DOCSLIB.ORG

The Type and Prevalence of Chromosomal Abnormalities in Couples

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
The Type and Prevalence of Chromosomal Abnormalities in Couples Journal of Gynecology Obstetrics and Human Reproduction 48 (2019) 521–525 Available online at ScienceDirect www.sciencedirect.com Original Article The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study a, b a a Malik Ejder Yildirim *, Savas Karakus , Hande Kucuk Kurtulgan , Burak Baser , a Ilhan Sezgin a Cumhuriyet University, Faculty of Medicine, Department of Medical Genetics, Turkey b Cumhuriyet University, Faculty of Medicine, Department of Obstetrics and Gynecology, Turkey A R T I C L E I N F O A B S T R A C T Article history: Objective: Chromosomal abnormalities are more common in the first trimester abortions. We aimed to Received 8 March 2019 investigate the types and prevalence of chromosomal abnormalities in couples with recurrent first Received in revised form 2 May 2019 trimester miscarriages in Sivas, Turkey. Accepted 7 May 2019 Materials and medhods: Three hundred couples (600 individuals) who had a story of recurrent abortion Available online 11 May 2019 were included in the study. Chromosome analysis was performed after the preparation of lymphocyte culture with the standard method. Karyotype analyses were supported by FISH and aCGH studies. Keywords: Results: Total 26 chromosome abnormalities (8.7%) were found in the couples (19 females and 7 males). Recurrent abortion Fifteen cases (57.7%) were structural anomalies and eleven cases (42.3%) were numerical chromosomal Chromosomal abnormality Heterochromatin aberrations. We detected 5 balanced translocations (33.3%), 4 Robertsonian translocations (26.7%), 3 Satellite inversions (20%), 2 duplications (13.3%) and one deletion (6.7%) among the structural anomalies. Mosaic monosomy X in five cases (45.4%), the combination of mosaic monosomy-trisomy X in three cases (27.3%), the combination of mosaic monosomy-trisomy and tetrasomy X in two cases (18.2%) and mosaic pentasomy X in only one individual (9.1%) were encountered as numerical chromosome aberrations. 19 cases had heterochromatic changes or other chromosomal variations (satellite increments and inv9). Conclusion: Chromosome analysis in couples with recurrent miscarriage is necessary for possible preimplantation genetic diagnosis. As well as numerical and structural chromosome abnormalities, some chromosomal variations (heterochromatin and satellite increments etc.) may also contribute to recurrent miscarriages. Numerical chromosomal abnormalities are often associated with sex chromosomes and usually seen in females. © 2019 Elsevier Masson SAS. All rights reserved. Introduction who are 35 years old and over [3,4]. If the main cause of pregnancy loss cannot be explained; this abortion may be evaluated as Recurrent miscarriage (RM) may be defined as two or three and idiopathic or unexplained spontaneous abortion. more consecutive pregnancy losses within the first 20 weeks of Chromosome anomalies are important especially in early gestation and include approximately 0.8%–1.4% of pregnancies [1]. abortions. The majority of such abnormalities may be due to There may be many different reasons for this problem, but a chromosomal non-disjunction, translocation or another mutation possible cause can be identified in only about 50% of women with [5]. A balanced or unbalanced karyotype in one of the partners in a recurrent miscarriage [2]. The etiology of recurrent abortions may couple as a structural chromosomal abnormality (reciprocal or include endocrine or immunological disorders, parental chromo- Robertsonian translocations etc.) may result in recurrent miscar- somal anomalies, hypercoagulability and anatomic abnormalities riage, or physical and/or mental disorder in next generation [6]. and these consecutive miscarriages are more common in women Numerical chromosome anomalies are also a major cause of abortion. Some researchers suggested that the most common chromosomal abnormality observed within first trimester sponta- * Corresponding author at: Cumhuriyet University, Faculty of Medicine, neous abortions may be single trisomies in abortion materials [7]. Department of Medical Genetics, 58104, Sivas, Turkey. This problem may be associated with a balanced translocation in E-mail addresses: [email protected] (M.E. Yildirim), parents. The percentage of chromosomal variations was expressed [email protected] (S. Karakus), [email protected] as 5.5% in couples with abortions compared to 0.55% of the general (H.K. Kurtulgan), [email protected] (B. Baser), [email protected] (I. Sezgin). population [8]. http://dx.doi.org/10.1016/j.jogoh.2019.05.014 2468-7847/© 2019 Elsevier Masson SAS. All rights reserved. 