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对496对反复流产夫妇体细胞染色体进行了分析,发现染色体异常58例,占被检夫妇的11.69％,占总人数的5.85％。其中染色体易位型23例,性染色体异常11例,其它异常3例,9号染色体倒位5例,多态现象3例,单个或几个细胞核型异常13例。男女比例为男性异常率小于女性异常率。通过分析,认为染色体异常,特别是染色体易位畸变与性染色体数目畸变是主要的流产原因之一。在造成流产的性别方面结合人精子染色体畸变研究,提出男女染色体畸变率总差异是性染色体畸变率差异造成,而在受精方面不存在优先受精的可能性。对于单个或几个核型异常是否造成流产的问题,提出要结合病人的配子染色体检查,防止生殖细胞染色体异常率升高造成流产的漏诊情况发生。对多态现象提出要进一步研究这些人群的配子染色体情况,以便了解多态现象的真正遗传效应。
Analysis of 496 pairs of recurrent miscarriage of somatic chromosomes found that 58 cases of chromosomal abnormalities, accounting for 11.69% of the couples were seized, accounting for 5.85% of the total number. There were 23 cases of chromosomal translocations, 11 cases of sex chromosome abnormalities, 3 cases of other abnormalities, 5 cases of chromosome 9 inversions, 3 cases of polymorphism, and 13 cases of single or several karyotype abnormalities. Male to female ratio of male abnormal rate is less than female abnormal rate. Through analysis, it is considered that one of the main causes of abortion is chromosomal abnormality, especially chromosome aberration and sex chromosome aberration. In the cause of miscarriage of sex combined with human sperm chromosome aberration study, proposed that the total difference between male and female chromosome aberration rate is caused by differences in the rate of sex chromosome aberration, fertility and there is no possibility of prioritizing fertilization. For a single or several karyotype abnormalities caused the problem of abortion, proposed to be combined with the patient’s gamete chromosome examination to prevent the abnormal rate of germ cell chromosome abnormalities caused misdiagnosis of abortion occurred. Polymorphism was proposed to further study gamete chromosomes in these populations in order to understand the true genetic effects of polymorphism.