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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 To analyze the cytogenetic characteristics of three types of specimens in Hainan and analyze the karyotypes of the two first cases. Methods Peripheral blood 1212 routine inoculation, 37 ℃ by 72h culture, harvest, G banding. 35 cases of amniotic fluid routine inoculation, 8 days harvest, G banding. 6 cases of aborted hair fluffed medium plus medium, 8d to 15d harvest, G banding. Results The abnormal rate of peripheral blood karyotype was 5.29% (64/1212). Two cases were identified as the first reported: 1. 3588 46, XY, t (10; 21) (q24; q22) dn, XX, t (1; 12) (q32; q24) pat. The abnormal rate of amniotic fluid karyotype was 14.29% (5/35), and the abnormal rate of villus karyotype was 50% (3/6). Conclusions The chromosomes examination, compulsory chromosome examination in premarital examination, genetic counseling and procreation guidance should be strengthened for the first trimester of prevention and control of birth defects (prevention of birth defects).