21号染色体异常17例分析

17 cases analysis of the abnormal karyotype of chromosomal and habitual abortion

目的分析15例先天愚型患儿和2例习惯性流产夫妻21号染色体核型变化。方法采集患者外周静脉血进行淋巴细胞培养,常规方法收获细胞、低渗、固定、制片、G显带处理,镜检观察。结果 15例先天愚型患儿中,13例表现为21-三体,两例结构异常(21q+、i21q),两对习惯性流产夫妻中,1例男方为45,XY,i(21q),-21(25),女方正常;另1例女方为46,XX,21q+,男方正常。结论 21号染色体除数目异常外,结构异常可导致先天愚型及习惯性流产,基因效应值得关注。

Objective： To investigate abnormal karyotype of 15 cases with Down＇s syndrome and two pairs of couples with habitual abortion. Methods： The normal chromosome specimen, G banding was used to identify chromosome. Results： Among 15 cases with Down＇s syndrome, 13case were 21 - trisomy, another two case were 21 chromosome structural abnormalities （21q ＋, i21q） ; A- mong two pairs of couples with habitual abortion, one case was 45, XY, i （21q）, -21 （25）, the other case was 46, XX, 21q ＋. Conclusion： In addition to the number of abnormal, structural abnormalities of the 21 chromosomecan cause Down＇s syndrome and ha- bitual abortion, gene effects worthy of attention.