父源性3q微重复综合征胎儿的产前诊断及遗传学分析  

Prenatal diagnosis and genetic analysis of three fetuses with paternal chromosomal simplex 3q microduplication syndrome

作　　者：郑来萍[1] 任丛勉 许芳梅 郭莉[1] 王挺[1] 何轶群[1] Zheng Laiping;Ren Congmian;Xu Fangmei;Guo Li;Wang Ting;He Yiqun(Medical Genetic Center,Guangdong Women and Children′s Hospital,Guangzhou,Guangdong 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广州511442

出　　处：《中华医学遗传学杂志》2022年第12期1406-1409,共4页Chinese Journal of Medical Genetics

基　　金：广州市基础与应用基础研究计划(202102080233)。

摘　　要：目的:探讨父源性单纯性3q微重复综合征胎儿的表型特征及遗传学病因,为家系的遗传咨询提供依据。方法:联合应用羊水细胞高分辨染色体G显带核型分析和染色体微阵列分析(chromosomal microarray analysis,CMA)对来自同一家庭的3例胎儿进行产前诊断,采集父母的外周血样,通过CMA检测确定其变异的亲代来源。结果:3例胎儿的染色体核型均为46,XN,dup(3)(q25q26.1)。CMA提示其为arr[hg19]3q25.33q26.1(159336333-166924969)×3,均遗传自父亲,母亲未见明显异常。结论:联合G显带核型和CMA分析明确了3例胎儿的父源性3q25.33-q26.1微重复,为该家系的产前诊断和遗传咨询提供了依据。Objective To explore the phenotypic characteristics of paternal chromosomal simplex 3q microduplication syndrome.Methods Amniotic fluid samples of 3 fetuses from a same couple were subjected to prenatal diagnosis through combined high-resolution chromosomal G-banding karyotyping and chromosomal microarray analysis(CMA).Peripheral blood samples were also collected the couple for the determination of parental origin.Results The karyotypes of all three fetuses were 46,XN,dup(3)(q25q26.1),and their CMA results were arr[hg19]3q25.33q26.1(159336333-166924969)×3.The duplication in the three fetuses have all derived from their father.No anomaly with found with the mother by CMA.Conclusion Through combined G-banded chromosomal karyotyping and CMA assay,a paternally derived 3q25.33-q26.1 microduplication has been identified,which has enabled genetic counseling for this couple.

关 键 词：产前诊断 染色体微阵列分析 染色体核型 3q微重复 遗传咨询 

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