等臂假双着丝粒46,X,psu idic(X)(q21.32)/45,X嵌合型Turner综合征胎儿1例的遗传学分析  

Genetic analysis of a turner syndrome fetus with 46,X,psu idic(X)(q21.32)/45,X mosaicism

作　　者：孙晓仙 金华[1] 马晓晨[1] 陶靖[1] 赵博文 鲁婷[1] Sun Xiaoxian;Jin Hua;Ma Xiaochen;Tao Jing;Zhao Bowen;Lu Ting(Center of Prenatal Diagnosis,Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University,Jinan 250000,China)

机构地区：[1]山东第一医科大学附属济南市妇幼保健院产前诊断中心,济南250000

出　　处：《国际遗传学杂志》2024年第5期411-420,共10页International Journal of Genetics

基　　金：山东省医药卫生科技发展计划(202105030122);2023年度济南市临床医学科技创新计划(202328018)。

摘　　要：目的探讨1例46,X,psu idic(X)(q21.32)/45,X嵌合型特纳综合征(Turner syndrome,TS)胎儿的遗传学特征。方法选择1例2024年1月在山东第一医科大学附属济南市妇幼保健院接受介入性羊水产前诊断并确诊为等臂假双着丝粒X染色体46,X,psu idic(X)(q21.32)与45,X嵌合型TS胎儿为研究对象。收集胎儿的无创产前检测(non-invasive prenatal testing,NIPT)、超声等临床资料,通过G显带、C显带核型分析、荧光定量PCR(quantitative fluorescent polymerase chain re-action,QF-PCR)、荧光原位杂交(fluorescence in situ hybridization,FISH)及单核苷酸多态性微阵列(single nucleotide polymorphisms array,SNP-array)分析,对胎儿进行遗传学检测。结果NIPT提示胎儿X染色体数目减少;染色体核型结果为mos 46,X,psu idic(X)(q21.32)[77]/45,X[23];QF-PCR结果为XXX;FISH结果为mos 46,X,psu idic(X).ish(CSPX+++)[33]/45,X.ish(CSPX+)[17];SNP-array结果提示胎儿在Xp22.33-q21.32处发生长度约为92.955 Mb的重复,在Xq21.32-q28处发生长度约为62.098 Mb的缺失。结论通过染色体G显带、C显带核型分析、QF-PCR、FISH及SNP-array等多种产前诊断检测技术的联合应用,可以对胎儿异常X染色体数目,结构及致病性进行鉴别诊断,对由X染色体结构异常引起的TS的遗传咨询提供参考依据。Objective To investigate genetic characteristics of a turner syndrome(TS)fetus with 46,X,psu idic(X)(q21.32)/45,X mosaicism.Methods A TS fetus with 46,X,psu idic(X)(q21.32)/45,X mosaicism who were diagnosed at the Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University January 2024 was seleted as the study subjects.Clinical data such as non-invasive prenatal testing(NIPT)and ultrasonography of the fetus were collected.G-banded karyotyping,C-banded karyotyping,quantitative fluorescent polymerase chain reaction(QF-PCR),fluorescence in situ hybridization(FISH)and single nucleotide polymorphisms array(SNP-array)were carried out for the fetus.Results The result of NIPT indicated that the fetus has a deletion of X chromosome.Chromosomal karyotyping was mos 46,X,psu idic(X)(q21.32)[77]/45,X[23].The result of QF-PCR was XXX.FISH showed that the fetus was mos 46,X,psu idic(X).ish(CSPX+++)[33]/45,X.ish(CSPX+)[17].SNP-array has revealed a 92.955 Mb triplication at Xp22.33-q21.32 and a 62.098 Mb deletion at Xq21.32q28.Conclusion The number,structure and pathogenicity of the abnormal X chromosome can be clarified by the combination of chromosomal karyotyping,QF-PCR,FISH and SNP-array which provides guidance for the genetic counseling of TS with X chromosome aberration.

关 键 词：TURNER综合征 假双着丝粒X染色体 遗传学 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]