1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype
Aurore Brun1, Dorothée Cailley, Jérôme Toutain
1CHU Bordeaux, Department of Medical Genetics, Bordeaux, France.
European Journal of Medical Genetics
|December 27, 2011
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.
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