5p缺失综合征胎儿1例的产前诊断  

Prenatal diagnosis for a fetus with 5p deletion syndrome

作　　者：王珺[1] 章卫国[2] 杨欢利[1] 马学娟[3] 李洁娴 陈星[3] Wang Jun;Zhang Weiguo;Yang Huanli;Ma Xuejuan;Li Jiexian;Chen Xing(Reproductive Center,Zhejiang Taizhou Hospital,Taizhou,Zhejiang 317000,China;Central Laboratory,Zhejiang Taizhou Hospital,Taizhou,Zhejiang 317000,China;Department of Obstetrics and Gynecology,Zhejiang Taizhou Hospital,Taizhou,Zhejiang 317000,China)

机构地区：[1]浙江省台州医院生殖中心,台州317000 [2]浙江省台州医院中心实验室,台州317000 [3]浙江省台州医院妇产科,台州317000

出　　处：《中华医学遗传学杂志》2023年第1期101-104,共4页Chinese Journal of Medical Genetics

基　　金：浙江省医药卫生科技计划(2021ky1196);台州恩泽医疗中心(集团)科研基金(19EZD44、20EZA05)。

摘　　要：目的对1例超声影像提示左足足内翻的胎儿进行遗传学分析,探讨其染色体拷贝数变异与临床表型的相关性。方法选取2020年10月14日于台州医院就诊的1例5p缺失综合征胎儿为研究对象。采集胎儿的羊水及其父母的外周血样,进行G显带核型分析,应用拷贝数变异测序(CNV-seq)检测胎儿染色体的微缺失与微重复,进一步用荧光原位杂交(FISH)技术进行家系验证。结果胎儿及其父母的G显带核型分析均未见明显异常,CNV-seq发现胎儿5号染色体存在23.12 Mb的拷贝数缺失,7号染色体存在21.46 Mb的拷贝数重复,FISH进一步验证胎儿母亲为隐匿性t(5;7)(p14.3;q33)携带者,胎儿的拷贝数变异遗传自母亲。结论CNV-seq联合FISH技术能有效诊断出隐匿性5p缺失综合征,避免患儿的出生,为产前遗传咨询提供理论依据。Objective To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography.Methods Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing(CNV-seq).The result was verified by fluorescence in situ hybridization(FISH).Results The fetus and its parents all had a normal karyotype.CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7.FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33)translocation.Conclusion CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations,and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.

关 键 词：5p缺失综合征 拷贝数变异 荧光原位杂交 隐匿性易位 

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