Prader-Willi syndrome
Prader-Willi syndrome
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DOI：
10.1136/jmg.34.11.917
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发表时间：
1997-11-01
影响因子：
4
通讯作者：
Cassidy, SB
中科院分区：
文献类型：
--
作者：
Cassidy, SB
Prader-Willi综合征是一种影响多系统的复杂疾病，有许多表现-与下丘脑功能不全有关。主要发现包括婴儿张力减退、发育迟缓和智力迟钝、行为障碍、特征性面部外观、肥胖、性腺功能减退和身材矮小。肥胖和行为问题是导致发病和死亡的主要原因，Prader-Willi综合征是由于染色体15 q近端印迹区域异常，导致该区域正常活动的父系基因缺失而引起的。这种缺失导致父系间质缺失、母系单亲二体、或基因突变或其他印记过程异常。近年来，所有病因的诊断鉴定都已成为可能，从而可以早期发现和采取适当的治疗措施。这项测试允许最近确定的一些表型差异之间的受影响的受试者的不同种族和那些与删除和单亲二体作为一个原因。
Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations-relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality.Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results hom absence of the normally active paternal genes in this region. Such absence results hom paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process.Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause.