Prader-Willi syndrome
Prader-Willi syndrome
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DOI：
10.1038/ejhg.2008.165
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发表时间：
2009-01-01
影响因子：
5.2
通讯作者：
Driscoll, Daniel J.
中科院分区：
文献类型：
--
作者：
Cassidy, Suzanne B.;Driscoll, Daniel J.
Prader-Willi综合征(PWS)是一种影响多个身体系统的高度可变的遗传性疾病，其最一致的主要表现包括婴儿期低眼压伴吸吮不良和体重增加不佳；轻度精神发育迟缓、性腺功能减退、生长激素不足导致家庭身材矮小、儿童早期发病的吞噬功能亢进和肥胖、特征的外表，以及行为和有时精神障碍。更多细微的特征对诊断有帮助，在管理上也很重要。PWS是涉及基因组印记的遗传疾病的一个例子。导致15q11.2-q13区域父系遗传基因表达缺失的主要机制有三种：父系微缺失、母系单亲二体和印记缺陷。
Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.