产前2例嵌合型12号染色体三体细胞遗传学分析与临床结局分析  

Cytogenetic analysis and pregnancy outcome analysis on 2 cases of mosaic trisomy 12

作　　者：张忆聪[1] 黎凤珍[1] 吴丽华[1] 李星[1] Zhang Yicong;Li Fengzhen;Wu Lihua;Li Xing(Guangdong Women and Children Hospital,Guangdong,Guangzhou 511400,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2021年第2期42-45,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的联合应用染色体G显带分析和染色体微阵列分析(chromosomal microarray analysis,CMA)产前诊断2例嵌合型12号染色体三体,并分析其临结局,为临床诊断与咨询提供依据。方法超声介导下对2例胎儿进行羊膜腔穿刺,抽取羊水进行G显带分析及CMA检测。结果1例胎儿羊水细胞染色体核型mos 47,XY,+12[1]/46,XY[31],12-三体的比例为3.1%,CMA结果提示12号染色体发生嵌合性重复39%,胎儿因超声发现主动脉弓缩窄伴主动脉弓发育不良进行产前诊断,39+周胎儿娩出,出生后行心脏手术,术后恢复良好,其余临床表型正常;另外1例胎儿羊水细胞染色体核型mos 47,XY,+12[2]/46,XY[26],12-三体的比例为7.1%,CMA结果阴性,因高龄、唐筛临界风险进行产前诊断,39+周胎儿娩出,临床表型正常。结论本案例为羊水细胞中低比例12-三体嵌合体与良好胎儿结局的相关性提供了证据。染色体G显带分析联合应用CMA、荧光原位杂交技术(fluorescence in situ hybridization,FISH)等技术可以对嵌合型12号染色体三体进行诊断。Objective To carry out prenatal diagnosis for two cases of mosaic trisomy 12 using combined G-banded chromosomal karyotyping and chromosomal microarray analysis(CMA),the pregnancy outcomes were analyzed,to provide the basis for clinical diagnosis and consultation.Methods Ultrasonic-mediated amniocentesis was performed on 2 fetuses,and the amniotic fluid was subjected for G-banding chromosomal karyotyping and CMA.Results The karyotype of case 1 was 47,XY,+12[1]/46,XY[31],the proportion of trisomy 12 was 3.1%,the result of CMA indicated that 39%of chimeric duplicates occurred on chromosome 12,the pregnant women underwent amniocentesis because of fetal of aortic arch coarctation with aortic arch dysplasia,the fetus was delivered at 39+weeks,and cardiac surgery was performed after birth,postoperative recovery was good,and other clinical phenotypes were normal;the karyotype of another case was 47,XY,+12[2]/46,XY[26],the proportion of trisomy 12 was 7.1%,the result of CMA was normal,the pregnant women underwent amniocentesis because of advanced age and critical risk of Down’s screening.The fetus was delivered at 39+weeks,and the clinical phenotype was normal.Conclusions The present cases provide evidence for a correlation of low-level trisomy 12 mosaicism in amniocytes with a favorable fetal outcome.G-banded chromosomal karyotyping combined with CMA and fluorescence in situ hybridization(FISH)can be used to diagnose mosaic trisomy 12.

关 键 词：嵌合型12号染色体三体 染色体G显带分析 染色体微阵列分析荧光原位杂交技术 

分 类 号：R714.55[医药卫生—妇产科学]