一例由母源18号染色体倒位引发的18q部分三体综合征患儿的产前遗传学诊断与分析  

Prenatal genetic diagnosis in a fetus with partial trisomy 18q that inherited from his mother’s chromosomal rearrangement

作　　者：卢惠[1,2,3,4,5] 黎明红[1,2,3,4,5] 薛欣怀 王关辉 云天英[1,2,3,4,5] 马燕琳[1,2,3,4,5] LU Hui;LI Ming-Hong;XUE Xin-huai;WANG Guan-hui;YUN Tian-ying;MA Yan-lin(Hainan Provincial Key Laboratory for human reproductive medicine and Genetic Research,The First Affiliated Hospital of Hainan Medical University,Hainan Medical University,Haikou,Hainan,China;Department of Reproductive Medicine,The First Affiliated Hospital of Hainan Medical University,Hainan Medical University,Haikou,Hainan,China;Hainan Provincial Clinical Research Center for thalassemia,The First Affiliated Hospital of Hainan Medical University,Hainan Medical University,Haikou,Hainan,China;Key Laboratory of Tropical Translational Medicine of Ministry of Education,Hainan Medical University,Haikou,Hainan,China;Haikou Key Laboratory for Preservation of Human Genetic Resource,The First Affiliated Hospital of Hainan Medical University,Hainan Medical University,Haikou,Hainan,China)

机构地区：[1]海南医学院第一附属医院海南省人类生殖与遗传重点实验室,海南海口570102 [2]海南医学院第一附属医院生殖医学科,海南海口570102 [3]海南医学院第一附属医院海南省地方病(地中海贫血)临床医学研究中心,海南海口570102 [4]海南医学院热带转化医学教育部重点实验室,海南海口570102 [5]海南医学院第一附属医院海口市人类遗传资源保藏重点实验室,海南海口570102

出　　处：《海南医学院学报》2019年第20期1585-1588,共4页Journal of Hainan Medical University

基　　金：海南省重大科技计划项目(ZDKJ2017007);国家国际科技合作专项项目(2014DFA30180);国家自然科学基金(81660433);海南省自然科学基金(818QN315)~~

摘　　要：目的:报告1例由于母源性18号染色体臂间倒位导致的2次自然流产、1次引产的病例,并对胎儿羊水行细胞遗传学检测与分析。方法:联合运用传统的G显带染色体核型分析和全基因组测序技术。结果:胎儿羊水染色体核型为46,XY,rec(18),dup(18)(q12.3q23);孕妇核型46,XX,inv(18)(P11.3q12);其丈夫核型正常。结论:在1个有不良生育史家系的胎儿中检测出一个染色体18q部分三体变异,为1例少见的染色体18q部分三体综合征的产前病例报道。运用传统的染色体核型分析检测的同时结合全基因组测序技术,对预防不良家系中胎儿出生缺陷的产前诊断中具有重要的临床应用价值。Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performed.Methods:Traditional chromosome karyotype and whole-genome sequencing(WGS)was used to process karyotyping and genomic microdeletion and microduplication analysis.Results:the result of fetal amniotic fluid chromosome karyotype is 46,XY,rec(18),dup(18)(q12.3q23);his mother's chromosome karyotype is 46,XX,inv(18)(P11.3q12);and his father's chromosome karyotype is normal.Conclusions:A male newborn with partial trisomy 18q variation was detected in a fetus whose mother with abnormal pregnancy history,that was combined with traditional chromosome karyotype and WGS.The WGS technology has an important clinical value in the prevention of fetal birth defects of abnormal pregnancy history family in prenatal diagnosis.

关 键 词：染色体倒位 18q部分三体综合征 产前诊断 细胞遗传学 

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