MECP2重复综合征的产前临床表型及遗传学分析  

Prenatal clinical phenotype analysis and literature review of MECP2 duplication syndrome

作　　者：何凌 韦庆芳[1] 卢庆[1] He Ling;Wei Qing fang;Lu Qing(Department of Obstetrics,Nanning Second People's Hospital,Nanning Guangri 530031,China)

机构地区：[1]南宁市第二人民医院产科,广西南宁530031

出　　处：《中国产前诊断杂志（电子版）》2024年第1期29-35,共7页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的 探讨1例新发MECP2重复综合征产前病例和遗传咨询。方法 应用常规G显带染色体核型分析和拷贝数变异测序(copy number variation sequencing, CNV-Seq)对胎儿羊水样本检测,对胎儿进行系统超声检查,夫妇行外周血CNV-seq明确胎儿基因组变异来源,并对相关文献资料进行复习。结果 系统超声检查提示胎儿右侧肾盂分离(12mm)。胎儿染色体核型分析未见异常。羊水CNV-seq结果:seq[hg19]dup(X)(q28q28) chrX:g.153 140 000_153 400 000dup, Xq28区段存在约260 kb的拷贝数重复,夫妇外周血CNV-seq检查未见异常,提示胎儿为新发MECP2重复综合征。结论 MECP2重复综合征在胎儿期缺乏特异的超声表现,CNV-seq可有效检出MECP2重复综合征,为其产前诊断和遗传咨询提供依据。Objective To explore the prenatal diagnosis and genetic counseling for a case of de novo MECP2 duplication syndrome.Methods Routine G-banding karyotyping and CNV-seq were used to detect fetal amniotic fluid samples,and systematic ultrasound examination was performed on the fetus.CNV-seq of peripheral blood of the couple was performed to determine the source of fetal genomic variation,and the relevant literature was reviewed.Results Systematic ultrasound examination suggested right renal pelvis separation in the fetus.Fetal chromosome karyotype analysis showed no abnormality.The CNV-Seq results of the fetus were seq[hg19]dup(X)(q28q28)chrX:g.153140000_153400000dup,revealing a 260 Kb duplication at Xq28.CNV-seq of the couple's peripheral blood showed no abnormalities,suggesting that the fetus was a de novo MECP2 duplication syndrome.Conclusion MECP2 duplication syndrome lacks specific ultrasound manifestations in fetus.CNV-seq can effectively detect MECP2 duplication syndrome,which provides a basis for prenatal diagnosis and genetic counseling.

关 键 词：MECP2重复综合征 产前诊断 CNV-seq 胎儿 

分 类 号：R715.5[医药卫生—妇产科学]