21三体综合征的细胞遗传学分析

Cytogenetic analysis on Mongolian idiocy

目的用细胞遗传学方法分析21三体综合征患者的染色体核型及其病因。方法采用细胞培养、制片、G显带核型分析等细胞遗传学方法。对患者外周血淋巴细胞进行了研究。结果发现21例患者核型异常,其中标准型18例,易位型2例,嵌合型1例。结论染色体技术是某些遗传性疾病诊断必不可少的手段,先天愚型的发生与母亲的年龄、遗传,环境因素有关。

Objective Cytogenetics method was analysed in Mongolian idiocy and the reason which induce the disease . Methods The method of cytogenetics as cell culture , plate, making, G banking and karyotype analysis ect, has been adopted in the cytogenetics study of patient＇s chromosome of pripheral blood lymphocyte. Result It was found that the karyotype of 21 patients were abnormal, including 18 case of standard type, and 2 case of translocation type, and 1 case of mosaic type. Conclusion： The cytogenetic technology is an useful method to diagnose chromosome abnormality-related disease Down syndrome is relation to mothers age,genetics , enviroment , ect, factors and other.