, the possibility of inducing R-banding segmentations on these cells by BrdU (5-bromodeoxyuridine) allowed a much finer analysis of karyotypes. Another technique was developed using 5-ACR (5-azacytidine), it allowed to induce a segmentation similar to the one obtained using BrdU and identify heterochromatic areas rich in G-C bases pairs

  6. The presence of synaptic and chromosome disjunction mutants in Cenchrus ciliaris (Poaceae: Paniceae

    N. C. Visser

    1999-12-01

    Full Text Available Synaptic mutants are present in  Cenchrus ciliaris L This species, due to the presence of linear bivalents and occasion­al trivalents and quadrivalents, is an intermediate desynaptic species. In addition, geographical distribution and environmental factors, such as high temperatures and low humidity, could also have had an influence on the desynapsis observed.The disjunction of chromosomes during anaphase I was mostly abnormal in this desynaptic species. Precocious disjunction of chromosomes into chromatids occurred during anaphase I Due to the high incidence of this chromosome abnormality, a mutant gene,  'pc'  responsible for the disjunction of chromosomes, must be present. The absence of cytokinesis in one specimen indicates a recessive mutant gene,  'va' to be active in this species.

  7. Cytogenetic abnormalities additional to t(11;14) correlate with clinical features in leukaemic presentation of mantle cell lymphoma, and may influence prognosis: a study of 60 cases by FISH.

    Parry-Jones, N; Matutes, E; Morilla, R; Brito-Babapulle, V; Wotherspoon, A; Swansbury, G J; Catovsky, D

    2007-04-01

    Mantle cell lymphoma (MCL), characterised by t(11;14)(q13;q32), has a poor prognosis. Many cases have additional cytogenetic abnormalities, and often have a complex karyotype. Fluorescence in situ hybridisation (FISH) was used to study 60 cases with leukaemic presentation of MCL, to determine the frequency, clinical correlations and prognostic impact of a panel of molecular cytogenetic abnormalities: 17p13 (TP53 locus), 13q14, 12 p11.1-q11 (centromere), 6q21 and 11q23. CD38 expression, of prognostic value in chronic lymphocytic leukaemia (CLL), was also studied, and correlations with clinical and cytogenetic abnormalities sought. Eighty per cent of cases had at least one abnormality in addition to t(11;14). Deletions at 17p13 (TP53) and 13q14 were most frequent and involved the majority of the leukaemic clone. Cases with TP53 deletion were more likely to have splenomegaly and marked leucocytosis (>30 x 10(9)/l), and less likely to have lymphadenopathy than those without deletion. Deletions at 11q23 and 6q21 were associated with extranodal disease. 13q14 and 11q23 deletions showed a trend towards worse prognosis by univariate analysis. In multivariate analysis, deletions at 13q14 and 6q21 were independent predictors of poor outcome. Deletion at 17p13 did not show prognostic impact in this series. CD38, positive in two-thirds of cases, was associated with male gender and nodal disease but not with any cytogenetic abnormality, or with survival. PMID:17391491

  8. Label Free Chromosome Translocation Detection with Silicon nanowires

    Kwasny, Dorota; Andersen, Karsten Brandt; Frøhling, Kasper Bayer;

    HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method is a Fluore...

  9. 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

  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...... 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...... impedance spectroscopy was selected as the sensing method on a microfabricated chip with array of 12 electrode sets. Two independent chips (Chip1 and Chip2) were used for targeting the chromosomal fragments involved in the translocation. Each chip was differentially functionalized with DNA probes matching...

  11. Congenital Abnormalities

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

  12. 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.

  13. Cloning of allene oxide cyclase gene from Leymus mollis and analysis of its expression in wheat–Leymus chromosome addition lines

    Eltayeb Habora, Mohamed Elsadig; Eltayeb, Amin Elsadig; Oka, Mariko; Tsujimoto, Hisashi; TANAKA, Kiyoshi

    2013-01-01

    Leymus mollis (Triticeae; Poaceae) is a useful genetic resource for wheat (Triticum aestivum L.) breeding via wide hybridization to introduce its chromosomes and integrate its useful traits into wheat. Leymus mollis is highly tolerant to abiotic stresses such as drought and salinity and resistant to various diseases, but the genetic mechanisms controlling its physiological tolerance remain largely unexplored. We identified and cloned an allene oxide cyclase (AOC) gene from L. mollis that was ...

  14. Chromosomes, cancer and radiosensitivity

    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

  15. 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.

  16. 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.

