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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 407401.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease
Authors:Erdogan, F; Larsen, L A; Zhang, L; Tümer, Z; Tommerup, N; Chen, Wei; Jacobsen, J R; Schubert, M; Jurkatis, J; Tzschach, Andreas; Ropers, Hans Hilger; Ullmann, Reinhard
Language:English
Date of Publication (YYYY-MM-DD):2008-08-19
Title of Journal:Journal of Medical Genetics
Journal Abbrev.:45
Volume:11
Start Page:705
End Page:709
Copyright:Copyright © 2008 by the BMJ Publishing Group Ltd.
Review Status:not specified
Audience:Experts Only
Abstract / Description:BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects nearly 1% of newborns. The aetiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but very little is known about the impact of DNA copy number changes in non-syndromic CHD. METHOD: A sub-megabase resolution array comparative genome hybridisation (CGH) screen was carried out on 105 patients with CHD as the sole abnormality at the time of diagnosis. RESULTS: There were 18 chromosomal changes detected, which do not coincide with common DNA copy number variants, including one de novo deletion, two de novo duplications and eight familial copy number variations (one deletion and seven duplications). CONCLUSIONS: Our data show that submicroscopic deletions and duplications play an important role in the aetiology of this condition, either as direct causes or as genetic risk factors for CHD. These findings have immediate consequences for genetic counselling and should pave the way for the elucidation of the pathogenetic mechanisms underlying CHD.
Comment of the Author/Creator:Correspondence to:
Dr R Ullmann, Max Planck Institute for Molecular Genetics, Ihnestr. 73, 14195 Berlin, Germany; ullmann@molgen.mpg.de
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark;
2.Paediatric Cardiology, Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark.
Identifiers:URL:http://jmg.bmj.com/cgi/content/full/45/11/704
DOI:10.1136/jmg.2008.058776
ISSN:0022-2593
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