Abstract: Prader-Willi syndrome (PWS) is a genomic imprinting defective disorder associated with chromosome 15q11-q3 region. Morbid obesity and its complications, as well as prominent cognitive and behavioral problems have brought huge medical and economic burden to PWS patients, their family and the society. PWS has been recognized in the neonatal period by severe hypotonia and feeding difficulties. In recent years, rapid developments in molecular genetics provide technological support for the diagnosis and genetic typing of PWS. Early diagnosis and management can largely improve the long-term outcome for patients with PWS.

Key words: Prader-Willi syndrome, imprinting defect, hypotonia, diagnosis, intervention

摘要： Prader-Willi综合征(PWS)是一种与染色体15q11-q13区域相关的基因组印迹缺陷性疾病。患者病态性肥胖及其相关并发症以及突出的认知和行为问题给患者个人、家庭及社会带来了巨大的医疗和经济负担。目前PWS在新生儿时期因为严重的肌张力低下和喂养困难得以识别,而近年来分子遗传学的迅猛发展为该病的确诊和遗传分型提供了有力的技术支持。早期诊断和合理干预可以在极大程度上改善该病患儿的远期预后。

关键词: Prader-Willi综合征, 印迹缺陷, 肌张力低下, 诊断, 干预