嵌合型Y染色体等臂双着丝粒致胎儿主动脉狭窄1例报告及文献复习  

Aortic stenosis of fetus caused by chimeric Y-chromosome isobaric double-adherent granules:A case report and literature review

作　　者：全宇璐 张萍萍 罗艳 霍竞 余小平[2] 孙艳美[2] 李亚丽[2] QUAN Yuu;ZHANG Pingping;LUO Yan;HUO Jing;YU Xiaoping;SUN Yanmei;LI Yai(Graduate School,Hebei North University,Zhangjiakou 075000,China;Department of Reproductive and Genetics,People’s Hospital,Hebei Province,Shijiazhuang 050051,China)

机构地区：[1]河北北方学院研究生院,河北张家口075000 [2]河北省人民医院生殖遗传科,河北石家庄050051

出　　处：《吉林大学学报（医学版）》2024年第1期260-264,共5页Journal of Jilin University：Medicine Edition

基　　金：河北省科技厅项目(22377792D)。

摘　　要：目的:通过对先天性主动脉狭窄(AS)胎儿产前诊断结果进行遗传学分析,明确其可能的致病原因。方法:1例孕25周孕妇,因“胎儿AS”行羊膜腔穿刺术采集羊水,行染色体G显带核型分析联合单核苷酸多态性微阵列(SNP-array)检测。同时采集胎儿父母外周血,行染色体核型分析。结果:胎儿核型分析,为嵌合型Y染色体等臂双着丝粒;SNP-array分析,胎儿染色体Yp11.31q11.21区段存在11.2 Mb片段的重复,同时Yq11.21q11.23区段存在14.8 Mb片段的缺失。胎儿父母均为正常核型,考虑其为新发变异。经充分遗传咨询后,孕妇及家属选择回当地引产。结论:嵌合型Y染色体等臂双着丝粒的染色体核型可能是男性胎儿表型为AS的原因,羊水细胞染色体核型分析联合SNP-array检测有助于该病的早期诊断。Objective:To confirm the potential etiological factors of congenital aortic stenosis(AS)by genetic analysis on prenatal diagnostic results of the fetus with AS.Methods:Amniocentesis for chromosomal G-band karyotyping combinated with single nucleotide polymorphism array(SNP-array)analysis was conducted on the amniotic fluid collected from a 25-week pregnant woman diagnosed as“fetus AS”;chromosome karyotyping was also performed on the peripheral blood of the fetal parents.Results:The fetal karyotype analysis showed a chimeric Y-chromosome isobaric double-adherent granules.The SNP-array analysis results revealed a 11.2 Mb duplication in the Yp11.31q11.21 region and a 14.8 Mb deletion in the Yq11.21q11.23 region.Both the parents presented a normal karyotype,suggesting it was a newfound mutation.After extensive genetic counseling,the pregnant woman and her family chose to terminate the pregnancy locally.Conclusion:The chromosomal karyotype of the chimeric Y-chromosome isobaric double-adherent granules may be a contributing factor to the AS phenotype in the male fetus.The combined use of chromosomal karyotyping and SNP-array analysis on the amniotic cells is instrumental in the early diagnosis of the disease.

关 键 词：胎儿 先天性心脏病 主动脉狭窄 产前诊断 嵌合型Y染色体等臂双着丝粒 

分 类 号：R714.53[医药卫生—妇产科学]