1例罕见母源性11q及22q部分三体胎儿的产前诊断及遗传学分析  

Prenatal genetic diagnosis for a fetus with partial trisomy 11q and 22q of maternal origin

作　　者：臧伟伟 高明雅 李蕊蕊 刘晓飞 王亚男 ZANG Weiwei;GAO Mingya;LI Ruirui;LIU Xiaofei;WANG Yanan(Department of Medical Genetics and Prenatal Diagnosis,Luoyang Maternal and Child Health Hospital,Luoyang,Henan 471000,China)

机构地区：[1]洛阳市妇幼保健院遗传与产前诊断科,河南洛阳471000

出　　处：《中国优生与遗传杂志》2023年第4期796-799,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 对1例血清学筛查21三体高风险伴有侧脑室增宽的胎儿进行遗传学诊断。方法 联合应用常规G显带核型分析技术及CNV-seq测序技术对胎儿进行遗传学检测,并对双亲进行外周血染色体核型分析以明确胎儿染色体异常的来源。结果 胎儿染色体初步为47,XX,+mar。CNV-seq结果提示胎儿11q23.3-11q25存在18.25Mb重复,22q11.21-22q11.21存在1.35Mb重复。胎儿父亲染色体正常,母亲染色体为46,XX,t(11;22)(q23;q11.2)。胎儿核型结果最终确定为47,XX,+der(22)t(11;22)(q23;q11.2)。结论 胎儿携带有母源性11q部分三体和22q部分三体,可能导致严重的临床表型;明确胎儿的遗传学病因,指导家庭再次生育。Objective To carry out prenatal diagnosis for a fetus with high risk of trisomy 21 serological screening and lateral ventriculomegaly.Methods G-banding karyotype analysis and CNV-seq technology were performed to detect the fetal amniotic fluid,and their parents were analyzed for peripheral blood karyotype to determine the reason for fetal Chromosome abnormality.Results The fetus was found to have a 47,XX,+mar karyotyping.CNV-seq revealed a 18.25 Mb duplication at 11q23.3-11q25 and 1.35 Mb duplication at 22q11.21-22q11.21.The father was found to be normal by chromosomal karyotyping and the mother’s chromosome karyotype was 46,XX,t(11;22)(q23;q11.2).The fetus was ultimately found to have a karyotype of 47,XX,+der(22)t(11;22)(q23;q11.2).Conclusion The fetus carried maternal partial trisomy 11q variation and 22q variation,Identifying the genetic cause of the fetus enabled us to provide guidance for the family’s next birth.

关 键 词：染色体核型分析 CNV-seq 11q部分三体 22q11部分三体 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]