环状染色体综合征孕妇的遗传学分析及产前诊断  

Genetic analysis and prenatal diagnosis of pregnant women with ring chromosome syndrome

作　　者：任慧颖 张凯[1] 王芳[1] 李朔[1] REN Huiying;ZHANG Kai;WANG Fang;LI Shuo(Genetic Testing Center,Women and Children's Hospital Affiliated to Qingdao University,Qingdao,Shandong 266034,China)

机构地区：[1]青岛大学附属妇女儿童医院基因检测中心,山东青岛266034

出　　处：《中国优生与遗传杂志》2023年第12期2489-2494,共6页Chinese Journal of Birth Health & Heredity

基　　金：青岛市临床重点专科建设项目。

摘　　要：目的对2例智力低下的孕妇进行细胞及分子遗传学检测,寻找致病原因,并对其胎儿进行产前诊断。方法收集2例孕妇的临床资料,对其进行外周血细胞染色体G显带核型分析和(或)染色体微阵列分析(CMA),并对其胎儿进行相应的产前诊断。结果病例1:孕妇外周血染色体核型为46,XX,r(6)(p25.3q27)[82]/45,XX,-6[11]/46,XX,dic r(6;6)(p25.3q27;p25.3q27)[6]/46,XX,-6,+mar[1],CMA结果为arr[hg19]6p25.3(156,974-302,273)×1,6q27(166,612,359-170,914,297)×1;其胎儿羊水细胞染色体核型为46,XN,CMA结果为arr[hg19]16p11.2(29,591,326-30,177,240)×3。病例2:孕妇外周血染色体核型为46,XX,r(13)(p12q34)[77]/46,XX,dic r(13;13)(p12q34;p12q34)[13]/45,XX,-13[9]/46,XX[1],未行CMA检测;其胎儿羊水细胞染色体核型为46,XN,CMA结果正常。结论通过外周血染色体核型分析尤其是结合CMA结果可以明确孕妇智力低下的原因,这对其遗传咨询具有重要意义,并可指导其进行相应的产前诊断,减少异常患儿的出生。Objective The aim of this study was to perform cytogenetic and molecular genetic analyses in two pregnant women with mental retardation in order to identify the causative agent and provide prenatal diagnosis of their fetuses.Methods Clinical data of the two pregnant women were collected and peripheral blood cell chromosome G-banding karyotype analysis were performed and/or chromosomal microarray analysis(CMA),corresponding prenatal diagnosis were performed on their fetuses.Results Case 1:The peripheral blood karyotype of the pregnant woman revealed46,XX,r(6)(p25.3q27)[82]/45,XX,-6[11]/46,XX,dic r(6;6)(p25.3q27;p25.3q27)[6]/46,XX,-6,+mar[1].The CMA analysis result showed arr[hg19]6p25.3(156,974-302,273)×1,6q27(166,612,359-170,914,297)×1.Additionally,the karyotype of her fetal amniotic fluid cells was 46,XN,and the result of the CMA analysis was arr[hg19]16p11.2(29,591,326-30,177,240)×3.Case 2:The mother's peripheral blood karyotype revealed 46,XX,r(13)(p12q34)[77]/46,XX,dic r(13;13)(p12q34;p12q34)[13]/45,XX,-13[9]/46,XX[1]and no CMA test was performed,the karyotype of her fetal amniotic fluid cells was 46,XN,CMA test showed normal analysis.Conclusion The combination of the peripheral blood karyotype analysis and CMA results can effectively identify the cause of the maternal mental retardation.This information is crucial for genetic counseling and can guide appropriate prenatal diagnosis,ultimately reducing the occurrence of abnormal children.

关 键 词：环状染色体 染色体核型分析 染色体微阵列分析 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]