522 M.E. Yildirim et al. / J Gynecol Obstet Hum Reprod 48 (2019) 521–525 We analyzed the frequency and type of chromosomal abnor- records were examined, it was found that 48% of the cases were malities in recurrent miscarriage in this study. chemical pregnancy, 33% were spontaneous abortion, 12% were missed abortion and 7% of them were blighted ovum. On average, Materials and methods the gravidity, parity and abortion numbers were 4, 1 and 3, respectively (Table 1). Among 300 couples, 26 chromosomal Study population abnormalities (8.7%) were detected in this study. Nineteen of the cases (73.1%) were female and seven (26.9%) of them were male. A retrospective study was done in couples with recurrent first Fifteen individuals (57.7%) showed structural abnormalities and trimester abortions detected from 2012 to 2017 in Cumhuriyet eleven cases (42.3%) had numerical aberrations. In addition, there University Research Hospital. Recurrent miscarriage may be were 19 cases who have polymorphic variants or chromosomal defined as two or more failed clinical pregnancies that terminate variations. Chromosomal variations were predominant among the involuntarily before 20 weeks [9]. In this context, three hundred cases (Fig. 1). couples (600 individuals) who had two or more consecutive Among structural abnormalities in the group, reciprocal miscarriage were included in the study. The study group consisted translocations were detected in five cases (33.3%) and Robertso- of individuals aged 18 years and older with no systemic disease. nian translocations were found in four cases (26.7%). Three The types of recurrent miscarriage in the couples such as empty subjects (20%) had inversion anomaly. One of the inversions was gestational sac, missed abortions, chemical pregnancies and present on the Y chromosome. Duplications were detected in two spontaneous abortions were recorded for the study. The couples individuals (13.3%). There was a deletion of long arm of X were screened for multiple thrombophilic gene mutations. chromosome in one case (6.7%). Duplications and deletion were Hormone levels of women were measured and ultrasonography detected by aCGH (Cytoscan Optima, Thermo Fisher Scientific, and hysterosalpingography were used for the detection of possible USA). abnormalities of the genital tract. Blood tests for immunologic risk Eleven numerical chromosome aberrations were found in factors including antiphospholipid antibodies, antinuclear anti- couples with recurrent abortion and Turner mosaics were the most bodies and antithyroid antibodies were performed. Ectopic frequent numerical abnormalities. Five of the numerical anomalies pregnancies, women with anatomic abnormalities, endocrine (45.4%) were monosomy X mosaicism and in three cases (27.3%), disorder, autoimmune disease and men with sperm anomalies the combination of monosomy-trisomy X mosaicisms were were excluded from the study. This study was approved by detected. Two cases (18.2%) had the combination of mosaic Cumhuriyet University Ethics Committee. monosomy, trisomy and tetrasomy X. Only one of the numerical abnormalities (9.1%) was pentasomy X mosaicism. Mosaic cases Chromosome analysis were evaluated and confirmed by FISH probes (Vysis, Abbott, USA). We detected 19 chromosomal variations (heterochromatin and Metaphase chromosome preparations from the peripheral satellite increments and inv9) in our study group. Most frequent blood cultures were performed on the basis of standard polymorphic variant was inv9 with seven cases. Four individuals cytogenetic protocol. Peripheral blood samples in heparinized had 9qh + and the other heterochromatic variations were 1qh+, injectors were processed for karyotyping. Phytohaemagglutinin 16qh + and 15cenh + respectively. Five cases had satellit increments (0.1 mL) was used for the stimulation of cell proliferation and including 13, 14 or 15. chromosomes. cultured for 72 h at 37 C, in RPMI 1640 medium. Colchicine was added to the cultures. G-banded karyotyping was performed with Discussion trypsin–giemsa banding procedure. Twenty metaphases were scanned for each individual but for suspicious cases (mosaicism Spontaneous miscarriage is the most common complication in etc.) the practice was extended to fifty metaphases. pregnancy. A significant proportion of clinically defined pregnan- cies (about 15%) result in miscarriage [10]. Spontaneous abortion is FISH and aCGH often associated with chromosome anomalies. Approximately 40% of fetuses with an abnormal karyotype may inherit this anomaly Further molecular techniques, such as fluorescence in situ from one of their parents [11 ] and parental chromosomal hybridization (FISH) and array comparative genomic hybridization abnormalities can cause recurrent miscarriages. In this context, (aCGH) were used for detailed analysis. The first stage of the FISH karyotype analysis of couples is important to predict
