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脆性X染色体综合征(简称脆性X综合征)近几年受到十分重视。它是一种X连锁智力低下疾病;其发生率较高,在男性群体中为0.19/1000～0.92/1000;有脆性X染色体表达是细胞遗传学上此病特有的表现;临床表现以智力低下伴巨睾症等为特征。现就其脆性X染色体及临床情况加以介绍。
Fragile X chromosome syndrome (referred to as fragile X syndrome) in recent years have received great attention. It is an X-linked mental retardation disorder; its incidence is high, ranging from 0.19 / 1000 to 0.92 / 1000 in the male population; fragile X chromosome expression is a unique manifestation of cytogenetics; its clinical manifestations are mental retardation Accompanied by giant testicles and other features. Now on its fragile X chromosome and clinical situation to be introduced.