3例携带微小额外标记染色体的胎儿及其父母染色体核型分析  

Karyotype analysis of three fetuses with small supernumerary marker chromosome and their parents

作　　者：范美荣 顾志乐 宋旭梅 随瑞枝 FAN Meirong;GU Zhile;SONG Xumei;SUI Ruizhi(Department of Medical Experimental Center,General Hospital of Ningxia Medical University,Yinchuan 750004,China;不详)

机构地区：[1]宁夏医科大学总医院医学实验中心,银川750004 [2]宁夏回族自治区银川市第一人民医院大庙社区卫生服务站

出　　处：《山东医药》2022年第18期22-26,共5页Shandong Medical Journal

基　　金：宁夏回族自治区重点研发计划(2019BEG03054)。

摘　　要：目的对3例携带额外微小标记染色体(small supernumerary marker chromosome,sSMC)胎儿的染色体进行遗传学检测和临床效应分析。方法应用传统G显带技术对3例胎儿及其父母外周血进行染色体核型分析,并进一步应用微阵列比较基因组杂交(array comparative genomic hybridization,aCGH)技术明确胎儿sSMC的来源及遗传学效应。结果胎儿1羊水染色体核型结果为47,XX,+mar[78]/46,XX[22],aCGH检测结果为16号染色体p11.2~q11.2区段存在约15.5 Mb的重复,确定为16p11.2微重复综合征。胎儿2羊水染色体核型结果为47,XY,+mar,aCGH检测结果为18号染色体p11.32~p11.21区段存在约15.0 Mb的2次重复,明确分析为18p四体综合征。胎儿3及其父亲的染色体结果均为47,XY,+mar,胎儿aCGH检测结果正常。结论由于sSMC的来源和临床表现的多样性,需要结合细胞和分子遗传学检测技术做出精准的鉴定,才能为胎儿提供更加准确有效的遗传咨询。Objective We performed genetic analysis on chromosomes in 3 fetuses with small supernumerary marker chromosome(sSMC).Methods The karyotypes of three fetuses and their parents were analyzed by conventional G banding technique.Array comparative genomic hybridization(aCGH)technique was performed to determine the source and genetic effect of sSMC.Results The chromosome karyotype of fetus 1 was determined as 47,XX,+mar[78]/46,XX[22].The result of aCGH revealed that there was a 15.5 Mb duplication in 16p11.2-q11.2,and confirmed as 16p11.2 microduplication syndrome.The karyotype of fetus 2 was 47,XY,+mar,aCGH analysis showed a 15.0 Mb double duplication at 18p11.32-p11.21 and confirmed as tetrasomy of chromosome 18p.The karyotype of fetus 3 and his father was 47,XY,+mar,while the result of aCGH for fetus 3 was normal.Conclusion Considering their variable origins and clinical manifestations,the identification of sSMC should combine conventional G banding analysis with molecular genetics detection for precise prenatal genetic counseling.

关 键 词：微小额外标记染色体 染色体核型 微阵列比较基因组杂交 

分 类 号：R714.55[医药卫生—妇产科学]