DOCSLIB.ORG

Chapter 4. Subtelomeric Deletions and Duplications in Indonesian ID Population

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Chapter 4. Subtelomeric Deletions and Duplications in Indonesian ID Population 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/2066/105789 Please be advised that this information was generated on 2021-10-01 and may be subject to change. Genetic-Diagnostic Surve y in Intellectually Disabled Individuals from Institutes and Special Schools in Java, Indonesia Genetic-Diagnostic Survey in Intellectually Disabled Individuals from Institutes and Special Schools Farmaditya EP Mundho in Java, Indonesia 978-90-9027320-4 Farmaditya EP Mundhofir ISBN: 978-90-9027320-4 fir Genetic-Diagnostic Survey in Intellectually Disabled Individuals from Institutes and Special Schools in Java, Indonesia Farmaditya EP Mundhofir Genetic-Diagnostic Survey in Intellectually Disabled Individuals from Institutes and Special Schools in Java, Indonesia The studies presented in this thesis are partly funded by RISBIN-IPTEKDOK 2007/2008 program of the Ministry of Health, Republic of Indonesia; Excellent Scholarship (Beasiswa Unggulan), Overseas Study Scholarship (Beasiswa Luar Negeri) of the Directorate General of Higher Education (DGHE) Ministry of Education and Culture Republic of Indonesia and the PhD-fellowship of the Radboud University (RU-fellowship). ISBN/EAN 978-90-9027320-4 © 2013 F.E.P. Mundhofir No part of this publication may be reproduced, stored in a retrieval system or transmitted in any form or by any means electronic, mechanical, photocopying, recording or otherwise, without the prior written permission of the author. Cover design : FEP Mundhofir Image by : Wardah and Atria from Sekolah Luar Biasa Negeri (State Special School for Intellectual Disability), Semarang, Indonesia Book layout : FEP Mundhofir Graphic design : FEP Mundhofir Printed by : Jentera Int, Yogyakarta, Indonesia Genetic-Diagnostic Survey in Intellectually Disabled Individuals from Institutes and Special Schools in Java, Indonesia Proefschrift ter verkrijging van de graad van 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 woensdag 20 februari 2013 om 10.30 uur precies door Farmaditya Eka Putra Mundhofir geboren op 25 April 1981 te Jepara, Indonesië Promotoren: Prof. dr. B.C.J. Hamel Mw. prof. dr. S.M.H. Faradz (Universitas Diponegoro, Semarang, Indonesië) Copromotor: Mw. dr. H.G. IJntema Manuscript commissie: Mw. prof. dr. H.M.J van Schrojenstein Lantman – De Valk (voorzitter) Prof. dr. M.A.A.P Willemsen Dr. E.A. Sistermans (Vrije Universiteit, Amsterdam) Genetic-Diagnostic Survey in Intellectually Disabled Individuals from Institutes and Special Schools in Java, Indonesia Doctoral Thesis to obtain the degree of doctor from the Radboud University Nijmegen, on the authority of the Rector Magnificus prof. dr. S.C.J.J. Kortmann, according to the decision of the Council of Deans to be defended in public on February, 20th 2013 at 10.30 hours by Farmaditya Eka Putra Mundhofir Born on April 25, 1981 In Jepara, Indonesia Supervisors: Prof. dr. B.C.J. Hamel Prof. dr. S.M.H. Faradz (Diponegoro University, Semarang, Indonesia) Co-supervisor: Dr. H.G. IJntema Doctoral thesis committee: Prof. dr. H.M.J. van Schrojenstein Lantman - de Valk (chair) Prof. dr. M.A.A.P. Willemsen Dr. E.A. Sistermans (VU University, Amsterdam) A Tribute to My Mother Contents Table of contents List of abbreviations 9 Chapter 1. General introduction, materials and methods, aims and 10 outline of the thesis Chapter 2. Cytogenetic abnormalities in Indonesian ID population 57 A cytogenetic study in a large population of intellectually disabled Indonesians Chapter 3. Fragile-X syndrome in Indonesian ID population 71 Prevalence of Fragile X syndrome in males and females in Indonesia Chapter 4. Subtelomeric deletions and duplications in Indonesian 89 ID population Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion Chapter 5. The aetiology in a subgroup of ID individuals suspected 117 of having a specific syndrome Mowat–Wilson syndrome: The first clinical and molecular report of an Indonesian patient Molecular analyses on Indonesian individuals with intellectual disability and microcephaly Chapter 6. General discussion and the establishment of a 139 