母源性平衡易位t(3;7)致胎儿发育异常的遗传学分析  

Genetic analysis of fetal developmental abnormalities derived from a balanced t(3;7)maternal translocation

作　　者：吴秋华 石凤蕊 王瑞 王林 白霞 强荣 Wu Qiuhua;Shi Fengrui;Wang Rui;Wang Lin;Bai Xia;Qiang Rong(Center of Medical Genetics,Northwest Women’s and Children’s Hospital,Xi’an 710061,China)

机构地区：[1]西北妇女儿童医院医学遗传中心,西安710061

出　　处：《国际遗传学杂志》2024年第3期238-242,共5页International Journal of Genetics

基　　金：陕西省重点研发计划项目(S2023-YF-YBSF-305)

摘　　要：目的对1例因母亲染色体t(3;7)平衡易位致其发育异常的胎儿病例进行遗传学分析,探讨其表型与基因型的相关性。方法采用染色体核型分析和染色体微阵列分析(chromosomal microarray analysis,CMA)技术对胎儿羊水细胞进行检测。结果胎儿染色体核型为46,XY,rec(3)(7pter→7p14.3::3p26.3→3qter);CMA提示胎儿染色体3p26.3-p26.2存在2.92Mb缺失,7p22.3-p14.3存在34.18Mb重复。两处变异均为致病性变异。结论胎儿3号和7号染色体拷贝数变异与母亲的t(3;7)平衡易位有关,7p22.3-p14.3重复是该胎儿异常表型的遗传学病因,3p26.3-p26.2缺失可能致胎儿出生后表现出严重的神经系统表型.Objective To analyze the genetic characteristic of a fetus with developmental abnormalities derived from a balanced t(3;7)maternal translocation,and expolore the exploring the correlation between phenotype and genotype.Methods Fetal amniotic fluid cells were detected by chromosomal karyotyping and chromosome microarray analysis(CMA)technology.Results The fetal chromosome karyotype was 46,XY,rec(3)(7pter→7p14.3::3p26.3→3qter);CMA suggests a 2.92 Mb deletion at 3p26.3-p26.2 and a 34.18 Mb duplication at 7p22.3-p14.3 in the fetus,which were both predicted to be pathogenic variations.Conclusion The fetal copy number variations in chromosomes 3 and 7 are related to the maternal t(3;7)balanced translocation,7p22.3-p14.3 duplication is the genetic cause of the abnormal fetal phenotype,and 3p26.3-p26.2 deficiency may cause severe neurological phenotype.

关 键 词：平衡易位 3p26.3-p26.2缺失 7p22.3-p14.3重复 染色体微阵列分析 

分 类 号：R714.5[医药卫生—妇产科学]