201对有不良孕产史夫妇的染色体分析

A genetics study on 201 couples with the history of abnormal gestation and birth

目的探讨不良孕产史医学细胞遗传学主要特征。方法采用细胞遗传学方法对安徽地区２０１对有不良孕产史的夫妇进行外周血淋巴细胞检查。结果发现染色体异常核型２９例，异常率为７．２％。其中常染色体异常１６例，性染色体异常３例，染色体形态异常７例，标记染色体３例。结论染色体异常可能是流产、死胎、畸胎、畸形儿的原因之一；染色体的遗传多态性与疾病的关系应引起高度重视。

Objective To investigate the characteristics of abnormal gestation and birth on the basis of medical genetics. Methods Peripheral blood lymphocytic culture and microscopy were adopted to detect the karyotype. Results Of all the 201 couples who had the medical history of abnormal gestation and birth, 29 cases with chromosome abnormalities of karyotype were found including 16 cases with autosomal abnormalities, 3 cases with sex chromosome abnormalities, 7 cases with chromosome shape abnormalities and 3 cases with labelled chromosome, accounting for 7.2%(29/201). Conclusion Chromosome abnormalities may be one of the important causes of abortion, stillbirth, monster and malformation. The relationship between the genetic polymorphism of chromosome and diseases should be taken seriously.