1253例遗传咨询者细胞遗传学分析并二例首报核型

1253 cases of cytogenetic analysis and two world′s first report karyotypes

目的对海南地区3种类型的标本行细胞遗传学分析,并2例首报核型进一步分析探讨。方法取外周血1212例常规接种,37℃经72h培养,收获,G显带。羊水35例常规接种,8天收获,G显带。流产绒毛6例剪碎加培养基接种,8d至15d收获,G显带。结果外周血核型异常率5.29%(64/1212),鉴定2例为首报:1.编号3588:46,XY,t(10;21)(q24;q22)dn,2.编号3589:46,XX,t(1;12)(q32;q24)pat。羊水核型异常率14.29%(5/35),流产绒毛核型异常率50%(3/6)。结论对不良孕产史人群及疑染色体病者加强染色体检查,婚检中强制染色体检查,及时进行遗传咨询及生育指导,做好出生缺陷三级预防策略中的一级预防(防止出生缺陷)。

Objective：Three type samples were collected and undergone cytogenetic analysis including 1212 peripheral bloods,35 amniotic fluids and 6 abortion villus. We found two types of karyotype that had been first reported in the world in our study,which need further investigation. Methods：Peripheral bloods were inoculated in normal medium at 37 ℃,harvested after 72 hours incubation,and G band karyotype analysis was applied. Aminotic fluid samples were inoculated as usual,harvested after 8 days and G band karyotypes were analyzed. Abortion villus were cut into pieces and inoculated,harvested afer 8-15 days and G banding were analyzed. Results：The abnormal rate of peripheral blood kayrotypes is 5.29%（64/1212）,two cases were identified as the first reports in the world [46,XY,t（10;21）（q24;q22）dn]; [46,XX,t（1;12）（q32;q24）pat]. abnormal aminotic kayrotypes rate 14.29%（5/35）;abnormal abortion villus rate 50%（3/6）. Conclusions：The chromosome karyotype analysis is necessarily applied to those couples with history of abnormal childbering,infertility and sterility,which helps the doctor to conduct genetic consultation and pregnancy instruction in order to execute the first strategy of prevention birth defects.