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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 ,能在早期为孕妇施作羊水细胞培养而诊断出威廉氏症候群
Wilhelm’s syndrome is a genetic disease with abnormal neurodevelopment. The origin of the disease is structural defects in the seventh long chromosome of the chromosome (7q11 2 3). The clinical symptoms and defects include the genes contained in the region of 15 to 20 Mb, All related to each other. Clinical manifestations have extraordinary language talent and abnormal personality traits, but retardation of intelligence, congenital cardiovascular disease (SVAS / PPS), the typical elfin-like face, strabismus and other issues. The purpose of this report is to elucidate the use of fluorescent chromosomal in situ hybridization to diagnose Wilhelm’s syndrome at early stages in amniotic fluid cultures of pregnant women