The Principles of Clinical Cytogenetics
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Phenotype Correlations in Individuals with Pathogenic RERE Variants
Genotype-phenotype correlations in individuals with pathogenic RERE variants Valerie K. Jordan,1 Brieana Fregeau,2 Xiaoyan Ge,3,4 Jessica Giordano,5 Ronald J. Wapner,5 Tugce B. Balci,6 Melissa T. Carter,6 John A. Bernat,7 Amanda N. Moccia,8 Anshika Srivastava,8 Donna M. Martin,8,9 Stephanie L. Bielas,8 John Pappas,10 Melissa D. Svoboda,11 Marlène Rio,12,13 Nathalie Boddaert,12,14 Vincent Cantagrel,12,15 Andrea M. Lewis,3,16 Fernando Scaglia,3,16 Undiagnosed Diseases Network, Jennefer N. Kohler,17 Jonathan A. Bernstein,17 Annika M. Dries,17 Jill A. Rosenfeld,3 Colette DeFilippo,18 Willa Thorson,19 Yaping Yang,3,4 Elliott H. Sherr,2 Weimin Bi,3,4 Daryl A. Scott1,3,16* 1) Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA 2) Department of Neurology, University of California, San Francisco, San Francisco, CA, USA 3) Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 4) Baylor Genetics, Houston, TX, USA 5) Institute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center, New York, NY, USA 6) Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada 7) Stead Family Department of Pediatrics, The University of Iowa, Iowa City, IA, USA 8) Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. -
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 2011 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 -
The Advantage of Genome-Wide Microarrays Over Targeted Approaches
PDF hosted at the Radboud Repository of the Radboud University Nijmegen The following full text is a publisher's version. For additional information about this publication click this link. http://hdl.handle.net/2066/70828 Please be advised that this information was generated on 2021-09-24 and may be subject to change. COPY NUMBER VARIATION AND MENTAL RETARDATION opmaak koolen.indd 1 10-09-2008 10:11:31 Copy number variation and mental retardation The studies presented in this thesis were performed at the Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands. The research was supported by a grant from the Netherlands Organization for Health Research and Development (ZonMw). Publication of this thesis was financially supported by the Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands. ISBN/EAN 978-90-6464-290-6 © 2008 D.A. Koolen All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, by print or otherwise, without permission in writing from the author. Cover photo: Printed by: Ponsen & Looijen B.V., Wageningen opmaak koolen.indd 2 10-09-2008 10:11:31 Copy number variation and mental retardation Een wetenschappelijke proeve op het gebied van de Medische Wetenschappen Proefschrift ter verkrijging van de graad doctor aan de Radboud Universiteit Nijmegen op gezag van de rector magnificus prof. mr. S.C.J.J. Kortmann, volgens besluit van het College van Decanen in het openbaar te verdedigen op donderdag 6 november 2008 om 15.30 uur precies door David Aljosja Koolen geboren op 22 juni 1976 te ‘s-Gravenhage opmaak koolen.indd 3 10-09-2008 10:11:32 Promotor: Prof. -
GENETICS and GENOMICS Ed
GENETICS AND GENOMICS Ed. Csaba Szalai, PhD GENETICS AND GENOMICS Editor: Csaba Szalai, PhD, university professor Authors: Chapter 1: Valéria László Chapter 2, 3, 4, 6, 7: Sára Tóth Chapter 5: Erna Pap Chapter 8, 9, 10, 11, 12, 13, 14: Csaba Szalai Chapter 15: András Falus and Ferenc Oberfrank Keywords: Mitosis, meiosis, mutations, cytogenetics, epigenetics, Mendelian inheritance, genetics of sex, developmental genetics, stem cell biology, oncogenetics, immunogenetics, human genomics, genomics of complex diseases, genomic methods, population genetics, evolution genetics, pharmacogenomics, nutrigenetics, gene environmental interaction, systems biology, bioethics. Summary The book contains the substance of the lectures and partly of the practices of the subject of ‘Genetics and Genomics’ held in Semmelweis University for medical, pharmacological and dental students. The book does not contain basic genetics and molecular biology, but rather topics from human genetics mainly from medical point of views. Some of the 15 chapters deal with medical genetics, but the chapters also introduce to the basic knowledge of cell division, cytogenetics, epigenetics, developmental genetics, stem cell biology, oncogenetics, immunogenetics, population genetics, evolution genetics, nutrigenetics, and to a relative new subject, the human genomics and its applications for the study of the genomic background of complex diseases, pharmacogenomics and for the investigation of the genome environmental interactions. As genomics belongs to sytems biology, a chapter introduces to basic terms of systems biology, and concentrating on diseases, some examples of the application and utilization of this scientific field are also be shown. The modern human genetics can also be associated with several ethical, social and legal issues. The last chapter of this book deals with these issues. -
RARE CHROMOSOME DISORDERS the Term, ‘Rare Chromosome Disorders’, Refers to Conditions Which
