Colovati Mileny E S, Bragagnolo Silvia, Guilherme Roberta S, Dantas Anelisa G, Soares Maria F, Kim Chong A, Perez Ana B A, Melaragno Maria I
Genetics Division, Department of Morphology and Genetics, Universidade Federal de Sx00E3;o Paulo, Sx00E3;o Paulo, Brazil.
Cytogenet Genome Res. 2015;147(2-3):130-4. doi: 10.1159/000444228. Epub 2016 Feb 27.
The oculo-auriculo-vertebral spectrum (OAVS) is defined as a group of malformations involving the ears, mouth, mandible, eyes, and cervical spine. Establishing an accurate clinical diagnosis of OAVS is a challenge for clinical geneticists, not only because these patients display heterogeneous phenotypes, but also because its etiology encompasses environmental factors, unknown genetic factors and different chromosome aberrations. To date, several chromosomal abnormalities have been associated with the syndrome, most frequently involving chromosome 22. In the literature, six 22q11.2 microdeletions have been described within the same region, suggesting possible OAVS candidate genes in this segment. Here, we report on a patient with an ∼581-kb 22q11.21 deletion, detected by genomic array and MLPA. This is the 7th case described with OAVS and 22q deletion, suggesting that the 22q11.2 region may be related to the regulation of body symmetry and facial development.
眼-耳-脊椎综合征（OAVS）被定义为一组涉及耳、口、下颌骨、眼和颈椎的畸形。对临床遗传学家来说，准确诊断OAVS是一项挑战，这不仅是因为这些患者表现出异质性表型，还因为其病因包括环境因素、未知遗传因素和不同的染色体畸变。迄今为止，几种染色体异常已与该综合征相关，最常见的是涉及22号染色体。在文献中，已在同一区域描述了6个22q11.2微缺失，提示该片段中可能存在OAVS候选基因。在此，我们报告1例通过基因组阵列和MLPA检测到的约581 kb的22q11.21缺失患者。这是第7例描述的伴有OAVS和22q缺失的病例，提示22q11.2区域可能与身体对称性和面部发育的调控有关。
