X染色体微小结构异常1例患者的遗传学诊断及配偶妊娠结局  

Genetic diagnosis of one patient with microstructural abnormalities of the X chromosome and the pregnancy outcome of his spouse

作　　者：吴彤华 邹淑玲 朱文洁 杨静 关美和 李红燕 陈春媚 莫美兰 Wu Tonghua;Zou Shuling;Zhu Wenjie;Yang Jing;Guan Meihe;Li Hongyan;Chen Chunmei;Mo Meilan(Clinical Laboratory Center,Shenzhen Zhongshan Urology Hospital Shenzhen Zhongshan Institute for Reproduction and Genetics Shenzhen Key Laboratory of Reproductive Immunology for Peri-implantation,Shenzhen 518045,China;Reproductive Medicine Center,Shenzhen Zhongshan Urology Hospital,Shenzhen 518045,China)

机构地区：[1]深圳中山泌尿外科医院检验中心、深圳中山生殖与遗传研究所、深圳市围着床期生殖免疫重点实验室,深圳518045 [2]深圳中山泌尿外科医院生殖医学中心,深圳518045

出　　处：《中华生殖与避孕杂志》2024年第3期296-299,共4页Chinese Journal of Reproduction and Contraception

基　　金：深圳市基础研究项目(JCYJ20210324121807021)。

摘　　要：目的探讨多种细胞与分子遗传学技术的联合应用在诊断染色体微小结构异常病例中的临床应用价值。方法先证者,男,30岁。因未避孕未孕7年于2021年7月至深圳中山泌尿外科医院生殖医学中心就诊。通过常规G显带技术分析染色体核型,发现1例疑似X染色体发生微小结构畸变。运用高分辨G显带技术、拷贝数变异测序(copy number variation sequencing,CNV-seq)、C显带技术分析及荧光原位杂交(fluorescencein situ hybridization,FISH),明确染色体结构畸变来源及结构特征。随访该病例妊娠结局。结果外周血淋巴细胞常规G显带染色体核型最初诊断为46,Y,?inv(X)(p22.3p22.2)。经高分辨G显带染色体核型分析、CNV-seq、C显带分析及FISH检测确诊最终核型为46,Y,der(X)t(X;Y)(p22.3;q12)mat。先证者配偶通过体外受精-胚胎移植技术助孕,单胎妊娠。产前诊断羊水核型为46,X,der(X)t(X;Y)(p22.3;q12)pat,宫内超声胎儿未见异常。婴儿出生后一个月随访表型正常。结论多种细胞与分子遗传学技术的联合应用,为确诊染色体微小结构畸变提供了可信的技术平台,为评估该类患者的表型、预后及子代风险等提供重要的遗传学依据。Objective To explore the clinical application value of multiple cytogenetic and molecular genetic techniques in the diagnosing of chromosomal microstructural abnormalities.Methods The proband was a 30-year-old man.He went to Reproductive Medicine Center of Shenzhen Zhongshan Urology Hospital in July 2021 because of a 7-year history of primary infertility.Chromosome karyotype was analyzed by conventional G-banding technique.One case was found to be suspected of microstructural aberration in X chromosome.The origin and structural characteristics of this X chromosome structural aberration was identified by high-resolution G-banding,copy number variation sequencing(CNV-seq),C-banding and fluorescence in situ hybridization(FISH).The pregnancy outcome of this case was followed up.Results Conventional G-banding karyotype of peripheral blood lymphocytes was initially diagnosed as 46,Y,?inv(X)(p22.3p22.2).The final karyotype of proband was interpreted as 46,Y,der(X)t(X;Y)(p22.3;q12)mat by high-resolution G-banding karyotype analysis,CNV-seq,C-banding analysis and FISH detection.His spouse had conceived singleton pregnancy via in vitro fertilization and embryo transfer.Prenatal diagnosis had been performed.Karyotype of amniotic fluid was 46,X,der(X)t(X;Y)(p22.3;q12)pat.No structural malformation was detected prenatally by ultrasound.The neonate was phenotypically normal one month after birth.Conclusion The combined application of multiple cytogenetic and molecular genetic techniques can provide a reliable technical platform for characterizing the microscopic structural aberrations of chromosomes,and an important genetic basis for exploring the phenotype,prognosis and offspring risk of such patients.

关 键 词：荧光原位杂交 染色体核型分析 G显带 C显带 拷贝数变异 

分 类 号：R596.1[医药卫生—内科学]