273例曾生育非整倍体患儿父母染色体核型分析  

Analysis of Karyotype in 273 Couples with History of Aneuploidy Children

作　　者：庄建龙 曾书红 江矞颖 庄倩梅 王耿 王元白 ZHUANG Jian-long;ZENG Shu-hong;JIANG Yu-ying;ZHUANG Qian-mei;WANG Geng;WANG Yuan-bai(Quanzhou Women′s and Children′s Hospital,Quanzhou 362000,Fujian Province,Chin)

机构地区：[1]福建省泉州市妇幼保健院.儿童医院,362000

出　　处：《国际生殖健康／计划生育杂志》2018年第4期297-299,共3页Journal of International Reproductive Health/Family Planning

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。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 rate4.31%）. 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.

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 

分 类 号：R725.9[医药卫生—儿科]