标题：染色体异常、染色体多态性与生殖异常的相关性分析

      作者：唐 芳，陶晓海，卢 航，屈艳霞，杨 烨，李雅文，左连东，陈桂兰
    (广州市人口和计划生育科学研究所，广东 广州 510410)

      卷次： 2015年26卷16期

      【摘要】 目的 探讨染色体异常、染色体多态性与不孕不育、不良妊娠等生殖异常的关系。方法 收集本所近
5年生殖异常(不孕不育和不良妊娠)患者150例，行外周血淋巴细胞培养及染色体制片，G显带分析。结果 检出染
色体异常9例（克氏综合征2例、特纳综合征2例、平衡易位2例、罗氏易位2例和倒位1例)，染色体异常发生率为
6.0%；检出染色体多态性32例，染色体多态性发生率为21.33%。其中，D/Gs+和1,9,16qh+是最主要的染色体多态
类型。性染色体异常和性染色体多态性主要发生在不孕不育组；常染色体异常和常染色体多态性主要发生在不
良妊娠组。结论 染色体异常和染色体多态性是可能导致不孕不育及不良妊娠的重要原因，对生殖异常患者进
行染色体检查很有必要。

      【关键词】 不孕不育；不良妊娠；染色体异常；染色体多态性

      【中图分类号】 R711.6 【文献标识码】 A 【文章编号】 1003—6350（2015）16—2379—03


Correlation between abnormal chromosome, chromosome polymorphism and reproduction abnormality.
TANG
Fang, TAO Xiao-hai, LU Hang, QU Yan-xia, YANG Ye, LI Ya-wen, ZUO Lian-dong, CHEN Gui-lan. The Population
and Family Planning Science Research Institute of Guangzhou, Guangzhou 510410, Guangdong, CHINA

【Abstract】 Objective To analyze the relationship of abnormal chromosome, chromosome polymorphism
with infertility, adverse pregnancy. Methods One hundred and fifty patients with reproductive abnormalities were
collected in the recent five years. Then the peripheral blood were cultured and the cells were collected for chromo-
some preparation, G banding, karyotype analysis. Results Nine cases were detected with chromosomal abnormality
(including 2 cases of Klinefelter syndrome, 2 cases of Turner syndrome, 2 cases of balanced translocation, 2 cases of
Robertsonian translocation, and 1 case of inversion), and the abnormal rate was 6.0%. Among the 150 cases, 32 were
detected with chromosome polymorphism, with the polymorphism rate of 21.33%. Abnormality and polymorphism of
sex chromosome mainly influenced infertility rate, and the abnormality and polymorphism of euchromosome mainly
influenced adverse pregnancy rate. Conclusion Abnormalities and polymorphism of chromosome is an important
reason of infertility and adverse pregnancy. It is necessary to perform chromosome examination for patients with repro-
ductive abnormalities.