不孕症和自然流产患者染色体核型异常探析.docVIP

不孕症和自然流产患者染色体核型异常分析 　　[摘要] 目的 分析评价不孕症和自然流产患者染色体核型分布的关系。方法 整群收集该院2012年1月―2015年12月行外周血染色体检查的不孕症和自然流产患者416例进行G显带染色体核型分析，发现异染色区异常病例进行C显带确认，发现随体及随体柄异常进行N显带确认。结果 在对该院就诊的不孕症和自然流产患者核型分析检查的416例样品中，共检出的51例染色体异常核型和2例性发育异常病例，总异常率为12.26%。51例染色体异常核型中常染色体结构异常有34例；异染色区多态性9例；性染色体结构异常4例。 染色体数目异常4 例，其中1例为嵌合型数目异常。 结论 染色体核型异常与不孕症和自然流产密切相关，也是出生异常胎儿的重要原因，为达到降低出生人口缺陷率优生优育的目标应进行必要的遗传学咨询、 产前筛查、产前诊断 [关键词] 不孕症；自然流产；染色体核型 [中图分类号] R711 [文献标识码] A [文章编号] 1674-0742（2016）08（c）-0085-03 Infertility And Spontaneous Abortion Abnormal Karyotype Analysis GUO Yan-wei1 ，WEN Li-juan 1，ZHAO Xian-jie2， ZHAO Hui-min1 1.Clinical Laboratory，Baogang Hospital，Baotou，Inner Mongolia，014010 China；2 Department of Cardiology， Baogang Hospital，Baotou，Inner Mongolia，014010 China [Abstract] Objective Analysis and evaluation of the relationship between infertility and spontaneous abortion karyotype distribution. Methods Group selection 416 cases of natural infertility and abortion cases collected in our hospital from January 2012 to December 2015 were peripheral blood chromosome G-banding karyotype， abnormal cases heterochromatin zones C banding confirmed the body was found with the body and handle exceptions with the N-banding confirmation. Results In 416 cases of infertility and spontaneous abortion samples karyotyping examination of our hospital， a total of 51 cases of detected abnormal karyotypes and two cases of dysplasia cases， the total abnormal rate was 12.26%. 51 cases of abnormal karyotypes often chromosome structural abnormalities in 34 cases； heterochromatin polymorphism 9 cases； sex chromosome structural abnormalities in 4 cases. The number of chromosome abnormalities in 4 cases， 1 case of abnormal number of chimeric. Conclusion Karyotype abnormality associated with infertility and spontaneous abortion， birth is an important reason for abnormal fetus， to achieve the goal of reducing the rate of prenatal and postnatal care of Birth Defects should undertake the necessary genetic counseling， prena