一例Xp22.12微重复胎儿的产前诊断及遗传学分析  

Prenatal diagnosis and genetic analysis of a fetus with Xp22.12 microduplication

作　　者：曾丽娜[1] 许青[1] 李励军[1] 吴凌飞 Zeng Lina;Xu Qing;Li Lijun;Wu Lingfei(The Affiliated Hospital of Putian College,Putian,Fujian 351100,China)

机构地区：[1]莆田学院附属医院,351100

出　　处：《中华医学遗传学杂志》2020年第8期863-866,共4页Chinese Journal of Medical Genetics

基　　金：福建省卫生计生委青年科研课题(2016-2-55);莆田学院校内科研项目(2016058)。

摘　　要：目的:应用单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)技术为1例携带染色体平衡易位的孕妇提供产前诊断。方法:采用常规G显带染色体分析和SNP-array对胎儿及其父母进行分析。结果:SNP-array检测结果显示胎儿染色体Xp22.12区存在496.3 kb的片段重复,临床意义不明;表型正常的母亲染色体Xp22.12区相同位置存在505.8 kb的重复,父亲检测结果未见异常。胎儿足月经剖宫产出生,随访未见异常。结论:Xp22.12微重复区包含RPS6KA3基因的部分区段,因而表现为不同程度的Coffin-Lowry综合征症状,少部分Xp22.12微重复女性可因X染色体失活而成为无症状的携带者,本研究为Xp22.12微重复表型与基因型的关联提供了一定的依据。Objective To provide prenatal diagnosis for a pregnant women carrying a chromosome translocations using single nucleotide polymorphism array(SNP-array).Methods The fetus and its parents were subjected to chromosome karyotyping and SNP array analysis.Results A Xp22.12 microduplication was identified in the fetus with a size of 496.3 kb.Search of literature and database indicated the microduplication to be variant of unclear significance.The phenotypically normal mother has carried a 505.8 kb duplication at the same position.The father was normal for the testing.The couple decided to continue with the pregnancy and gave birth to a healthy girl at full-term.No abnormality was found during the follow-up.Conclusion The Xp22.12 microduplication encompassed part of RPS6KA3 gene,which shows various features of Coffin-Lowry syndrome.Female with Xp22.12 microduplications may be asymptomatic carriers due to X chromosome inactivation.Our case may provide data for delineating the phenotype-genotype correlation of Xp22.12 microduplication.

关 键 词：Xp22.12微重复 产前诊断 单核苷酸微阵列芯片 Coffin-Lowry综合征 RPS6KA3基因 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]