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【目的】分析智力低下患儿染色体异常检出率、异常类型和频率分布。【方法】取280例智力低下儿外周血进行培养、制片、烘烤、胰酶消化和染色,每例计数50个分裂相染色体数目,分析5个核型。遇嵌合现象加倍分析。【结果】280例患儿中,异常核型122例,异常检出率为43.57%。其中常染色体数目异常占62.30%,常染色体结构异常占4.10%,常染色体数目与结构异常占6.55%;性染色体数目异常19.67%,性染色体结构异常7.38%。【结论】染色体异常是导致智力低下的重要原因。对智力低下患儿进行染色体检测对确定其病因和治疗是必要的。
【Objective】 To analyze the detection rate, abnormal type and frequency distribution of chromosomal abnormalities in children with mental retardation. 【Methods】 Peripheral blood of 280 children with mental retardation were cultured, prepared, baked, digested with trypsin and stained. The number of chromosomes in 50 mitotic phases was counted and 5 karyotypes were analyzed. Case of mating phenomenon double analysis. 【Results】 Among the 280 cases, 122 cases were abnormal karyotype, the abnormal detection rate was 43.57%. The number of an autosomal abnormalities accounted for 62.30%, autosomal abnormalities accounted for 4.10%, autosomal number and structural abnormalities accounted for 6.55%; sex chromosome abnormalities 19.67%, sex chromosome abnormalities 7.38%. 【Conclusion】 Chromosomal abnormalities are the important reasons leading to mental retardation. Chromosome detection in children with mental retardation is necessary to determine its etiology and treatment.