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

Aurore Brun, Dorothée Cailley, Jérôme Toutain, Julie Bouron, Benoit Arveiler, Didier Lacombe, Cyril Goizet, Caroline Rooryck
European Journal of Medical Genetics. 2012-02-01; 55(2): 135-139
DOI: 10.1016/J.EJMG.2011.11.006

Read on PubMed

1. 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.

Brun A(1), Cailley D, Toutain J, Bouron J, Arveiler B, Lacombe D, Goizet C,
Rooryck C.

Author information:
(1)CHU Bordeaux, Department of Medical Genetics, Bordeaux, France.

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.

DOI: 10.1016/j.ejmg.2011.11.006
PMID: 22198201 [Indexed for MEDLINE]

Know more about