Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

American Journal of Medical Genetics. Part a
Caroline RooryckBenoît Arveiler

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.

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Citations

May 13, 2014·PloS One·Dina ZielinskiYaniv Erlich
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