染色体平衡易位与异常孕产关系的研究(附3例世界首报染色体异常核型)

目的 探讨染色体平衡易位与异常孕产的关系。方法 采用外周血淋巴细胞培养和染色体G显带分析，对490对有异常孕产史的夫妇进行染色体检查。结果 检出染色体平衡易位携带者35例；常染色体相互易位25例，罗伯逊易位9例，复杂易位1例，其中3例世界首报异常核型。分别为46，XX，t(1；5）（q32;q13)、46，XY，t(3;12)（q23;q24)和46，XX，t(11,12)(q23;p13)。结论 染色体平衡易位携带者的异常孕产以孕早期自然流产为主要表现，不平衡染色体在胚胎发育中产生遗传学的剂量效应，导致胚胎早期丢失的风险增大。

Abnormal Pregnancy of Balanced Chromosomal Translocation Carriers--A Report of 3 Abnormal Karyotypes of the First Reported in the World

Objective To investigate the relationship between balanced chromosomal translocation and abnormal pregnancy. Methods Chromosomal analysis has been made in 490 married couples with a history of abnormal pregnancy by peripheral lymphocytes culture and G-banding. Results 35 cases of balanced translocation were discovered (25 cases of reciprocal autosomal translocation; 9 cases of robertsonian translocation; 1 case of complex translocation). Among them, 3 abnormal karyotypes were first reported in the world: 46,XX,t(1;5)(q32;q13); 46,XY,t(3;12)(q23;q24); 46,XX,t(11;12)(q23;p13). Conclusion Spontaneous abortion in the first trimester was the main mode of abnormal pregnancy in the carriers of balanced chromosomal translocation. It is suggested that the dosage effect of unbalanced chromosome on genetic in embryonic development led to the high risk of early embryonic lethal.