Journal
JOURNAL OF APPLIED GENETICS
Volume 55, Issue 1, Pages 125-144Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s13353-013-0181-x
Keywords
Copy-number variation; Microdeletion; Microduplication; Chromosomal microarray analysis
Funding
- Polish Ministry of Science and Higher Education [R13-0005-04/2008]
- Foundation for Polish Science
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We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.
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