92例先天性智力低下患儿细胞遗传学分析  

Chromosome analysis in 92 children with congenital mental retardation

作　　者：王芳[1,2] 杨尧[2] 杨晓[2] 王春枝[2] 何玺玉[2] 

机构地区：[1]重庆第三军医大学研究生管理大队学员3队,重庆400038 [2]北京军区总医院附属八一儿童医院临床遗传学中心,北京100700

出　　处：《中国当代儿科杂志》2011年第8期651-653,共3页Chinese Journal of Contemporary Pediatrics

基　　金：全军"十一五"课题(06MB074)

摘　　要：目的探讨先天性智力低下患儿染色体核型变化。方法取92例先天性智力低下患儿外周血混合淋巴细胞培养,制备染色体,利用G显带技术对其进行染色体核型分析。结果 92例患儿中,检出异常染色体核型43例,检出率47%。其中,常染色体异常35例,占38%;性染色体异常8例,占9%;新发现1例智力低下异常核型:45,XX,psu dic(11;9)(p15;p24)。结论染色体异常是导致先天性智力低下的重要原因,外周血细胞遗传学分析有助于提高先天性智力低下病人的遗传学筛查率。Objective To explore the chromosome karyotypes in children with mental retardation.Methods The peripheral blood lymphocytes from 92 chidren with congenital mental retardation were cultured and analysed by the G-band technique.Results Of the 92 cases,43 cases（47%） showed chromosome abnormalities.Autosomal abnormalities were found in 35 cases（38%） and sex chromosome abnormalities were found in 8 cases（9%）.A novel abnormal karyotype 45,XX,psu dic（11;9）（p15;p24） was found in a child.Conclusions Chromosome abnormalities may be important cytogenetic factors for congenital mental retardation.Cytogenetic chromosome karyotypic analysis appears to be an important method for genetic screening of congenital mental retardation.

关 键 词：智力低下 染色体核型 儿童 

分 类 号：R440[医药卫生—诊断学] R749.94[医药卫生—临床医学]