一例Xq25微重复胎儿的遗传学分析及产前诊断  

Genetic analysis and prenatal diagnosis of a fetus with Xq25 microduplication

作　　者：景象一 潘敏 李茹 张永玲 黎福成 李东至 廖灿 Jing Xiangyi;Pan Min;Li Ru;Zhang Yongling;Li Fucheng;Li Dongzhi;Liao Can(Prenatal Diagnostic Center,Guangzhou Women and Children’s Medical Centre,Guangzhou,Guangdong 510623,China)

机构地区：[1]广州市妇女儿童医疗中心产前诊断中心,广州510623

出　　处：《中华医学遗传学杂志》2022年第4期425-427,共3页Chinese Journal of Medical Genetics

摘　　要：目的明确1例产前超声提示有脑结构畸形的胎儿的遗传学病因,并分析其染色体拷贝数与表型的关系。方法应用常规G显带和染色体微阵列分析技术(chromosomal microarray analysis,CMA)对胎儿及其父母进行分析。结果胎儿及其父母染色体核型分析未见异常。CMA检测结果提示胎儿存在Xq25(chrX:123157101-123350854,hg19)区段194 kb的微重复,包含STAG2基因第4~35外显子,遗传自无异常表型的母亲。结论包含STAG2基因部分外显子的Xq25区段重复可能是导致胎儿表型的原因。本研究结果为Xq25微重复基因型与表型的关联提供了一定的依据。Objective To explore the genetic basis for a fetus with structural brain abnormalities.Methods The karyotypes of the fetus and its parents were analyzed by conventional G-banding.Chromosome microarray analysis(CMA)was carried out to detect chromosomal microdeletion and microduplication.Results No kartotypic abnormality was detected in the fetus and its parents.CMA has identified a 194 kb microduplication at Xq25 in the fetus,which encompassed exons 4-35 of the STAG2 gene and was derived from its mother.Conclusion The Xq25 duplication encompassing part of the STAG2 gene probably underlay the brain malformation in the fetus.

关 键 词：Xq25微重复 STAG2基因 产前诊断 染色体微阵列分析 脑结构畸形 

分 类 号：R714.5[医药卫生—妇产科学]