Angelman综合征的诊断及其产前诊断  

Genetic diagnosis and prenatal diagnosis of Angelman syndrome

作　　者：王辉林[1] 梁德生[1] 夏艳[1] 夏纯[1] 邬玲仟[1] 

机构地区：[1]中南大学中国医学遗传学国家重点实验室、湘雅医院产前诊断中心,长沙410078

出　　处：《中华医学遗传学杂志》2009年第5期511-513,共3页Chinese Journal of Medical Genetics

基　　金：基金项目：国家自然科学基金（30571021）;国家“十一五”科技支撑项目（2006BA105A08）

摘　　要：目的对临床疑似Angelman综合征（Angelmansyndrom，AS）的患者进行诊断并对已确诊的患儿家庭行产前诊断。方法用高分辨染色体和荧光原位杂交（fluorescenceinsituhybridization，FISH）技术对患者进行检测。结果诊断出两例AS患者和一名正常胎儿。结论结合临床症状、高分辨核型分析、FISH可确诊Ⅰ型AS患者，为临床提供准确的遗传咨询和产前咨询，并可对有AS生育史的家庭行产前诊断。Objective To evaluate the conventional cytogenetie methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome （AS）. Methods High resolution G- banding karyotyping and fluorescence in situ hybridization （FISH） on metaphase chromosomes were performed. Results Two AS patients and 1 normal fetus in the family were successfully detected by FISH. Conclusion Our result demonstrated that patient with type I AS could be detected by combining the techniques of high resolution G banding and FISH with clinical observation, which would offer accurate genetic counseling information to the geneticists and provide the prenatal diagnosis for the AS family.

关 键 词：ANGELMAN综合征 染色体微缺失 产前诊断 

分 类 号：R686[医药卫生—骨科学]