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

doi:10.1016/j.ejmg.2011.11.006

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

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

Authors

Aurore Brun¹, Dorothée Cailley, Jérôme Toutain, Julie Bouron, Benoit Arveiler, Didier Lacombe, Cyril Goizet, Caroline Rooryck

Affiliation

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

PMID: 22198201
DOI: 10.1016/j.ejmg.2011.11.006

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Deletion*
Chromosomes, Human, Pair 15 / genetics*
Comparative Genomic Hybridization
Goldenhar Syndrome / genetics*
Humans
Male
Phenotype