Load more

Recommended publications
  • The National Economic Burden of Rare Disease Study February 2021
    Acknowledgements This study was sponsored by the EveryLife Foundation for Rare Diseases and made possible through the collaborative efforts of the national rare disease community and key stakeholders. The EveryLife Foundation thanks all those who shared their expertise and insights to provide invaluable input to the study including: the Lewin Group, the EveryLife Community Congress membership, the Technical Advisory Group for this study, leadership from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN), the Little Hercules Foundation, the Rare Disease Legislative Advocates (RDLA) Advisory Committee, SmithSolve, and our study funders. Most especially, we thank the members of our rare disease patient and caregiver community who participated in this effort and have helped to transform their lived experience into quantifiable data. LEWIN GROUP PROJECT STAFF Grace Yang, MPA, MA, Vice President Inna Cintina, PhD, Senior Consultant Matt Zhou, BS, Research Consultant Daniel Emont, MPH, Research Consultant Janice Lin, BS, Consultant Samuel Kallman, BA, BS, Research Consultant EVERYLIFE FOUNDATION PROJECT STAFF Annie Kennedy, BS, Chief of Policy and Advocacy Julia Jenkins, BA, Executive Director Jamie Sullivan, MPH, Director of Policy TECHNICAL ADVISORY GROUP Annie Kennedy, BS, Chief of Policy & Advocacy, EveryLife Foundation for Rare Diseases Anne Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health Elisabeth M. Oehrlein, PhD, MS, Senior Director, Research and Programs, National Health Council Christina Hartman, Senior Director of Advocacy, The Assistance Fund Kathleen Stratton, National Academies of Science, Engineering and Medicine (NASEM) Steve Silvestri, Director, Government Affairs, Neurocrine Biosciences Inc.
    [Show full text]
  • Klinefelter Syndrome) at 9 Years of Age
    17th SSBP International Research Symposium Developmental trajectories of behavioural phenotypes Programme Book 10–13 October 2014 • New York, USA 2 17th International SSBP Research Symposium The Society for the Study 3 of Behavioural Phenotypes 10th – 13th October 2014 The 17th SSBP International Meeting Developmental Trajectories of Behavioural Phenotypes New York, USA 10th – 13th October 2014, New York, USA Contents Contents Welcome ........................................................................................................................................................................................................9 New York Conference Organiser ..............................................................................................................................................10 Scientific Committee ..........................................................................................................................................................................11 4 The SSBP .......................................................................................................................................................................................................12 The SSBP Executive Committee : ...........................................................................................................................................................................12 Meetings of the SSBP ....................................................................................................................................................................................................13
    [Show full text]
  • Chromosome 18
    Chromosome 18 Description Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. Chromosome 18 spans about 78 million DNA building blocks (base pairs) and represents approximately 2.5 percent of the total DNA in cells. Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 18 likely contains 200 to 300 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body. Health Conditions Related to Chromosomal Changes The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 18. Distal 18q deletion syndrome Distal 18q deletion syndrome occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "distal" means that the missing piece (deletion) occurs near one end of the chromosome arm. The signs and symptoms of distal 18q deletion syndrome include delayed development and learning disabilities, short stature, weak muscle tone ( hypotonia), foot abnormalities, and a wide variety of other features. The deletion that causes distal 18q deletion syndrome can occur anywhere between a region called 18q21 and the end of the chromosome. The size of the deletion varies among affected individuals. The signs and symptoms of distal 18q deletion syndrome are thought to be related to the loss of multiple genes from this part of the long arm of chromosome 18.
