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Eur J Med Genet. 2012 Feb;55(2):135-9. doi: 10.1016/j.ejmg.2011.11.006. Epub 2011 Dec 3.

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

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  • 1CHU Bordeaux, Department of Medical Genetics, Bordeaux, France.

Abstract

We report on a boy presenting with features of OAVS (Oculoauriculovertebral spectrum) and carrying a 1.5 Mb microdeletion in 15q24.1q24.2. This recurrent deletion usually leads to a broad clinical spectrum but has never been found associated with features of OAVS such as ear agenesis. This observation is in accordance with OAVS being a genetically heterogeneous disorder, and points out the importance of array-CGH screening in this disorder.

Copyright © 2011 Elsevier Masson SAS. All rights reserved.

PMID:
22198201
[PubMed - indexed for MEDLINE]
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