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一、脆性X染色体综合征的临床特征根据外表特征鉴别有脆性X染色体的人是十分困难的,即使在智力低下的人群中,也很难决定那一个病例值得进一步研究。目前,筛选的方法:一是研究X-连锁智力低下家系中的成员;二是根据某些临床特征作进一步研究,如像Down综合征那样。脆性X综合征有些临床特征对诊断具有一定价值。与脆性X染色体相关的主要临床特征包括智力低下、巨睾症、特殊面容、语言障碍及行为异常等方面,现分别介绍如下: 智力低下:脆性X综合征智力缺陷的程度变化范围较大。通常,半合子表现较严重
First, the clinical features of Fragile X Syndrome Fragile X chromosome identification based on the appearance of people is very difficult, even in people with mental retardation, it is difficult to determine which one case worthy of further study. Currently, the screening method: one is to study the members of the X-linked mental retardation pedigree; the other is to further study according to some clinical features, such as Down syndrome. Some clinical features of Fragile X syndrome have some value in diagnosis. The main clinical features associated with the fragile X chromosome include mental retardation, giant testis syndrome, special facial features, speech impairment, and behavioral disorders. These are as follows: Mental retardation: The extent of mental retardation in Fragile X syndrome varies widely. In general, hemizygous performance is more serious