一例46,X?,+der(13)t(13;21)(q32;q21)dmat,-21胎儿的产前诊断及遗传学分析  

Prenatal Diagnosis and Genetic Analysis of A Fetus with 46,X?,+der(13)t(13;21)(q32;q21)dmat,-21

作　　者：王丽 卢俊杰 周鹏 胡华 WANG Li;LU Jun-jie;ZHOU Peng;HU Hua(The Second Hospital Affiliated to Army Medical University,Chongqing 400037,China)

机构地区：[1]陆军军医大学第二附属医院,重庆400037

出　　处：《国际生殖健康／计划生育杂志》2023年第6期450-453,共4页Journal of International Reproductive Health/Family Planning

基　　金：中国人民解放军陆军军医大学研究生教育教学改革研究项目(2018yjgA010)。

摘　　要：13-三体综合征是由13号染色体完全或部分三体引起的一种严重且罕见的染色体疾病,发病率为1.68/10000,其中13q部分三体占1%,母源性13q部分三体及21q部分单体的胎儿更为罕见。报告1例孕妇因妊娠23+1周超声提示胎儿发育异常,于陆军军医大学第二附属医院进一步行产前诊断及遗传学分析。超声示胎儿主动脉瓣下室间隔缺损,双上腔静脉及椎体骨化异常;羊水核型分析结果为46,X?,+der(13)t(13;21)(q32;q21)dmat,-21,基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)结果显示seq[hg19]dup(13)(q11q32.1)chr13:g.19440000_97680000dup和seq[hg19]del(21)(q11.2q21.1)chr21:g.15060000_22020000del;母亲染色体核型为46,XX,t(13;21)(q32;q21)。胎儿染色体异常由母亲染色体平衡易位导致,是胎儿心脏发育异常的主要原因。临床上综合应用染色体核型分析和CNV-seq可以明确染色体异常的来源和性质,为遗传咨询及生育指导提供依据。13-trisomy syndrome is a serious and rare chromosomal disease caused by complete or partial trisomy of chromosome 13.The prevalence is about 1.68/10000,of which 13-trisomy syndrome caused by partial trisomy 13q accounts for 1%.The maternal partial trisomy 13q and partial monosomy 21q are even less.We reported a pregnant woman undergoing further prenatal diagnosis and genetic analysis in the Second Hospital Affiliated to Army Medical University,due to the abnormal fetal development indicated by ultrasound at 23+1 weeks of gestation.Ultrasound showed the subvalvular aortic ventricular septal defect,double superior vena cava and abnormal ossification of vertebral body.The karyotype of amniotic fluid was 46,X?,+der(13)t(13;21)(q32;q21)dmat,-21.Copy number variation sequencing(CNV-seq)showed seq[hg19]dup(13)(q11q32.1)chr13:g.19440000_97680000dup and seq[hg19]del(21)(q11.2q21.1)chr21:g.15060000_22020000 del.The maternal karyotype was 46,XX,t(13;21)(q32;q21).Fetal chromosomal abnormalities were caused by the mother′s chromosomal balance translocation,which was the main reason of fetal heart development abnormalities.The comprehensive application of chromosome karyotype analysis and CNV-seq can identify the origin and nature of chromosome abnormalities,and provide a basis for genetic counseling and reproductive guidance.

关 键 词：三体性 单体性 先天畸形 核型分析 DNA拷贝数变异 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]