一例der(X)t(X;Y)(p22.3;q11.2)胎儿的产前诊断及遗传学分析  

Prenatal diagnosis and genetic analysis of a fetus with der(X)t(X;Y)(p22.3;q11.2)

作　　者：李剑[1] 董艳玲 李俊男[1] 骆建云[1] 李春蕾[1] 漆洪波[1] Li Jian;Dong Yanling;Li Junnan;Luo Jianyun;Li Chunlei;Qi Hongbo

机构地区：[1]重庆医科大学附属第一医院妇产科产前诊断中心,400016

出　　处：《中华医学遗传学杂志》2020年第11期1287-1290,共4页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划"生殖健康及重大出生缺陷防控研究"重点专项(2018YFC1002904)。

摘　　要：目的对1例无创性DNA检测提示性染色体异常胎儿进行产前诊断和遗传学分析,探讨其病因及遗传学特征。方法综合应用染色体G显带核型分析技术、BoBs(BACs-on-Beads)技术及单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)检测胎儿的染色体结构异常,并对其父母的外周血染色体核型进行分析。结果G显带核型分析显示,胎儿及其母亲染色体核型为46,X,add(X)(p22),而父亲外周血染色体核型未见异常。羊水BoBs结果提示胎儿染色体存在Xp22的缺失,且有Yq11片段存在。SNP-array检测进一步明确,胎儿及其母亲的衍生X染色体短臂存在7.13 Mb的缺失(p22.33p22.31,608021-7736547),同时附着有Y染色体长臂12.52 Mb的拷贝(q11.221q11.23,16271151-28788643)。结论胎儿衍生X染色体遗传自母亲,核型为46,X,der(X)t(X;Y)(p22.3;q11.2)mat。多种产前诊断方法的联合应用,有利于确定胎儿染色体结构异常类型及来源,为预测胎儿发生畸形的风险及后续妊娠的选择提供帮助。Objective To explore the pathogenesis and genetic characteristics of a fetus with a der(X)t(X;Y)(p22.3;q11.2)karyotype.Methods G-banding karyotyping analysis,BoBs(BACs-on-Beads)assay,and single nucleotide polymorphism array(SNP-array)were used to delineate the structural chromosomal aberration of the fetus.The parents of the fetus were also subjected to karyotyping analysis.Results The fetus and its mother were both found to have a karyotype of 46,X,add(X)(p22),while the father was normal.BoBs assay indicated that there was a lack of Xp22 but a gain of Yq11 signal.SNP-array confirmed that the fetus and its mother both had a 7.13 Mb deletion at Xp22.33p22.31(608021-7736547)and gain of a 12.52 Mb fragment at Yq11.221q11.23(16271151-28788643).Conclusion The fetus was determined to have a karyotype of 46,X,der(X)t(X;Y)(p22.3;q11.2)mat.The combined use of various methods has facilitated delineation of the fetal chromosomal aberration and prediction of the risk prediction for subsequent pregnancy.

关 键 词：Xp/Yq易位 单核苷酸多态性微阵列检测技术 产前诊断 BoBs技术 

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