Array-CGH Analysis of a Cohort of 86 Patients With Oculoauriculovertebral Spectrum
Am. J. Med. Genet.. 2010-07-15; 152A(8): 1984-1989
DOI: 10.1002/AJMG.A.33491
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1. Am J Med Genet A. 2010 Aug;152A(8):1984-9. doi: 10.1002/ajmg.a.33491.
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral
spectrum.
Rooryck C(1), Souakri N, Cailley D, Bouron J, Goizet C, Delrue MA, Marlin S,
Lacombe FD, Arveiler B.
Author information:
(1)Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux
2, Bordeaux, France.
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.
DOI: 10.1002/ajmg.a.33491
PMID: 20635336 [Indexed for MEDLINE]