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Wolf-Hirschhorn综合征(WHS)是由于4号染色体短臂末端p16.3缺失,所引起的一种较为罕见的染色体病,因此也称为4p-综合征。该病是一个相邻基因综合征,具有一致而复杂的表型,涉及两个或更多相邻基因座的小片段缺失。该病的主要临床表现是:具有特殊面容、生长发育障碍、智力低下、肌张力减退、癫痫、先心病、骨骼畸形等各种异常。新生儿发病率为1/50000,男女患者比例1∶2。
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by the loss of p16.3 at the short arm end of chromosome 4 and is therefore also known as 4p-syndrome. The disease is a contiguous gene syndrome with a consistent and complex phenotype involving small deletions of two or more adjacent loci. The main clinical manifestations of the disease are: with a special face, growth and development disorders, mental retardation, hypotonia, epilepsy, congenital heart disease, skeletal deformities and other abnormalities. The incidence of newborns is 1/50000, male and female patients ratio of 1: 2.