    [Show full text]
  • First Case Report of Maternal Mosaic Tetrasomy 9P Incidentally Detected on Non-Invasive Prenatal Testing
    G C A T T A C G G C A T genes Article First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing Wendy Shu 1,*, Shirley S. W. Cheng 2 , Shuwen Xue 3, Lin Wai Chan 1, Sung Inda Soong 4, Anita Sik Yau Kan 5 , Sunny Wai Hung Cheung 6 and Kwong Wai Choy 3,* 1 Department of Obstetrics and Gynaecology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China; [email protected] 2 Clinical Genetic Service, Hong Hong Children Hospital, Ngau Tau Kok, Hong Kong, China; [email protected] 3 Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Hong Kong, China; [email protected] 4 Department of Clinical Oncology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China; [email protected] 5 Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Sai Ying Pun, Hong Kong, China; [email protected] 6 NIPT Department, NGS Lab, Xcelom Limited, Hong Kong, China; [email protected] * Correspondence: [email protected] (W.S.); [email protected] (K.W.C.); Tel.: +852-25-957-359 (W.S.); +852-35-053-099 (K.W.C.) Abstract: Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good past health who conceived her pregnancy naturally. Non-invasive prenatal testing (NIPT) showed multiple chromosomal aberrations were consistently detected in two sampling times, which included elevation in DNA from Citation: Shu, W.; Cheng, S.S.W.; chromosome 9p.
    [Show full text]
  • Aneuploidy and Aneusomy of Chromosome 7 Detected by Fluorescence in Situ Hybridization Are Markers of Poor Prognosis in Prostate Cancer'
    [CANCERRESEARCH54,3998-4002,August1, 19941 Advances in Brief Aneuploidy and Aneusomy of Chromosome 7 Detected by Fluorescence in Situ Hybridization Are Markers of Poor Prognosis in Prostate Cancer' Antonio Alcaraz, Satoru Takahashi, James A. Brown, John F. Herath, Erik J- Bergstralh, Jeffrey J. Larson-Keller, Michael M Lieber, and Robert B. Jenkins2 Depart,nent of Urology [A. A., S. T., J. A. B., M. M. U, Laboratory Medicine and Pathology (J. F. H., R. B. fl, and Section of Biostatistics (E. J. B., J. J. L-JCJ, Mayo Clinic and Foundation@ Rochester, Minnesota 55905 Abstract studies on prostate carcinoma samples. Interphase cytogenetic analy sis using FISH to enumerate chromosomes has the potential to over Fluorescence in situ hybridization is a new methodologj@which can be come many of the difficulties associated with traditional cytogenetic used to detect cytogenetic anomalies within interphase tumor cells. We studies. Previous studies from this institution have demonstrated that used this technique to identify nonrandom numeric chromosomal alter ations in tumor specimens from the poorest prognosis patients with path FISH analysis with chromosome enumeration probes is more sensitive ological stages T2N@M,Jand T3NOMOprostate carcinomas. Among 1368 than FCM for detecting aneuploid prostate cancers (4, 5, 7). patients treated by radical prostatectomy, 25 study patients were ascer We designed a case-control study to test the hypothesis that spe tamed who died most quickly from progressive prostate carcinoma within cific, nonrandom cytogenetic changes are present in tumors removed 3 years of diagnosis and surgery. Tumors from 25 control patients who from patients with prostate carcinomas with poorest prognoses .
    [Show full text]
  • General Contribution
    24 Abstracts of 37th Annual Meeting A1 A SCREENING METHOD FOR FRAGILE X MUTATION: DETECTION OF THE CGG REPEAT IN FMR-1 GENE BY PCR WITH BIOTIN-LABELED PRIMER. ..Eiji NANBA, Kousaku OHNO and Kenzo TAKESHITA Division of Child Neurology, Institute of Neurological Sciences, Tot- tori University School of Medicine. Yonago We have developed a new polymerase chain reaction(PCR)-based method for detection of the CGG repeat in FMR-1 gene. No specific product from PCR was detected on the gel with ethidium bromide staining, because 7-deaza-2'-dGTP is necessary for amplification of this repeat. Biotin-labeled primer was used for PCR and the product was transferred to a nylon membrane followed the detection of biotin by Smilight kit. The size of PCR product from normal control were slightly various and around 300bp. No PCR product was detected from 3 fragile X male patients in 2 families diagnosed by cytogenetic examination. This method is useful for genetic screen- ing of male mental retardation patients to exclude the fragile X mutation. A2 DNA ANALYSISFOR FRAGILE X SYNDROME Osamu KOSUDA,Utak00GASA, ~.ideynki INH, a~ji K/NAGIJCltI, and Kazumasa ]tIKIJI (SILL Inc., Tokyo) Fragile X syndrome is X-linked disease having the amplification of (CG6)n repeat sequence in the chromsomeXq27.3. We performed Southern blot analysis using three probes recognized repetitive sequence resion. Normal controle showed 5.2Kb with Eco RI digest and 2.7Kb with Eco RI/Bss ttII digest as the germ tines by the Southern blot analysis. However, three cell lines established fro~ unrelated the patients with fragile X showed the abnormal bands between 5.2 and 7.7Kb with Eco RI digest, and between 2.7 and 7.7Kb with Eco aI/Bss HII digest.
