染色体平衡易位与异常孕产

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612对有异常孕产史的夫妇进行染色体检查。结果染色体平衡易位携带者检出率为3．3％(41／1 224),其中常染色体相互易位占58．5％(24／41),罗伯逊易位占39．0％(16／41),嵌合易位占2．4％(1／41)。9例为世界首报染色体异常核型,分别为:46,XY,t(11;12)(q13;q21);46,XX,t(3;20) (qll;q11);46,XX,t(15;16)(pll;q13);46,XY,t(2;14)(p16;q31);46,XY,t(4;10)(q25;p15);46,XX,t(3;8) (p26;q11);46,XY,t(6;16)(q15;p13);46,XX,t(18;22)(p10;q10);46,XY,t(18;22)(p10;q10)mat。总妊娠127次,早期妊娠流产率为86．6％(110／127)。结论染色体平衡易位携带者的异常孕产以早期妊娠自然流产为主要表现。

Pregnancy outcomes of balanced chromosomal translocation carriers:A report of 9 abnormal karyotypes

Objective To investigate the relationship between balanced chromosomal translocation and abnormal pregnancy outcomes. Methods Chromosomal analysis was made in 612 married couples with a history of abnormal pregnancy outcome by peripheral lymphocytes culture and G-banding. Results 41 cases of balanced translocation were identified (24 cases of reciprocal autosomal translocation; 16 cases of Robertsonian translocation; 1 case of mosaic translocation). Among them,9abnormal karyotypes were first re-ported in the world:46,XY,t(11;12)(q13;q21);46,XX,t(3;20)(qll;q11);46,XX,t(15;16)(pll;q13);46,XY,t(2; 14) (p16;q31);46,XY,t(4;10) (q25;p15);46,XX,t (3;8) (p26;q11);46,XY,t (6;16) (q15;p13);46,XX,t (18;22) (p10; q10);46,XY,t (18;22)(p10;q10)mat. Conclusion Spontaneous abortion in the first trimester was the main pregnancy outcome in the carriers of balanced chromosomal translocation.