  17. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

    Popp, Susanne; Schulze, Birgit; Granzow, Martin; Keller, Monika; Holtgreve-Grez, Heidi; Schoell, Brigitte; Brough, Michaela; Hager, Hans-Dieter; Tariverdian, Gholamali; Brown, Jill; Kearney, Lyndal; Jauch, Anna

    2002-07-01

    Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis. PMID:12136233

  18. Prenatal screening and diagnosis of fetal abnormal chromosome and nervous tube defect: report of 7698 cases%胎儿染色体异常和神经管缺陷的产前筛查与诊断7698例分析

    黄瑞萍; 周红; 狄志英; 张雅英; 孙达成

    2008-01-01

    This study was to explore the value of maternal serum screen in identification of fetal abnormal chromosome and neural tube defect(NTD). By using time-distinguished fluorescence immunoassay, serum levels of free-β-HCG and alpha fetal protein(AFP)were obtained in 7698 pregnant women at 15~20 +6weeks. and 483 were found at a higher risk of fetal abnormal chromosome. Based on amniotic fluid examination or cord blood testing on 344 high. Risk participants. Fetal abnormal chromosome was found in 18 women with a positive rate of 5. 2%. Twenty-five pregnant women were NTD high-risk, and their positive rate was 0. 3%. B-mode ultrasound identified 6 fetal malformations and 2 fetal deaths ( positive rate of 32. 0%). In high-risk or low-risk group, there were 25. 6%and 7. 7%subjects developed adverse outcome, respectively(P<0. 05). Our findings suggested that maternal serum screen is an effective prediction factor for fetal abnormal chromosome and NTD.%应用时间分辨免疫荧光分析法对7698例妊娠15~20 +6周的妇女进行甲胎蛋白(AFP)和人绒毛膜促性腺激素游离β亚基(free-β-HCG)检测,筛出染色体异常高风险孕妇483例,其中344例接受羊水或脐血管穿刺产前诊断,发现胎儿染色体异常18例,异常检出率5.2%.筛出神经管缺陷高风险孕妇25例,经B超证实胎儿畸形6例,死胎2例,异常检出率32.O%.筛查高风险组和低风险组的妊娠不良结局分别为25.6%和7.7%,差异有统计学意义(P<0.05).提示孕中期母血清筛查是预测胎儿染色体异常和神经管缺陷的有效指标,筛查高风险与母婴不良妊娠结局有相关性.

  19. 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.

  20. 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.

  1. A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.

    Mundhofir, F E P; Kooper, A J A; Winarni, T I; Smits, A P T; Faradz, S M H; Hamel, B C J

    2010-01-01

    We report on a boy with partial trisomies for chromosomes 8 and 22 caused by the presence of a small supernumerary marker chromosome (sSMC), a der(22)t(8;22)(p22;q11.21), inherited from a t(8;22)(p22;q11.21) translocation carrier mother. He has mild mental retardation, unability to speak distinct words and several minor anomalies i.e. high forehead and hairline, telecanthus, upslanting palpebral fissures, depressed nasal bridge, nail hypoplasia, toe position anomaly and 5th finger clinodactyly. He has two maternal uncles and one maternal aunt with mental retardation. G-banding technique showed 47,XY,+mar whilst his mother's karyotype showed a balanced reciprocal translocation between the chromosomes 8 and 22. Fluorescence In Situ Hybridization (FISH) technique with probes for centromere 22 and 8pter were used to detect the origin of marker chromosome and confirmed the marker chromosome in the proband showing to be extra chromosomal material originated from chromosome 8 and 22. Additional genome wide microarray analysis, using the Affymetrix Nspl 250K SNP array platform was performed to further characterize the marker chromosome and resulted in a der(22)t(8;22)(p22;q11.21). Furthermore, cytogenetic analysis of three affected family members showed the same unbalanced translocation, due to 3:1 meiotic segregation. This indicated the viability of this unbalanced pattern and combined with the recurrent miscarriages by the proband's mother, the mechanism of transmitting extrachromosomal material is probably not a random process. Since, there is no similar translocation (8p;22q) reported and the chromosomal translocation largely exists of additional 8p22-8pter we compare the clinical outcomes with reported cases of 8p22-8pter triplication, although there is a part of genetic material derived from chromosome 22 present. This unique familial chromosome translocation case from Indonesia will give insight in the underlying mechanism of this recurrent chromosomal abnormality

  2. 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

  3. [Induced acute non-lymphoblastic leukemia and prognostic significance of cytogenetic abnormalities: trisomy in chromosome 8, inv(16)(p13q22), and t(8;21)(q22;q22)].

