摘要
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 3 5例 :常染色体相互易位 2 5例 ,罗伯逊易位 9例 ,复杂易位 1例。其中 3例为世界首报异常核型 ,分别为 46,XX,t( 1;5 ) ( q3 2 ;q13 )、 46,XY,t( 3 ;12 ) ( q2 3 ;q2 4)和 46,XX,t( 11;12 ) ( q2 3 ;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上的剂量效应 。
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.
出处
《华中科技大学学报（医学版）》
CAS
CSCD
北大核心
2003年第1期111-114,共4页
Acta Medicinae Universitatis Scientiae et Technologiae Huazhong
关键词
染色体
平衡易位
异常孕产
携带者
chromosome
balanced translocation
abnormal pregnancy
carrier
