一例21三体综合征孕妇及其正常新生儿  

A mother with Down′s syndrome and her chromosomally normal infant

作　　者：佘芹[1] 谭卫荷[1] 成志[1] 张金云[1] 郭晓燕[1] 

机构地区：[1]清远市人民医院,广东511518

出　　处：《中国优生与遗传杂志》2015年第4期70-71,5,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的分别采用SNP-array CGH及G-显带核型分析对一例智力低下孕妇外周血及新生儿脐带血标本进行检测,初步探讨21三体综合征妇女生育正常后代的机制及相关伦理问题。方法对1例智力低下孕妇抽取外周血,对新生儿抽取脐带血,取200μL提取DNA后采用SNP-array CGH技术进行检测,取1m L进行培养,常规制备染色体,G显带,然后进行核型分析。结果孕妇外周血核型为47,XX,+21;新生儿脐带血染色体核型为46,XX。结论 21三体综合征患者的生殖细胞在发生第一次及第二次减数分裂后能产生正常的单倍体生殖细胞(23,X),与其丈夫正常单倍体生殖细胞(23,X)受精后,能分娩正常核型的婴儿。Objective：To detect the chromosome abnormality from the peripheral blood in a mother with severe intellectual disability and her infant by SNP Array and G- banding karyotype,and to analyze the mechanism of delivery normal offspring of a mother with trisomy 21 and the related ethical issues. Methods：A pregnant woman with severe intellectual disability and her infant were selected,and SNP-array CGH、G- banding karyotype were conducted. Results：The karyotype of the mother with trisomy 21 was 47,XX,＋21,and the karyotype of the neonatal was 46,XX. Conclusion：A mother with trisomy 21 can produce normal haploid germ cells,and after fertilization with the normal haploid germ cells,she can delivery normal karyotype baby.

关 键 词：21三体综合征 核型分析 单核苷酸多态性-微阵列比较基因组杂交技术 

分 类 号：R714.5[医药卫生—妇产科学]