国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2018, Vol. 37 ›› Issue (4): 297-299.

• 论著 • 上一篇    下一篇

273例曾生育非整倍体患儿父母染色体核型分析

庄建龙，曾书红，江矞颖，庄倩梅，王耿，王元白   

  1. 362000  福建省泉州市妇幼保健院·儿童医院
  • 收稿日期:2018-05-14 修回日期:2018-06-20 出版日期:2018-07-15 发布日期:2018-07-15

Analysis of Karyotype in 273 Couples with History of Aneuploidy Children

ZHUANG Jian-long，ZENG Shu-hong，JIANG Yu-ying，ZHUANG Qian-mei，WANG Geng，WANG Yuan-bai   

  1. Quanzhou Women′s and Children′s Hospital，Quanzhou 362000，Fujian Province，China
  • Received:2018-05-14 Revised:2018-06-20 Published:2018-07-15 Online:2018-07-15

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摘要： 目的：探讨曾生育非整倍体患儿父母染色体核型异常的检出情况。方法：利用G显带技术对273例曾生育非整倍体患儿父母以及116例健康体检者进行染色体核型分析，必要时加做C显带。结果：273例样本中共检出72例染色体变异，其中包括4例染色体结构异常，检出率为1.46%；68例染色体多态变异，检出率为24.91%；剔除高龄女性样本后，多态变异检出率为64/255（25.10%）。116例对照组染色体核型共检出1例染色体结构异常，5例染色体多态变异，多态变异检出率为4.31%，2组多态变异检出率差异有统计学意义（P＜0.05）。结论：曾生育非整倍体患儿父母染色体多态变异具有较高检出率，应引起临床医生的重视。

关键词: 非整倍性, 多态现象, 遗传, 染色体显带, 染色体畸变, 核型分析

Abstract: Objective：To analyze the karyotype in those couples who had one or more aneuploidy children. Methods：The G-banding was used to analyze the chromosome karyotype in 273 couples with the history of aneuploidy children (the test group) and 116 normal couples (the control group). The C-banding was also used if necessary. Results：In the test group, there were 72 chromosomal abnormalities including 4 structural abnormalities(the detection rate 1.46%), and 68 chromosome polymorphisms (the detection rate 24.91%). The detection rate of chromosome polymorphisms  was 25.10% (64/255) if excluding those samples from ageing women. In the control group, only one structural abnormality was found, and 5 chromosome polymorphisms were found (the detection rate 4.31%). There was significant difference in the detection rate of chromosome polymorphisms between the two groups (P＜0.05). Conclusions：There was a higher rate of chromosomal polymorphisms in those couples with the history of a or more aneuploidy children, suggesting us to pay more attention to the karyotype of those couples.

Key words: Aneuploidy, Polymorphism, genetic, Chromosome banding, Chromosome aberrations, Karyotyping