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Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2010 Mar-Apr; Vol. 53 (2), pp. 66-75. Date of Electronic Publication: 2009 Oct 28. - Publication Year :
- 2010
-
Abstract
- Array-CGH has revealed a large number of copy number variations (CNVs) in patients with multiple congenital anomalies and/or mental retardation (MCA/MR). According to criteria recently listed, pathogenicity was clearly suspected for some CNVs but benign CNVs, considered as polymorphisms, have complicated the interpretation of the results. In this study, genomic DNAs from 132 French patients with unexplained mental retardation were analysed by genome wide high-resolution Agilent 44K oligonucleotide arrays. The results were in accordance with those observed in previous studies: the detection rate of pathogenic CNVs was 14.4%. A non-random involvement of several chromosomal regions was observed. Some of the microimbalances recurrently involved regions (1q21.1, 2q23.1, 2q32q33, 7p13, 17p13.3, 17p11.2, 17q21.31) corresponding to known or novel syndromes. For all the pathogenic CNVs, further cases are needed to allow more accurate genotype-phenotype correlations underscoring the importance of databases to group patients with similar molecular data.<br /> (Copyright 2009 Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Chromosome Mapping
Facies
Female
France
Genome, Human
Humans
In Situ Hybridization, Fluorescence
Male
Oligonucleotide Array Sequence Analysis
Oligonucleotides genetics
Reproducibility of Results
Syndrome
Comparative Genomic Hybridization
Gene Dosage
Genetic Variation
Intellectual Disability genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 53
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 19878743
- Full Text :
- https://doi.org/10.1016/j.ejmg.2009.10.002