连续多发性流产夫妇的高分辨染色体研究——附6例世界首报异常核型

High Resolution Chromosome Study of Couuples with Recurrent Abortion first reported six abnormal karyotypes in the world

选择407对连续流产2-8次的夫妇进行染色体G显带分析,发现异常核型23例。407对夫妇中,采用高分辨技术精细定位46例,发现的15例异常核型中有6例鉴定为世界首报,对其中4例进行了绒毛染色体检查,均发现与父(母)相同的异常核型,说明非同源染色体相互易位和倒位携带者的后代必须接受宫内诊断,智力低下或生育力降低可能与易位染色体有关。

Karyotyping (G-band) of 407 couples with a history of 2—8 spontaneous abortions were performed, 23 were abnormal, 46 of the 814 patients were evaluated with resolutfon chromome G-banding. technique, 15 abnormal chromosomes of them were found and preciselv discerned by the above method, including 6 abnormal karyotypes which has never been reported in the world. They are: 46, xy, t(2: 14) (p13·3; q32·3); 46, xx, t(2; 14) (q37·3; q22·3); 46, xy, t(2; 18) (q 31·3; q23); 46, xx, t(3; 10; 6) (p25·3; q22·3; q23); 46, xy, inv(7) (p 15·3; q32·3)mat; 46, xy, t(6; 16)(q25·1; p13·3). Four of the 6 rare karyotypes cases got pregnant and chorionic villus sampling studying proved that future generations have the same abnormal karyotypes as their father or mother after eugenic abortion, the chorionic villus karyotypes proved the previous diagnosis.