21号染色体异常17例分析  

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

作　　者：郭玉琳[1] 朱伟[1] 张家强[1] 胡海波[1] 

机构地区：[1]江苏省徐州市第一人民医院血液细胞室,徐州221002

出　　处：《中国优生与遗传杂志》2013年第5期67-68,共2页Chinese Journal of Birth Health & Heredity

摘　　要：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.

关 键 词：Down's综合征 21号染色体 先天不育 习惯性流产 

分 类 号：R714.21[医药卫生—妇产科学]