289例智力低下和发育迟缓患儿细胞遗传学分析

Cytogenetic analysis of 289 cases of children with mental retardation and developmental delay

目的探讨兰州地区智力低下和(或)发育迟缓与患儿染色体异常的关系,并分析唐氏综合征(Down syndrome,DS)患儿染色体核型的分布及特点。方法对289例有智力低下和(或)发育迟缓疑似DS的患儿抽取外周血,行淋巴细胞培养,G显带核型分析。结果 289例患儿中检出异常核型215例,检出率为74.39%,其中常染色体异常202例,性染色体异常13例。DS为主要异常(68.51%),以单纯型DS为主(90.91%)。62.42%的DS患儿母亲生育年龄<35岁。结论发生智力低下和(或)发育迟缓的主要原因是染色体异常,所以应加强育龄女性的产前筛查和孕前指导。

Objective：To explore the relationship between the children in lanzhou with mental retardation and（or）developmental delay and chromosomal abnormalities;and analysis the distribution and characteristics of chromosome karyotype of the children with Down′s syndrome（Down syndrome,DS）. Methods：Peripheral blood lymphocyte culture and G band analysis were used to find out the abnormal karyotype of the 289 cases with mental retardation and/or retardation children which were suspected DS. Results：Among the 289 patients,215 cases,accounting for 68.51%,had abnormal karyotype;among which 202 were abnormal autosomal,sex chromosome abnormalities in 13 DS as the main abnormal（68.51%）,and given priority to with simplex DS（90.91%）,62.42% of children with DS mothers aged less than 35 years old. Conclusion：The main reason of the mental retardation and（or）developmental delay is chromosomal abnormalities.So we should strengthen the child-bearing age women of prenatal screening and pregnancy checking.