智力低下儿脆性位点检查的意义

Significance of fragile site examination in children with mental retardation

目的:探讨应用染色体技术诊断智力低下病因的意义。方法:对86例智力低下儿应用常规外周血淋巴细胞染色体标本制备、G显带、镜下核型分析和染色体脆性位点表达研究,另选正常儿童30例为对照组。结果:86例受检者中检出异常核型24例,检出率为27.91%。实验组染色体脆性位点的发生率为25.02%,对照组为5.27%,两组相比差异有统计学意义(P<0.01)。结论:染色体异常是导致智力低下发生的重要原因之一,智力低下与染色体畸变和脆性部位表达率有一定的相关性。

Objective：To explore the significance of chromosomal technique for diagnosing the causes of mental retardation.Methods：Eighty-six children with mental retardation were selected,then routine preparation of chromosomal samples of lymphocytes in peripheral blood,G band,karyotyping under microscope,and research on chromosomal fragile site expression were performed;30 normal children were selected as control group.Results：Among 86 children with mental retardation,24 children were found with abnormal karyotypes,the detection rate was 27.91%.The incidence rates of chromosomal fragile site in experimental group and control group were 25.02% and 5.27%,respectively,there was statistically significant difference between the two groups（P0.01）.Conclusion：Chromosomal abnormality is one of important causes of mental retardation,there is a certain correlation between mental retardation and chromosomal aberration,expression rate of fragile site.