    Tretiak, N M; Vakul'chuk, O M; Kalinina, S Iu

    2008-01-01

    3 patients with secondary acute non-lymphoblastic leucosis have been observed. The cytogenetic analysis revealed pathologic karyotypes: 46, XY,+8, t(8;21), inv 16. Two patients have been found with typical markers of damaged chromosome of radiation origion. Insensibility of blastic cells to cytostatic therapy was typical for the patients. PMID:18822849

  4. Meiotic chromosomal variation resulting from irradiation of pollen in maize

    The objective of this study was to standardize an induction strategy of chromosome aberrations in maize inbred line L-869. Pollen grains irradiated with 0, 36 and 72 Gy were used for fertilization. Resulting seeds were planted in a greenhouse to assess the number of abnormal meiotic cells. Germination, height, sterility and mortality were verified. Cells with delayed separation of chromosomes, translocation, deficiency, abnormal pairing, later condensation and anaphase bridges were observed. The number of abnormalities increased as the dosage increased but chromosome aberration types were the same regardless of the dosages used. Various chromosome-altered plants were obtained without viability loss. (author)

  5. Unique Variant Complex Chromosome Translocation in Myeloid Leukemia: Report of a Case and Literature Review

    Abolfazl Movafagh

    2012-04-01

    Full Text Available Background: According to the literature, there are a number of chronic and acute myeloid leukemias with unique, complex chromosome translocations. This study aims to conduct a brief review of the incidence of complex chromosome translocations in myeloid leukemia and reports a case of myeloid leukemia with complex chromosome translocations.Methods: We conducted a web-based search for all peer review articles published on the subject of complex chromosome tranlsocations in chronic and acute myeloid leukemia in MEDLINE, PubMed and Mitelman (http://cgapanci.nih.gov/chromosomes/Mitelman databases in addition to other pertinent web references. In addition, we performed conventional cytogenetic studies of 24- to 72-h cultures on bonemarrow/peripheral blood cells obtained from the current case. Cells were finally treated by the giemsa-trypsin-giemsa banding technique.Results: The result of this case revealed an abnormal karyotype that had a novel complex translocation which involved chromosomes 2, 5, 9, and 22. We performed karyotyping after the initiation of chemotherapy. Karyotyping results showed a complex karyotype 46,XX,t(9;22;2;5.Conclusion: This study discusses a case of chronic myeloid leukemia with complex chromosome translocations and may provide novel information regarding these translocations in leukemias.

  6. [Chromosomal organization of the genomes of small-chromosome plants].

    Muravenko, O V; Zelenin, A V

    2009-11-01

    An effective approach to study the chromosome organization in genomes of plants with small chromosomes and/or with low-informative C-banding patterns was developed in the course of investigation of the karyotypes of cotton plant, camomile, flax, and pea. To increase the resolving power of chromosome analysis, methods were worked out for revealing early replication patterns on chromosomes and for artificial impairment of mitotic chromosome condensation with the use of a DNA intercalator, 9-aminoacridine (9-AMA). To estimate polymorphism of the patterns of C-banding of small chromosomes on preparations obtained with the use of 9-AMA, it is necessary to choose a length interval that must not exceed three average sizes of metaphase chromosomes without the intercalator. The use of 9-AMA increases the resolution of differential C- and OR-banding and the precision of physical chromosome mapping by the FISH method. Of particular importance in studying small chromosomes is optimization of the computer-aided methods used to obtain and process chromosome images. The complex approach developed for analysis of the chromosome organization in plant genomes was used to study the karyotypes of 24 species of the genus Linum L. It permitted their chromosomes to be identified for the first time, and, in addition, B chromosomes were discovered and studied in the karyotypes of the species of the section Syllinum. By similarity of the karyotypes, the studied flax species were distributed in eight groups in agreement with the clusterization of these species according to the results of RAPD analysis performed in parallel. Systematic positions and phylogenetic relationships of the studied flax species were verified. Out results can serve as an important argument in favour of the proposal to develop a special program for sequencing the genome of cultivated flax (L. usitatissimum L.), which is a major representative of small-chromosome species. PMID:20058798

  7. 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

  8. 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

  9. 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.

  10. Chromosomal aberration

    Chromosomal aberrations are classified into two types, chromosome-type and chromatid-type. Chromosom-type aberrations include terminal deletion, dicentric, ring and interstitial deletion, and chromatid-type aberrations include achromatic lesion, chromatid deletion, isochromatid deletion and chromatid exchange. Clastogens which induce chromosomal aberration are divided into ''S-dependent'' agents and ''S-independent''. It might mean whether they can induce double strand breaks independent of the S phase or not. Double strand breaks may be the ultimate lesions to induce chromosomal aberrations. Caffeine added even in the G2 phase appeared to modify the frequency of chromatid aberrations induced by X-rays and mitomycin C. Those might suggest that the G2 phase involves in the chromatid aberration formation. The double strand breaks might be repaired by ''G2 repair system'', the error of which might yield breakage types of chromatid aberrations and the by-pass of which might yield chromatid exchanges. Chromosome-type aberrations might be formed in the G1 phase. (author)