45,X男性胎儿产前诊断的病例研究  

Genetic analysis of a 45,X male fetus

作　　者：曾艳[1] 程德华[2] 赵坚[1] 钱飞燕[1] 范佳鸣[1] 王婷 张涛[1] Zeng Yan;Cheng Dehua;Zhao Jian;Qian Feiyan;Fan Jiaming;Wang Ting;Zhang Tao(Center for Prenatal Diagnosis,Shaoxing Women and Children’s Health Care Hospital,Zhejiang 312000,China)

机构地区：[1]绍兴市妇幼保健院产前诊断中心,浙江312000 [2]中南大学生殖与干细胞工程研究所,湖南410008

出　　处：《中华医学遗传学杂志》2020年第10期1176-1178,共3页Chinese Journal of Medical Genetics

基　　金：绍兴市公益性技术应用研究计划项目(2018C30039)。

摘　　要：目的回顾分析1例45,X男性胎儿的产前诊断过程。方法孕妇,31岁,孕21周因21三体筛查中等风险接受羊水穿刺。对胎儿进行染色体核型分析、细菌人工染色体微珠标记(BACs-on-Beads™,BoBs)、染色体微阵列芯片、荧光原位杂交等检测。结果胎儿Y染色体短臂整臂易位到一条21号染色体上,核型为45,X,dic(Y;21)(q11;p11).ishdic(Y;21)(SRY+,CEPY+;CEP21+)。结论综合应用BoBs和改良的N显带法有助于正确诊断Y染色体整臂易位的45,X男性胎儿。Objective To analyze the prenatal diagnosis procedure for a 45,X male fetus.Methods A 31-year-old women underwent amniocentesis due to a moderate risk of trisomy 21.The fetal cells were subjected to chromosomal karyotyping,BACs-on-Beads™(BoBs)assay,chromosomal microarray analysis and fluorescence in situ hybridization.Results Combined analyses revealed that the whole of Yp has translocated to 21p,which yielded a fetal karyotype of 45,X,dic(Y;21)(q11;p11).ishdic(Y;21)(SRY+,CEPY+;CEP21+).Conclusion BoBs and modified N-banding method are helpful for the diagnosis of 45,X male fetus with Yp translocation.

关 键 词：45 X男性 染色体易位 荧光原位杂交 

分 类 号：R714.5[医药卫生—妇产科学]