    [Show full text]
  • Tetrasomy 9P Syndrome in a Filipino Infant
    CASE REPORT Tetrasomy 9p Syndrome in a Filipino Infant Ebner Bon G. Maceda,1,2 Erena S. Kasahara,3 Edsel Allan G. Salonga,2 Myrian R. Dela Cruz2 and Leniza De Castro-Hamoy1,2 1Division of Clinical Genetics, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila 2Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila 3Division of Newborn Medicine, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila ABSTRACT Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos. Key Words: Tetrasomy 9p, isochromosome, hypertelorism, bulbous nose INTRODUCTION Tetrasomy 9p is a broad term used to describe the presence of a supernumerary chromosome of the short arm of chromosome 9. In more specific terms, the presence of 2 extra copies of 9p arms can be either isodicentric or pseudodicentric.
    [Show full text]
  • Orphanet Report Series Rare Diseases Collection
    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
    [Show full text]
  • XXXXX Syndrome
    XXXXX Syndrome 49,XXXXX (pentasomy X) is a rare sex chromosome aneu- 2. Craniofacial features ploidy. The birth prevalence of pentasomy X is estimated to be a. Microcephaly 1 in 85,000 females. b. Flattened occiput c. Epicanthus d. Upslanting palpebral fissures GENETICS/BASIC DEFECTS e. Ocular hypertelorism 1. Etiology: Three extra X chromosomes are responsible for f. Uncoordinated eye movements the pentasomy X syndrome. g. Flat broad nose 2. Occurrence of a 49,XXXXX complement: secondary to h. Cleft palate sequential non-disjunctions in meiosis I and meiosis II in i. Low-set ears the mother j. Malformed teeth a. Involves the survival of both X chromosomes in a sin- 3. Skeletal abnormalities gle oocytes through both meiotic divisions a. Short neck i. Once between homologous X chromosomes at b. Lax joints the first meiosis c. Multiple dislocations ii. Twice between sister chromatids in both X chro- i. Shoulders mosomes in the secondary oocytes at the second ii. Elbows meiosis iii. Hips b. Followed by the fertilization by a sperm contributing d. Radioulnar synostosis the 5th chromosome X e. Spinal abnormalities 3. Formation of four Barr bodies f. Clinodactyly of the 5th fingers a. Lyon hypothesis g. Lower leg abnormalities i. Inactivation of all X chromosomes but one i. Genu valgus ii. Account for the viability of the X-chromosome ii. Talipes aneuploidies iii. Metatarsus varus b. Inactivation of four X chromosomes resulting in four h. Delayed bone age Barr bodies 4. Congenital heart defects 4. Effect of supernumerary X chromosomes: a direct rela- a. Ventricular septal defect tionship between the number of supernumerary X chro- b.
