235对流产夫妇细胞遗传学分析

目的　探讨染色体核型与流产的细胞遗传学关系。方法　收集流产夫妇外周血 ,对外周血淋巴细胞进行培养制片、胰酶消化、G带显带分析 ,对异常核型进行电脑摄像及染色体分析。结果　分析 2 35对自然流产夫妇的染色体核型 ,发现异常 37例 ,异常发生率为 7 87%。染色体异常涉及到 1,2 ,5 ,7,8,9,12 ,13,14 ,15 ,17,18,2 0 ,2 1,2 2号染色体。这些染色体核型异常病例中女性 2 1人、男性 16人 ,其中平衡易位 15例 ,检出率 3 19% (占异常总数 4 0 5 4 % ) ;臂间倒位 14例 ,检出率 2 97% (占异常总数 37 83% ) ;随体异常 4例 ,检出率 0 85 % (占异常总数 10 81% ) ;Y大 2例 ,检出率 0 4 2 % (占异常总数 5 4 0 % ) ;次溢痕加长 1例 ,检出率 0 2 1% (占异常总数 2 70 % ) ;额外小染色体 1例 ,检出率 0 2 1% (占异常总数 2 70 % )。结论　染色体异常是引起流产的一个重要因素。

Chromosomal analysis in 235 couples with spontaneous abortions

Objective To evaluate the relationship between karyotype and spontaneous abortions.Methods The peripheral blood in 235 couples with spontaneous abortions were collected. The chromosomal karyotypes of peripheral lymphocytes in 235 couples with spontaneous abortions were analyzed using G-banding after lymphocytes were treated with trypsin.Results There were 37 abnormal karyotypes in 235 couples with spontaneous abortions. The rate of abnormal karyotypes was 7.87%. Abnormal chromosomes were included 1,2,5,7,8,9,12,13,14,15,17,18,20,22 chromosome. These cases included 21 women and 16 men. Among the 37 cases of abnormal karyotypes, 15 cases had balanced translocations, it was 3.19% in all cases(40.54% in abnormal karyotypes); 14 cases had pericentric inversion, it was 2.97% in all cases(37.83% in abnormal karyotypes); 4 cases had chromosome satellite variations, it was 0.85% in all cases(10.81% in abnormal karyotypes); 2 cases had large Y chromosome, it was 0.42% in all cases(5.40% in abnormal karyotypes); 1 case had heter chromatin variations, it was 0.21% in all cases(2.70% in abnormal karyotypes); 1 case had extraordinary small chromosome, it was 0.21% in all cases(2.70% in abnormal karyotypes).Conclusion The spontaneous abortions should be ralated to chromosome abnormalities.