INFORMATION SHEET Page 1 COMPLEX LEARNING DIFFICULTIES AND DISABILITIES RESEARCH PROJECT (CLDD) RARE CHROMOSOME DISORDERS The term, ‘rare chromosome disorders’, refers to conditions which: 1. occur due to missing, duplicated or re-arranged chromosome material 2. have a low prevalence rate (thus not including chromosomal disorders such as Down syndrome). Chromosomes are structures found in the nuclei of cells in human bodies. Each chromosome contains thousands of genes which determine how we grow and develop. A typically developing person will have 23 pairs of chromosomes with one member of each pair being inherited from each parent, giving a total of 46 individual chromosomes. Two of these are the sex chromosomes which determine whether we are female (XX) or male (XY). The remaining 44 chromosomes are grouped in 22 pairs, numbered 1 to 22. The arms of a chromosome are called ‘p’ (shorter arm) and ‘q’ (long arm) (see Figure 1); these arms are separated into numerical regions, which in turn are divided into bands and sub-bands. p q Figure 1. Diagram of a chromosome Individually, rare chromosome disorders are extremely uncommon, with some being actually unique; however, collectively rare chromosome disorders make up at least one in every 200 live births, with babies either having symptoms from birth or early childhood, or being carriers of a chromosomal abnormality and experiencing the effects when they try to reproduce in later life (Searle and Hultén, 2009). Recent advances in technology and medical expertise has meant that chromosomes can be viewed at ever increasing magnifications, which is resulting in the detection of more complex defects. -
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. -
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. -
(Lcrs) in 22Q11 Mediate Deletions, Duplications, Translocations, and Genomic Instability: an Update and Literature Review Tamim H
review January/February 2001 ⅐ Vol. 3 ⅐ No. 1 Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review Tamim H. Shaikh, PhD1, Hiroki Kurahashi, MD, PhD1, and Beverly S. Emanuel, PhD1,2 Several constitutional rearrangements, including deletions, duplications, and translocations, are associated with 22q11.2. These rearrangements give rise to a variety of genomic disorders, including DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes (DGS/VCFS/CAFS), cat eye syndrome (CES), and the supernumerary der(22)t(11;22) syndrome associated with the recurrent t(11;22). Chromosome 22-specific duplications or low copy repeats (LCRs) have been directly implicated in the chromosomal rearrangements associated with 22q11.2. Extensive sequence analysis of the different copies of 22q11 LCRs suggests a complex organization. Examination of their evolutionary origin suggests that the duplications in 22q11.2 may predate the divergence of New World monkeys 40 million years ago. Based on the current data, a number of models are proposed to explain the LCR-mediated constitutional rearrangements of 22q11.2. Genetics in Medicine, 2001:3(1):6–13. Key Words: duplication, evolution, 22q11, deletion and translocation Although chromosome 22 represents only 2% of the haploid The 22q11.2 deletion syndrome, which includes DGS/ human genome,1 recurrent, clinically significant, acquired, VCFS/CAFS, is the most common microdeletion syndrome. and somatic -
REVIEW ARTICLE Genetic Factors in Congenital Diaphragmatic Hernia
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector REVIEW ARTICLE Genetic Factors in Congenital Diaphragmatic Hernia A. M. Holder,* M. Klaassens,* D. Tibboel, A. de Klein, B. Lee, and D. A. Scott Congenital diaphragmatic hernia (CDH) is a relatively common birth defect associated with high mortality and morbidity. Although the exact etiology of most cases of CDH remains unknown, there is a growing body of evidence that genetic factors play an important role in the development of CDH. In this review, we examine key findings that are likely to form the basis for future research in this field. Specific topics include a short overview of normal and abnormal diaphragm development, a discussion of syndromic forms of CDH, a detailed review of chromosomal regions recurrently altered in CDH, a description of the retinoid hypothesis of CDH, and evidence of the roles of specific genes in the development of CDH. Congenital diaphragmatic hernia (CDH [MIM 142340, Overview of Normal and Abnormal Diaphragm 222400, 610187, and 306950]) is defined as a protrusion Development of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. In some cases, this protrusion is covered by a membranous sac. In con- The development of the human diaphragm occurs be- trast, diaphragmatic eventrations are extreme elevations, tween the 4th and 12th wk of gestation. Traditional views rather than protrusions, of part of the diaphragm that is of diaphragm development suggest that the diaphragm 9 often atrophic and abnormally thin. CDH is a relatively arises from four different structures. -
Mosaic Tetrasomy 9P at Amniocentesis: Prenatal Diagnosis, Molecular Cytogenetic Characterization, and Literature Review
