Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
- 20 July 2010
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 152A (8), 1984-1989
- https://doi.org/10.1002/ajmg.a.33491
Abstract
Oculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array-CGH on 86 OAVS patients and identified in 11 patients 12 novel genomic rearrangements (4 deletions and 8 duplications) ranging in size from 2.7 kb to 2.3 Mb. We discuss the potential pathogenic role of these chromosomal aberrations, and describe new candidate regions for OAVS.Keywords
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