【作者】 文建庆； 叶虹； 黄国宁；

【Author】 Chongqing Obstetrics and Gynecology Hospital. Chogqing, 400013, China Wen Jianqing, Ye Hong, Huang Guoning

【机构】 重庆市妇幼保健院；

【摘要】 作者为了研究不良孕产史与染色体异常的关系,采用外周血淋巴细胞常规培养法制备染色体标本,对1382对有不良孕产史的夫妇双方进行了染色体检查,共检出异常核型188例,异常检出率为6.80%,明显高于普通人群。异常核型所涉及的染色体有1、2、3、4、5、6、7、8、9、10、11、12、13、14、15、16、17、18、20、21、22、X、Y等71种核型,其中5种核型经专家鉴定属世界首报。在异常染色体核型中,平衡易位142例(相互易位90例,罗伯氏易位52例),占75.53%,染色体臂间倒位28例,占14.89%,其它染色体异常核型15例,占8.0%,嵌合体3例,占1.60%,男性64例,占34.04%;女性124例:占65.96%。并就不良孕产史异常染色体的检出率;染色体平衡易位与不良孕产史:染色体臂间倒位与不良孕产史;大Y染色体与不良孕产史;异常染色体的男女比例与等进行了分析和讨论。认为不良孕产史不但与染色体畸变有关,而且与染色体多态性也有一定关系。对于不良孕产史的夫妇进行染色体检查十分必要,这不仅有助于病因的诊断与分析,而且也有助于临床的处理和指导。更多还原

【Abstract】 To study the relationship between negative reproductive histories and anomaly of chromosomes. We used common method to culture lymphocytes in blood and got chromosomal samples of couples who had negative reproductive histories. After examined the samples, we found 188 cases had anomaly karyotypes. The abnormal rate was 6.80%, much higher than common crowd. Including 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18,19, 20, 21, 22, X, Y chromosomes, there are 71 kinds of anomalous karyotypes could be found. Among them, 5 karyotypes were the first reported in the world. In the anomalous karyotypes, the balanced translocation was 142 cases (90 cases are reciprocal translocation and 52 cases are Robertsonian translocation), that is 76.80%. The pericentric translocation was 28 cases (14.89%). And the other anomalous karyotypes were 15 cases (8. 0%). The chimera was 3 cases (1. 60%). 64 cases of anomalous karyotypes were found in males (34.04%) and 124 cases were females (65.96%). We take a discussion from aspects below: the incidence rate of anomalous chromosomes; the relationship between negative reproductive histories and balanced translocation; the relationship between negative reproductive histories and pericentric translocation; the relationship between negative reproductive histories and big Y. The conclusion is that the negative reproductive histories is not only concerned with chromosomal aberrations but also with chromosomal polymorphism. So it is necessary to take the examination of chromosomes in couples who had negative reproductive histories. It is not only to assist analysis the origin of the disease but also to supply important references for clinical therapy.更多还原