Taiwanese Journal of Obstetrics & Gynecology 53 (2014) 79e85 Contents lists available at ScienceDirect Taiwanese Journal of Obstetrics & Gynecology journal homepage: www.tjog-online.com Short Communication Mosaic tetrasomy 9p at amniocentesis: Prenatal diagnosis, molecular cytogenetic characterization, and literature review Chih-Ping Chen a,b,c,d,e,f,*, Liang-Kai Wang a, Schu-Rern Chern b, Peih-Shan Wu g, Yu-Ting Chen b, Yu-Ling Kuo h, Wen-Lin Chen a, Meng-Shan Lee a, Wayseen Wang b,i a Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan b Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan c Department of Biotechnology, Asia University, Taichung, Taiwan d School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan e Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan f Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan g Gene Biodesign Co. Ltd, Taipei, Taiwan h Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan i Department of Bioengineering, Tatung University, Taipei, Taiwan article info abstract Article history: Objective: This study was aimed at prenatal diagnosis of mosaic tetrasomy 9p and reviewing the Accepted 17 December 2013 literature. Materials and methods: A 37-year-old woman underwent amniocentesis at 20 weeks’ gestation because Keywords: of advanced maternal age and fetal ascites. Cytogenetic analysis of cultured amniocytes revealed 21.4% amniocentesis (6/28 colonies) mosaicism for a supernumerary i(9p). Repeat amniocentesis was performed at 23 weeks’ mosaicism gestation. Array comparative genomic hybridization, interphase fluorescence in situ hybridization, and supernumerary isochromosome 9p quantitative fluorescent polymerase chain reaction were applied to uncultured amniocytes, and con- tetrasomy 9p ventional cytogenetic analysis was applied to cultured amniocytes. -
Williams Syndrome Specialized Health Needs Interagency Collaboration
SHNIC Factsheet: Williams Syndrome Specialized Health Needs Interagency Collaboration What is it? Williams syndrome (WS) is a random genetic mutation disorder that presents at birth, affecting both boys and girls equally. WS is caused by the deletion of genetic material from a specific region of chromosome 7. This disease is characterized by an array of medical problems that can range in severity and age of onset. However, all cases are characterized by dysmorphic facial features, cardiovascular disease, and developmental delay. These disabilities occur in conjunction with striking verbal abilities, highly social personalities, and an affinity for music. What are characteristics? Heart and blood vessel problems Low muscle tone and joint laxity Reflux Dental abnormalities Hypercalcemia Developmental Delays Hearing sensitivity Characteristic facial features: Kidney problems small upturned nose Hernias wide mouth Facial characteristics full lips Chronic ear infection small chin puffiness around the eyes Suggested school accommodations Most children with Williams Syndrome have some form of learning difficulties but they can significant- ly vary. As they age, you may notice the child struggling with concepts like spatial relations, numbers and abstract reasoning. Many children with WS appear scattered in their level of abilities across do- mains. Although a child with WS may be very social, remember to monitor their support systems and social interactions as they often have a difficult time understanding social cues. Physical/Medical -
Ring Chromosome 18 in a Patient with Multiple Anomalies* CATHERINE G
J Med Genet: first published as 10.1136/jmg.4.2.117 on 1 June 1967. Downloaded from 7. med. Genet. (1967). 4, 117. Ring Chromosome 18 in a Patient with Multiple Anomalies* CATHERINE G. PALMER, NUZHAT FAREED, and A. DONALD MERRITT From the Department of Medical Genetics, Indiana University School of Medicine, Indianapolis, Indiana, U.S.A. Ring chromosomes, long of interest in cytogene- At the time of evaluation, the patient (Fig. 1) was 10 tics, have been intensively studied in corn and years old, mentally retarded, and hyperactive. He was Drosophila (McClintock, 1932, 1938; Morgan, 1933; co-operative and able to speak with a three-word syntax. Battacharya, 1950) and also described in Crepis, He had a kyphotic posture and broad-based, balanced gait. The height was 126 cm., weight 212 kg. (both Tulipa, Tradescantia, and other species. In the below the third centile). past few years, a number of reports of ring chromo- His occipital-frontal circumference was 49 cm. (two somes in man have appeared (Table I). We recently standard deviations below the normal). There was encountered a mentally retarded patient with bony roughness over the posterior occipital region. multiple congenital anomalies, in a high proportion The neck had a slight extra fold of skin over the trape- of whose cells we found a ring chromosome 18. zius muscles suggesting webbing, and there was a low The clinical expression of patients with 18 long hairline posteriorly. Ocular findings included an anti- (Lejeune, Berger, Lafourcade, and Rethore, 1966) mongoloid slant, hypertelorism, exotropia, nystagmus, and short arm deletions (Grouchy, Bonnette, and and a normal fundoscopic appearance.