    [Show full text]
  • Cytogenetics, Chromosomal Genetics
    Cytogenetics Chromosomal Genetics Sophie Dahoun Service de Génétique Médicale, HUG Geneva, Switzerland [email protected] Training Course in Sexual and Reproductive Health Research Geneva 2010 Cytogenetics is the branch of genetics that correlates the structure, number, and behaviour of chromosomes with heredity and diseases Conventional cytogenetics Molecular cytogenetics Molecular Biology I. Karyotype Definition Chromosomal Banding Resolution limits Nomenclature The metaphasic chromosome telomeres p arm q arm G-banded Human Karyotype Tjio & Levan 1956 Karyotype: The characterization of the chromosomal complement of an individual's cell, including number, form, and size of the chromosomes. A photomicrograph of chromosomes arranged according to a standard classification. A chromosome banding pattern is comprised of alternating light and dark stripes, or bands, that appear along its length after being stained with a dye. A unique banding pattern is used to identify each chromosome Chromosome banding techniques and staining Giemsa has become the most commonly used stain in cytogenetic analysis. Most G-banding techniques require pretreating the chromosomes with a proteolytic enzyme such as trypsin. G- banding preferentially stains the regions of DNA that are rich in adenine and thymine. R-banding involves pretreating cells with a hot salt solution that denatures DNA that is rich in adenine and thymine. The chromosomes are then stained with Giemsa. C-banding stains areas of heterochromatin, which are tightly packed and contain
    [Show full text]
  • Example Document Medical Genetics Center
    รายงานผลการตรวจววเคราะหย เลขทธรออางอนง : 00000 ศผนยยพวนธธศาสตรยการแพทยย 6/6 หมนม 6 ถนนสสขาภนบาล 5 ซอย 32 แขวงออเงนน เขตสายไหม กรสงเทพมหานคร 10220 Accreditation No.4148/57 โทรศกพทย/โทรสาร 086-8861203, 02-7920726 e-mail : [email protected] www.genetics.co.th ชชชอ น.ส............................. HN. ............. โรงพยาบาล .................................... ววนททชเกกบตววอยยาง 19 พฤศจนกายน 2558 12:55 แพทยยผผผสวชงตรวจ นพ.................................... ววนททชรวบตววอยยาง 20 พฤศจนกายน 2558 12:43 ววธทการตรวจ G-banding ชนวดตววอยยาง นนนาครรนา ขผอบยงชทชในการตรวจ Elderly Pregnancy หนยวยสยงตรวจ ไมมมธ Center document Genetics ผลการตรวจExample: 47,XXX คคาอธวบาย : ตรวจพบโครโมโซม 47 โครโมโซม,เปปนเพศหญนง,พบโครโมโซม X เกนนมา 1 โครโมโซม เขอาไดอกกบ Triple X Syndrome Medical หมายเหตธ: Band level 450 band ขผอจคากวดในการทดสอบ: ไมมสามารถตรวจสอบความผนดปกตนขนาดเลลกชนนด submicroscopic rearrangement หรรอ low-level mosaicism ไดอ ผผผรวบรองผล ( .................................. ) ววนททชออกรายงาน : ....................................... นพ.วทรยธทธ ประพวนธยพจนย,พบ.,วว.กธมารเวชศาสตรย American Board of Medical Genetics (Clinical Cytogenetics) Medical Genetics Center : Fo-QP-19/01 : 16-03-2015 : 02 เรียน อ.นพ...................................... ที่นับถือ ตามที่ผลตรวจโครโมโซมจากน ้าคร่้าของ นส........................ (HN .............., Lab no. ..............) พบ โครโมโซม X เกินมา 1 โครโมโซมนั น ความผิดปกติดังกล่าว เข้าได้กับกลุ่มอาการ trisomy X หรือ triple X syndrome ซึ่งเป็นความผิดปกติของโครโมโซมเพศที่พบได้บ่อยในทารกเพศหญิง โดยความผิดปกติของ โครโมโซมแบบนี
    [Show full text]
  • Inside This Issue
    Winter 2014 No. 77 Inside this issue Group News | Fundraising | Members’ Letters | One Family Living with Two Different Chromosome Disorders | Bristol Conference 2014 | Unique Leaflets | Christmas Card Order Form Sophie, Unique’s Chair of Trustees Dear Members, In the past month a few things have reminded me of why it is so important to make connections through Unique but also to draw support from other parents around us. I’ve just returned from Unique’s most recent family conference in Bristol where 150 of us parents and carers had a lovely time in workshops, meals and activities, chatting and watching our children milling around together like one big family since – although we had never met before – we have shared so many experiences in common. However in contrast I have also just met a new mum who has just moved to my area from far away with two toddlers, one with a rare joys of the internet, it is becoming easier to meet others with similar, chromosome disorder, who is starting from scratch with no even very rare, chromosome disorders around the world and to find professional, medical or social support. She reminds me of how yourself talking to them in the middle of the night about some lonely I felt when Max was newly diagnosed, when I knew no one interesting things our children share in common (obsession with with a disabled child let alone anyone with a rare chromosome catalogues, anyone?) And of course we also have an enormous disorder. Elsewhere our latest Unique Facebook group, Unique amount in common with so many parents of children with other Russia, is also just starting up – so far it includes just a small special needs or disabilities around us in our own communities who number of members sharing very different experiences to mine here will often be walking the same path as us.
    [Show full text]