273例曾生育非整倍体患儿父母染色体核型分析

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。

Analysis of Karyotype in 273 Couples with History of Aneuploidy Children

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.