Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814303 | European Journal of Medical Genetics | 2012 | 5 Pages |
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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Authors
Aurore Brun, Dorothée Cailley, Jérôme Toutain, Julie Bouron, Benoit Arveiler, Didier Lacombe, Cyril Goizet, Caroline Rooryck,