diagnostic protocol for the Indonesian setting Chapter 7 Samenvatting / Summary / Intisari 161 Acknowledgments 167 List of publications 169 Curriculum vitae 170 Appendix 171 Abbreviations List of abbreviations AAIDD American Association on Intellectual and Development Disabilities ADHD Attention deficit hyperactivity disorder ADID Autosomal dominant ID APA American Psychiatric Association APGAR Appearance (skin color), Pulse (heart rate), Grimace (reflex irritability), Activity (muscle tone), and Respiration ARID Autosomal recessive ID ASHG American Society of Human Genetics BAC Bacterial artificial chromosome bp Base pair BP Breakpoint CD Cognitive Disorders CDC United States of America Centers for Disease Control and Prevention CEBIOR Center for Biomedical Research CGH Comparative genome hybridization CMA Chromosomal micro array CNV Copy number variation DD Developmental delay DECIPHER Database of chromosomal imbalance and phenotype in humans using Ensembl Resources DGV Database of Genomic Variants DNA Deoxyribonucleic acid DSM Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR Diagnostic and Statistical Manual of Mental Disorders IV Text Revision ECARUCA European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations EDTA Ethylenediaminetetraacetic acid ESHG European Society of Human Genetics FISH Fluorescence in situ Hybridization FoSTes Fork stalling and template switching FXS Fragile-X syndrome HC Head circumference ICBS Indonesian Central Bureau of Statistics ICD International Classification of Diseases ICD Inner canthal distance ICF International Classification of Functioning, Disability and Health ID Intellectual disability IDD Intellectual developmental disorder IEMs Inborn errors of metabolisms 9 Abbreviations IPD Inter pupillary distance IQ Intelligence quotient ISCA International Standard Cytogenomic Array ISS Idiopathic short stature kb Kilobase (thousand base pairs) LWD Leri-Weill Dyschondrosteosis Mb Megabase (million base pairs) MCA Multiple congenital anomalies MLPA Multiplex Ligation-dependent Probe Amplification MODY Maturity-onset diabetes of the young MPS Massive parallel sequencing MR Mental retardation MWS Mowat–Wilson syndrome NAHR Non-allelic homologous recombination NGS Next generation sequencing NHEJ Non-homologous end joining NS-XLID Non syndromic XLID OCD Outer canthal distance OFC Occipital frontal circumference PAR Pseudo autosomal region PCR Polymerase chain reaction PL Palm length PW/AS Prader-Willi/Angelman syndrome qPCR qualitative Polymerase Chain Reaction RUNMC Radboud University Nijmegen Medical Centre SD Standard deviation SNP Single nucleotide polymorphism SNV Single nucleotide variant SRQ Self-reporting questionnaire SSM Slipped strand mispairing THL Total hand length UPD Uniparental disomy UV Unclassified variants WES Whole exome sequencing WHO World Health Organization WHSCR Wolf–Hirschhorn syndrome critical region XCI X-chromosome inactivation XLID X-linked intellectual disability 10 Chapter 1 General introduction, materials and methods, aims and outline of the thesis 1.1 General introduction 1 1.1.1 Definition, classification and epidemiology of intellectual disability (ID) 1.1.2 Aetiology of intellectual disability 1.1.3 Genetic causes of intellectual disability 1.1.4 Neurobiology of genetically based intellectual disability 1.1.5 Indonesia as a field of study 1.2 Materials and methods 1.2.1 Selection of patients and general procedures 1.2.2 Standardized clinical examination 1.2.3 Cytogenetic and molecular investigations 1.2.4 Ethical consideration 1.3 Aims and outline of the thesis General introduction and outline of the thesis 1.1. General introduction 1.1.1 Definition, classification and epidemiology of intellectual disability (ID) Intellectual disability (ID) is a lifelong disability with major impact on individuals’ lives and their families, and is a prevalent disorder worldwide. It has been estimated that the lifetime cost for medical care of a child born with an ID in the United States is roughly as high as US$ 80.000 (Patel et al., 2010; PCPID, 2012). In Indonesia, the lifetime cost of people with ID is not known yet. However, in 2010 the amount of Rp. 3,627 billion (approximately USD 416 million) was allocated from a state budget for people with disability (Irwanto et al., 2010). Having estimated that ID is ~12% of the population of people with disability (Marjuki, 2010; Irwanto et al., 2010), the Indonesian yearly budget for taking care of people with ID is about USD 50 million. The high cost of ID is not only a burden for the society, but for the families as well (Doran et al., 2012). The burden could even get worse if ID is compounded with other disorders, as individuals with ID are at greater risk of developing secondary health problems (Maiano, 2011). Some reports highlighted the existence of co- morbidity of ID and other conditions such as mental disorders and obesity (Einfeld et al., 2011; Maiano, 2011). The terminology to describe ID has changed from idiocy, feeble
Load more

Recommended publications
  • Whole Chromosome Gain Does Not in Itself Confer Cancer-Like Chromosomal Instability
    Whole chromosome gain does not in itself confer cancer-like chromosomal instability Anders Valinda,1, Yuesheng Jina, Bo Baldetorpb, and David Gisselssona aDepartment of Clinical Genetics, Lund University, University and Regional Laboratories, Biomedical Center B13, Lund SE22184, Sweden; and bDepartment of Oncology, Lund University, Skåne University Hospital, Lund SE22185, Sweden Edited* by George Klein, Karolinska Institutet, Stockholm, Sweden, and approved November 4, 2013 (received for review June 12, 2013) Constitutional aneuploidy is typically caused by a single-event and chromosomal instability in humans is using constitutional meiotic or early mitotic error. In contrast, somatic aneuploidy, aneuploidy syndromes as a model. Cells from patients with these found mainly in neoplastic tissue, is attributed to continuous syndromes provide a good experimental system for studying the chromosomal instability. More debated as a cause of aneuploidy effects of aneuploidy on overall genome stability on representative is aneuploidy itself; that is, whether aneuploidy per se causes human material. Such cells typically only have a single or a limited chromosomal instability, for example, in patients with inborn set of stem-line chromosome aberrations compared with tumor aneuploidy. We have addressed this issue by quantifying the level cell lines, which typically harbor a multitude of genetic lesions, as of somatic mosaicism, a proxy marker of chromosomal instability, well as a cancer phenotype. The few earlier studies performed on in patients with
    [Show full text]
  • Downloaded from [266]
    Patterns of DNA methylation on the human X chromosome and use in analyzing X-chromosome inactivation by Allison Marie Cotton B.Sc., The University of Guelph, 2005 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY in The Faculty of Graduate Studies (Medical Genetics) THE UNIVERSITY OF BRITISH COLUMBIA (Vancouver) January 2012 © Allison Marie Cotton, 2012 Abstract The process of X-chromosome inactivation achieves dosage compensation between mammalian males and females. In females one X chromosome is transcriptionally silenced through a variety of epigenetic modifications including DNA methylation. Most X-linked genes are subject to X-chromosome inactivation and only expressed from the active X chromosome. On the inactive X chromosome, the CpG island promoters of genes subject to X-chromosome inactivation are methylated in their promoter regions, while genes which escape from X- chromosome inactivation have unmethylated CpG island promoters on both the active and inactive X chromosomes. The first objective of this thesis was to determine if the DNA methylation of CpG island promoters could be used to accurately predict X chromosome inactivation status. The second objective was to use DNA methylation to predict X-chromosome inactivation status in a variety of tissues. A comparison of blood, muscle, kidney and neural tissues revealed tissue-specific X-chromosome inactivation, in which 12% of genes escaped from X-chromosome inactivation in some, but not all, tissues. X-linked DNA methylation analysis of placental tissues predicted four times higher escape from X-chromosome inactivation than in any other tissue. Despite the hypomethylation of repetitive elements on both the X chromosome and the autosomes, no changes were detected in the frequency or intensity of placental Cot-1 holes.
