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

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。

Abstract:

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.