title: 1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
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.
authors.affiliation: CHU Bordeaux, Department of Medical Genetics, Bordeaux, France.
authors.forename: Aurore
authors.initials: A
authors.lastname: Brun
authors.forename: Dorothée
authors.initials: D
authors.lastname: Cailley
authors.forename: Jérôme
authors.initials: J
authors.lastname: Toutain
authors.forename: Julie
authors.initials: J
authors.lastname: Bouron
authors.forename: Benoit
authors.initials: B
authors.lastname: Arveiler
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
mesh_terms: D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D006053:Goldenhar Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype