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. 2010 Aug;152A(8):1984-9.
doi: 10.1002/ajmg.a.33491.

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

Caroline Rooryck  1 , Noui Souakri, Dorothée Cailley, Julie Bouron, Cyril Goizet, Marie-Ange Delrue, Sandrine Marlin, Feclad Didier Lacombe, Benoît Arveiler
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Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

Caroline Rooryck et al. Am J Med Genet A. 2010 Aug.

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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