【摘要】 目的　通过对 2 6 3对有异常儿生育史、自然流产史和胎停育的夫妇进行外周血淋巴细胞染色体检查 ,探讨染色体平衡易位与异常儿生育史的关系。方法　每人采静脉血 2ml,用RPMI16 4 0培养液 ,微量全血培养 37℃ 72h ,常规收获细胞 ,气干法制片 ,GTG法显带。显微镜下计数分析 2 0～ 30个中期分裂相 ,显微摄影分析 3～ 5个染色体核型。结果　发现 5对夫妇有染色体异常 ,染色体异常发生率为 1 9% (5 / 2 6 3)。其中平衡易位 4例 ,倒位 1例。结论　染色体平衡易位是造成流产和生育畸形儿的重要遗传因素。临床上对原因不明而有异常儿生育史或有 3次以上自然流产史的夫妇 ,均应做染色体检查。对平衡易位携带者再次妊娠时必须做产前诊断 ,以防止染色体异常患儿的出生。更多还原

【Abstract】 Objective: To probe into the relationship between balanced translocation of chromosome and obstetrical history on abnormal infants, by means of examining the chromosomes of peripheral blood lymphocytes for 263 married couples with obstetrical history on abnormal infants, habitual abortion or developmental arrest of fetus. Methods: 2ml venous blood was sampled for each patient. The cells in whole blood were cultured with RPMI-1640 culture fluid for 72 hours in 37℃. The cells were collected routinely and dried by air. The bands were displayed by means of GTG. 20～30 metaphase division phase were counted and analysed with light microscope. 3～5 karyotypes of chromosome were microphotoed. Results: 5 married couples were discovered to have chromosome abnormalities including balanced translocation 4 case, inversion 1 case. The incidence rate of chromosome abnormality was 1 9%. Conclusion: The balanced translocation of chromosome is the important factor caused abortion and malformation infants fertilized. The chromosome is examined clinically for the married couples with obstetrical history on abnormal infants and more than 3 times abortion, the prenatal diagnosis must be conducted for the married couples with balanced translocation carrier of chromosome in regravidity to avoid fertilizing the infants with chromosome abnormality.更多还原