台湾之威廉氏症候群(WBS)—罕见病例咨询报告

Williams-Beuren Syndrome in Taiwan-A Consulting report of Rare case

威廉氏症候群为神经发展异常之遗传疾病 ,源出于一股第七对染色体长臂 (7q11 2 3)之结构缺损所造成的 ,其临床症状和缺损 1 5～ 2 0Mb区域所含之基因 ,俱相互之关联性。临床表现有着超乎常人的语言天赋与异常友善的人格特质 ,但智力发展迟缓 ,先天性心脏血管疾病 (SVAS/PPS) ,典型的elfin -like脸型 ,眼睛斜视等问题。本报告旨在阐述利用萤光染色体原位杂交法 。

Williams-Beuren Syndrome(WBS) is a genetic syndrome of abnormal neurodevelopment characterised by a specific linguistic pattern. The deletion in chromosome (7q11.23 ) is the main disorder about WBS. A loss of genes from1.5～2.0mb in chromosome 7 become the typical syndrome. There are a typical facial dysmorphology(an elfin-like face) in Williams-Beuren Syndrome and several medical anomalies such as renal and cardiovascular abnormalities: supralvular aortic and peripheral pulmonary artery stenosis. WBS have revealed a particular facility for language. With Fluorescent in situ hybridization(FISH), can diagnose WBS at early amnio cell culture.