    [Show full text]
  • Experiment 1: Linkage Mapping in Drosophila Melanogaster
    BIO 184 Laboratory Manual Page 1 CSU, Sacramento Updated: 9/1/2004 EXPERIMENT 1: LINKAGE MAPPING IN DROSOPHILA MELANOGASTER DAY ONE: INTRODUCTION TO DROSOPHILA OBJECTIVES: Today's laboratory will introduce you the common fruit fly, Drosophila melanogaster, as an experimental organism and prepare you for setting up a mating experiment during the next lab period. After today’s experiment you should be able to: Properly anesthetize and handle Drosophila. Properly adjust a stereo dissecting scope and light source for optimal viewing of Drosophila. Distinguish males and females, and have a record for your own reference. Distinguish wild-type from mutant characteristics and have a record for your own reference. Understand the meaning of “single, double, triple, and multiple mutants.” Be familiar with symbols for mutant and wild-type alleles used by Drosophila geneticists. INTRODUCTION: Drosophila melanogaster is used extensively in genetic breeding experiments. It is an ideal testing organism for geneticists because it has a short life cycle, exhibits great variability in inherited characteristics, and may be conveniently raised in the laboratory to produce large numbers of offspring. Drosophila can be used in genetic crosses to demonstrate Mendelian inheritance as well as the unusual inheritance of genes located on the X chromosome (“sex linkage”). The organism is also useful for demonstrating the principles of genetic mapping, which you will be exploring in this first experiment. To do this, you will be performing a cross with real flies to demonstrate the principles behind genetic mapping. Your success in these experiments will depend greatly on your ability to properly handle the flies and to accurately observe their characteristics.
    [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]
  • Identification of Novel Genes for X-Linked Mental Retardation
    20.\o. ldent¡f¡cat¡on of Novel Genes for X-linked Mental Retardation Adelaide A thesis submitted for the degree of Dootor of Philosophy to the University of by Marie Mangelsdorf BSc (Hons) School ofMedicine Department of Paediatrics, Women's and Children's Hospital May 2003 Corrections The following references should be referred to in the text as: Page 2,line 2: (Birch et al., 1970) Page 2,line 2: (Moser et al., 1983) Page 3, line 15: (Martin and Bell, 1943) Page 3, line 4 and line 9: (Stevenson et a1.,2000) Page 77,line 5: (Monaco et a|.,1986) And in the reference list as: Birch H. G., Richardson S. ,{., Baird D., Horobin, G. and Ilsley, R. (1970) Mental Subnormality in the Community: A Clinical and Epidemiological Study. Williams and Wilkins, Baltimore. Martin J. P. and Bell J. (1943). A pedigree of mental defect showing sex-linkage . J. Neurol. Psychiatry 6: 154. Monaco 4.P., Nerve R.L., Colletti-Feener C., Bertelson C.J., Kurnit D.M. and Kunkel L.M. (1986) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 3232 646-650. Moser H.W., Ramey C.T. and Leonard C.O. (1933) In Principles and Practice of Medical Genetics (Emery A.E.H. and Rimoin D.L., Eds). Churchill Livingstone, Edinburgh UK Penrose L. (1938) A clinical and genetic study of 1280 cases of mental defect. (The Colchester survey). Medical Research Council, London, UK. Stevenson R.E., Schwartz C.E. and Schroer R.J. (2000) X-linked Mental Retardation. Oxford University Press.
    [Show full text]
  • Choroideremia* Clinical and Genetic Aspects by Arnold Sorsby, A
    Br J Ophthalmol: first published as 10.1136/bjo.36.10.547 on 1 October 1952. Downloaded from Brit. J. Ophthal. (1952) 36, 547. CHOROIDEREMIA* CLINICAL AND GENETIC ASPECTS BY ARNOLD SORSBY, A. FRANCESCHETTI, RUBY JOSEPH, AND J. B. DAVEY Review of Literature (1) HISTORICAL.-In the fully-developed state, choroideremia presents a characteristic and unmistakable picture of which Fig. 1 and Colour Plate 1(a and b) may be taken as examples. The almost total lack of choroidal vessels strongly suggests a developmental anomaly. In fact most of the early writers on, the subject, such as Mauthner (1872) and Koenig (1874), stressed the likeness to choroidal coloboma. As cases accumulated, less extreme pictures were observed, and these raised the possibility that choroideremia was a progressive affection and not a congenital anomaly-a view that gained some support from the fact that, apart from showing some choroidal vessels, these less extreme cases also showed pigmentary changes, sometimes reminiscent of retinitis pigmentosa (Zorn, 1920; Beckershaus, 1926; Werkle, 1931). copyright. Furthermore, the recognition of gyrate atrophy as a separate entity (Cutler, 1895) fitted in well with such a reading. The patches of atrophy seen in that affection could well be visualized as an early stage of the generalized atrophy seen in choroideremia, and since there was some evidence that gyrate atrophy was itself a variant of retinitis pigmentosa-for the affection is reputed to have been observed in families diagnosed as suffering from retinitis pigmentosa (see Usher, 1935)-the suggestion emerged that choroideremia, far from being a congenital stationary affection, was an http://bjo.bmj.com/ extreme variant of retinitis pigmentosa.
    [Show full text]
  • Double Aneuploidy in Down Syndrome
    Chapter 6 Double Aneuploidy in Down Syndrome Fatma Soylemez Additional information is available at the end of the chapter http://dx.doi.org/10.5772/60438 Abstract Aneuploidy is the second most important category of chromosome mutations relat‐ ing to abnormal chromosome number. It generally arises by nondisjunction at ei‐ ther the first or second meiotic division. However, the existence of two chromosomal abnormalities involving both autosomal and sex chromosomes in the same individual is relatively a rare phenomenon. The underlying mechanism in‐ volved in the formation of double aneuploidy is not well understood. Parental ori‐ gin is studied only in a small number of cases and both nondisjunctions occurring in a single parent is an extremely rare event. This chapter reviews the characteristics of double aneuploidies in Down syndrome have been discussed in the light of the published reports. Keywords: Double aneuploidy, Down Syndrome, Klinefelter Syndrome, Chromo‐ some abnormalities 1. Introduction With the discovery in 1956 that the correct chromosome number in humans is 46, the new area of clinical cytogenetic began its rapid growth. Several major chromosomal syndromes with altered numbers of chromosomes were reported, such as Down syndrome (trisomy 21), Turner syndrome (45,X) and Klinefelter syndrome (47,XXY). Since then it has been well established that chromosome abnormalities contribute significantly to genetic disease resulting in reproductive loss, infertility, stillbirths, congenital anomalies, abnormal sexual development, mental retardation and pathogenesis of malignancy [1]. Clinical features of patients with common autosomal or sex chromosome aneuploidy is shown in Table 1. © 2015 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
    [Show full text]
  • The Combined Test
    Antenatal Screening Antenatal Screening for Down's syndrome, Edwards syndrome and Patau syndrome The Combined Test Questions and Answers for women considering the test The Wolfson Institute of Preventive Medicine Barts and The London School of Medicine and Dentistry Antenatal Screening This leaflet answers some of the common questions women ask about their screening test – we hope you find it helpful. You are welcome to discuss the test with your midwife or consultant before you decide whether you would like to be screened. If you have any further questions screening staff at the Wolfson Institute are available to talk to you on 020 7882 6293. What is Down's syndrome? What are Edwards and Patau syndrome? Down's syndrome (trisomy 21) is Edwards syndrome (trisomy 18) is defined by the presence of an extra defined by the presence of an extra chromosome number 21 in the cells chromosome number 18 in the cells of the fetus or affected individual. In of the fetus or affected individual an unscreened population about 1 in while Patau syndrome (trisomy 13) every 500 babies is born with Down's is defined by an extra chromosome syndrome. Usually it is not inherited number 13 in the cells of the fetus or and so a baby can be affected affected individual. Both syndromes even if there is no history of Down's affect multiple organs with a high risk syndrome in the family. of fetal death. Down's syndrome is the most At 12 weeks of pregnancy Edwards common cause of severe learning syndrome has a prevalence of about disability and is often associated 1 in 1,500 and Patau syndrome has a with physical problems such as heart prevalence of about 1 in 3,500 in an defects and difficulties with sight and unscreened population.
