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Prader-Willi综合征(PWS)是在1956年首先由PraderLabhart和Willi描述并命名的。发病率估计在1/10000~l/30000,已知PWS是由于15号染色体长臂近中关键区的缺失或特殊异常所致,是一种非孟氏遗传现象一基因组印迹(genomicimprinting)的典型代表。临床表现主要影响中枢神经系统,特别是丘脑下部的畸形综合征。
Prader-Willi Syndrome (PWS) was first described and named by PraderLabhart and Willi in 1956. The incidence is estimated at 1 / 10,000 to 1/30000 and PWS is known to be due to the absence or unusual abnormalities of proximal and proximal critical regions of the long arm of chromosome 15 and is typical of genomic imprinting representative. Clinical manifestations mainly affect the central nervous system, especially in the lower part of the thalamus syndrome.