Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
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2008
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7
pages
English
Documents
2008
Obtenez un accès à la bibliothèque pour le consulter en ligne En savoir plus
Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 10 6 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel syndrome, i.e. der(22)t(11;22)(q23;q11), only few so-called complex sSMC are reported. Results Here we report three new cases of unique complex sSMC. One was a de novo case with a dic(13 or 21;22) and two were maternally derived: a der(18)t(8;18) and a der(13 or 21)t(13 or 21;18). Thus, in summary, now 22 cases of unique complex sSMC are available in the literature. However, this special kind of sSMC might be under-diagnosed among sSMC-carriers. Conclusion More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only ~0.9% among all sSMC.
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Molecular Cytogenetics
BioMedCentral
Open Access Research Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? 1,2 3 4 5 Vladimir Trifonov , Simon Fluri , Franz Binkert , Adayapalam Nandini , 6 7 2 2 Jasen Anderson , Laura Rodriguez , Madeleine Gross , Nadezda Kosyakova , 2 2 2 2 Hasmik Mkrtchyan , Elisabeth Ewers , Daniela Reich , Anja Weise and 2 Thomas Liehr*
1 2 Address: Department of Clinical Veterinary Medicine, Madingley Road, Cambridge, CB3 OES, UK, Institut für Humangenetik und 3 4 Anthropologie, Kollegiengasse 10, D07743 Jena, Germany, Universitätskinderklinik, Inselspital, CH3010 Bern, Switzerland, MCL 5 Medizinische Laboratorien, Freiburgstr 634, 3127 Niederwangen, Switzerland, Department of Cytogenetics, Queensland Health Pathology 6 Services, Herston QLD 4029, Queensland, Australia, Department of Cytogenetics, Sullivan Nicolaides Pathology, Taringa QLD, Australia and 7 Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) del Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
Email: Vladimir Trifonov vlad@bionet.nsc.ru; Simon Fluri bif@mcl.ch; Franz Binkert bif@mcl.ch; Adayapalam Nandini Adayapalam_Nandini@health.qld.gov.au; Jasen Anderson Jasen_Anderson@snp.com.au; Laura Rodriguez laura@isciii.es; Madeleine Gross mgross@mti.unijena.de; Nadezda Kosyakova Nadezda.Kosyakova@mti.unijena.de; Hasmik Mkrtchyan Hasmik.Mkrtchyan@mti.unijena.de; Elisabeth Ewers Elisabeth.Ewes@mti.unijena.de; Daniela Reich Daniela.Reich@mti.unijena.de; Anja Weise aweise@mti.unijena.de; Thomas Liehr* i8lith@mti.unijena.de * Corresponding author
Published: 15 April 2008 Received: 20 November 2007 Accepted: 15 April 2008 Molecular Cytogenetics2008,1:6 doi:10.1186/1755816616 This article is available from: http://www.molecularcytogenetics.org/content/1/1/6 © 2008 Trifonov et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract 6 Background:humanSmall supernumerary marker chromosomes (sSMC) are present ~2.6 × 10 worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel syndrome, i.e. der(22)t(11;22)(q23;q11), only few socalled complex sSMC are reported.
Results:Here we report three new cases of unique complex sSMC. One was ade novocase with a dic(13 or 21;22) and two were maternally derived: a der(18)t(8;18) and a der(13 or 21)t(13 or 21;18). Thus, in summary, now 22 cases of unique complex sSMC are available in the literature. However, this special kind of sSMC might be underdiagnosed among sSMCcarriers.
Conclusion:More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array CGH) might identify them to be more frequent than only ~0.9% among all sSMC.
Background Small supernumerary marker chromosomes (sSMC) are a major problem in cytogenetic diagnostics and genetic counseling. sSMC are structurally abnormal chromo somes that cannot be identified or characterized unam
biguously by conventional banding cytogenetics alone, and are generally about the size of or smaller than a chro mosome 20 in the same metaphase spread. Molecular cytogenetic techniques are necessary for comprehensive sSMC characterization [1]. Cases with ade novosSMC, par
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