一名具有轻度眼-耳-脊椎综合征（OAVS）表型的患者，其15号染色体长臂24区存在1.5兆碱基的微缺失。
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
作者信息
Brun Aurore, Cailley Dorothée, Toutain Jérôme, Bouron Julie, Arveiler Benoit, Lacombe Didier, Goizet Cyril, Rooryck Caroline
机构信息
CHU Bordeaux, Department of Medical Genetics, Bordeaux, France.
出版信息
Eur J Med Genet. 2012 Feb;55(2):135-9. doi: 10.1016/j.ejmg.2011.11.006. Epub 2011 Dec 3.
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.
我们报告了一名患有眼耳脊椎综合征（Oculoauriculovertebral spectrum，OAVS）特征且在15q24.1q24.2区域存在1.5 Mb微缺失的男孩。这种反复出现的缺失通常会导致广泛的临床症状谱，但从未发现与诸如耳发育不全等OAVS特征相关。这一观察结果与OAVS是一种基因异质性疾病相符，并指出了在该疾病中进行阵列比较基因组杂交（array-CGH）筛查的重要性。
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