    [Show full text]
  • Chromosomes in the Clinic: the Visual Localization and Analysis of Genetic Disease in the Human Genome
    University of Pennsylvania ScholarlyCommons Publicly Accessible Penn Dissertations 2013 Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome Andrew Joseph Hogan University of Pennsylvania, [email protected] Follow this and additional works at: https://repository.upenn.edu/edissertations Part of the History of Science, Technology, and Medicine Commons Recommended Citation Hogan, Andrew Joseph, "Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome" (2013). Publicly Accessible Penn Dissertations. 873. https://repository.upenn.edu/edissertations/873 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/edissertations/873 For more information, please contact [email protected]. Chromosomes in the Clinic: The Visual Localization and Analysis of Genetic Disease in the Human Genome Abstract This dissertation examines the visual cultures of postwar biomedicine, with a particular focus on how various techniques, conventions, and professional norms have shaped the `look', classification, diagnosis, and understanding of genetic diseases. Many scholars have previously highlighted the `informational' approaches of postwar genetics, which treat the human genome as an expansive data set comprised of three billion DNA nucleotides. Since the 1950s however, clinicians and genetics researchers have largely interacted with the human genome at the microscopically visible level of chromosomes. Mindful of this, my dissertation examines
    [Show full text]
  • Congenital Heart Disease and Chromossomopathies Detected By
    Review Article DOI: 10.1590/0103-0582201432213213 Congenital heart disease and chromossomopathies detected by the karyotype Cardiopatias congênitas e cromossomopatias detectadas por meio do cariótipo Cardiopatías congénitas y anomalías cromosómicas detectadas mediante cariotipo Patrícia Trevisan1, Rafael Fabiano M. Rosa2, Dayane Bohn Koshiyama1, Tatiana Diehl Zen1, Giorgio Adriano Paskulin1, Paulo Ricardo G. Zen1 ABSTRACT Conclusions: Despite all the progress made in recent de- cades in the field of cytogenetic, the karyotype remains an es- Objective: To review the relationship between congenital sential tool in order to evaluate patients with congenital heart heart defects and chromosomal abnormalities detected by disease. The detailed dysmorphological physical examination the karyotype. is of great importance to indicate the need of a karyotype. Data sources: Scientific articles were searched in MED- LINE database, using the descriptors “karyotype” OR Key-words: heart defects, congenital; karyotype; Down “chromosomal” OR “chromosome” AND “heart defects, syndrome; trisomy; chromosome aberrations. congenital”. The research was limited to articles published in English from 1980 on. RESUMO Data synthesis: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood Objetivo: Realizar uma revisão da literatura sobre a group of lesions. Several researchers have evaluated the pres- relação das cardiopatias congênitas com anormalidades ence of chromosomal abnormalities detected by the karyo- cromossômicas detectadas por meio do exame de cariótipo. type in patients with congenital heart disease. However, Fontes de dados: Pesquisaram-se artigos científicos no most of the articles were retrospective studies developed in portal MEDLINE, utilizando-se os descritores “karyotype” Europe and only some of the studied patients had a karyo- OR “chromosomal” OR “chromosome” AND “heart defects, type exam.
