22例染色体平衡易位携带者优生遗传咨询

本文对我科自1982年8月至1991年12月间检出的22例平衡易位携带者进行分析,结果显示:此组病人以反复自然流产而就诊者最多,占77.27％;其次是曾分娩畸形儿死胎者,占9.09％。染色体核型分析以罗伯逊易位为最多,占81.82％,其中非同源染色体罗伯逊易位占77.78％,同源染色体罗伯逊易位占22.22％;染色体相互易位占18.18％。本文建议同源染色体罗伯逊易位者,应劝其绝育,非同源染色体平衡易位者,可于孕中期取羊水细胞培养进行产前诊断。

Genetic counseling of 22 patients of balanced translocation carrier.

Twenty-two cases of balanced translocation carrier from Aug 1982 to Dec 1991 were analysed.The results showed that the commonest reason for counseling was recurrent abortion accounting for 77.2% The second commonest reason was fetal death due to deformity(9.09%). Karyotype analysis showed that majority of the cases were Robertsonian translation(81.82%),among which 77.78% was nonhomologous,and 22.23% was homologous. Reciprocal translocation accouted for the rest 18.82%. The paper suggested that patients of homologous Robertsonian translocation should be sterilized,and,for the nonhomologous,amniotic cells from amniocentesis at the second trimester of pregnancy should be cultured to make the prenatal diagnosis.