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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 using chromosomal techniques to diagnose the cause of mental retardation. Methods: Eighty - six cases of mental retardation were studied by routine peripheral blood lymphocyte chromosome preparation, G - banding, microscopic karyotype analysis and chromosomal fragile locus. 30 normal children were selected as the control group. Results: Totally 24 cases of abnormal karyotype were detected in 86 cases, the detection rate was 27.91%. The incidence of chromosomal fragile sites was 25.02% in the experimental group and 5.27% in the control group, with significant difference between the two groups (P <0.01). Conclusion: Chromosomal abnormalities are one of the important causes of mental retardation. Mental retardation has some correlation with chromosomal aberrations and the expression of fragile parts.