产前诊断22号染色体三体嵌合体病例的遗传学分析  

Prenatal diagnosis and genetic analysis of trisomy 22 mosaicism

作　　者：何霞[1] 郑金宝 陈盼 唐逖 王丽君 龙翼燕 罗慧 唐爽[1] HE Xia;ZHENG Jinbao;CHEN Pan;TANG Ti;WANG Lijun;LONG Yiyan;LUO Hui;TANG Shuang(Department of Prenatal Diagnosis,Mianyang People’s Hospital,Mianyang,Sichuan 621000,China)

机构地区：[1]绵阳市人民医院产前诊断科,四川绵阳621000

出　　处：《中国优生与遗传杂志》2024年第12期2617-2620,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨22号染色体三体嵌合体胎儿的遗传学诊断,提高对22号染色体三体嵌合体的产前诊断及遗传咨询水平。方法回顾性分析1例确诊为22号染色体三体嵌合体胎儿的临床信息、细胞遗传学及分子遗传学检测结果、影像学结果,并结合文献分析此类胎儿的临床表现。结果羊水细胞染色体核型分析结果显示:一线培养失败;另一线中发现22号染色体三体细胞10个,正常细胞90个;全基因组拷贝数变异测序(CNV-seq)结果显示胎儿约93%细胞为22号染色体三体。结论在产前诊断过程中,综合运用超声及多种遗传学检测方法,提高染色体嵌合体的检出率,为遗传咨询和妊娠决策提供依据。Objective To explore the genetic diagnosis of chromosome 22 trisomy chimerism fetuses,and to improve the prenatal diagnosis and genetic counseling of chromosome 22 trisomy chimerism.Methods The clinical information,cytogenetic and molecular genetic test results,and imaging results of one case of a fetus diagnosed with chromosome 22-trisomy chimerism were retrospectively analyzed,and the clinical manifestations of this type of fetus were analyzed in conjunction with the literature.Results The results of amniotic fluid cell karyotyping showed that the culture failed in one line;in the other line,10 cells with chromosome 22 trisomy and 90 normal cells were found;copy number variation sequencing(CNV-seq)results showed that about 93%of the cells in the fetus were chromosome 22 trisomy.Conclusion In prenatal diagnosis,the integrated use of ultrasound and multiple genetic testing methods can improve the detection rate of chromosomal chimeras and provide a basis for genetic counseling and pregnancy decision-making.

关 键 词：22号染色体三体 产前诊断 嵌合体 核型 CNV-seq 

分 类 号：R71[医药卫生—妇产科学]