    [Show full text]
  • 7.013 S18 Recitation 5
    7.013: Spring 2018: MIT 7.013 Recitation 5 – Spring 2018 (Note: The recitation summary should NOT be regarded as the substitute for lectures) Summary of Lecture 6 (2/23): Classic experiment by Morgan that laid the foundation of human genetics: Morgan identified a gene located on the X chromosome that controls eye color in fruit flies. Since females have XX as their sex chromosomes, they have two alleles of each gene located on the X chromosome. In comparison, males have XY as their sex chromosomes and will only have one allele for all the genes located on the X chromosome (i.e. they are hemizygous). Morgan designed a mating experiment between a homozygous recessive female fly with white eyes (genotype XwXw) with a normal male fly with red eyes (genotype X+Y) and obtained red-eyed females (genotype XwX+) and white-eyed male flies (genotype XwY). This proved that white-eye color is a recessive trait and the allele regulating the eye color is located on the X- chromosome (i.e. eye color in flies shows an X- linked recessive mode of inheritance). You can read through the original article (link below) if interested! http://www.nature.com/scitable/topicpage/thomas-hunt-morgan-and-sex-linkage-452 Pedigrees: A pedigree shows how a trait runs through a family. A person displaying the trait is indicated by a filled in circle (female) or square (male). Simple human traits that are determined by a single gene display one of six different modes of inheritance: autosomal dominant, autosomal recessive, X-linked dominant or X-linked recessive, Y- linked recessive or dominant and mitochondrial inheritance (which is always passed on from the mother to all her children).
    [Show full text]
  • Linkage Groups of Protein-Coding Genes in Western Palearctic Water Frogs Reveal Extensive Evolutionary Conservation
    Copyright 0 1997 by the Genetics Society of America Linkage Groups of Protein-Coding Genes in Western Palearctic Water Frogs Reveal Extensive Evolutionary Conservation Hansjiirg Hotz,* Thomas Uzzellt and Leszek Berger: * Zoologisches Museum, Universitat Zurich-Irchel, CH-8057 Zurich, Switzerland, tAcademy of Natural Sciences, Philadelphia, Pennsylvania 19103 and $Research Centrefor Agricultural and Forest Environment, Polish Academy of Sciences, PL-60-809 Poznali, Poland Manuscript received October 14, 1996 Accepted for publication April 21, 1997 ABSTRACT Among progeny of a hybrid (Rana shqiperica X R. lessonae) X R lessonae, 14 of 22 loci form four linkage groups (LGs) : (1) mitochondrialaspartate aminotransferase, carbonate dehydratase-2, esterase 4, peptidase 0; (2) mannosephosphate isomerase, lactate dehydrogenase-B, sex, hexokinase-1, peptidase B; (3) albumin, fructose- biphosphatase-1, guanine deaminase; (4) mitochondrial superoxide dismutase, cytosolic malic enzyme, xanthine oxidase. Fructose-biphosphate aldolase-2 and cytosolic aspartate aminotransferase possibly form a fifth LG. Mito- chondrial aconitatehydratase, a-glucosidase, glyceraldehyde-3+hosphate dehydrogenase, phosphogluconate dehydroge- nase, and phosphoglucomutase-2 are unlinked to other loci. All testable linkages (among eightloci of LGs 1, 2, 3, and 4) are shared with eastern Palearctic water frogs. Including published data, 44 protein loci can be assigned to 10 of the 13 chromosomes in Holarctic Rana. Of testable pairs among 18 protein loci, agreementbetween Palearctic andNearctic Rana is complete (125 unlinked,14 linked pairs among 14 loci of five syntenies), and Holarctic Rana and Xenopus laevis are highly concordant (125 shared nonlinkages, 13 shared linkages, three differences). Several Rana syntenies occur in mammals and fish. Many syntenies apparentlyhave persisted for 60-140 X lo6years (frogs), some even for 350-400 X lo6 years (mammals and teleosts).
    [Show full text]