1例13q33.3-q34微缺失胎儿的产前分子遗传学诊断  

Prenatal genetic diagnosis of a fetus with 13q33.3-q34 microdeletion

作　　者：张艳[1] 曾丽娜[1] 林荔[1] 董娴[1] Zhang Yan;Zeng Lina;Lin Li;Dong Xian(Prenatal Diagnosis Center,the Affiliated Hospital of Putian College,Putian 351100,China)

机构地区：[1]莆田学院附属医院产前诊断中心,351100

出　　处：《国际遗传学杂志》2021年第2期73-78,共6页International Journal of Genetics

基　　金：莆田学院2019年校内科研项目(2019099)。

摘　　要：目的联合应用多种技术产前检测1例胎儿13q33.3-q34微缺失。方法采集中孕期胎儿羊水及其父母外周血样本,行常规染色体核型分析,并应用单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNP-array)技术对胎儿及其父母进行全基因组拷贝数变异分析,最后采用荧光原位杂交技术(fluorescence in situ hybridization,FISH)进行确诊。结果胎儿羊水细胞染色体核型为46,XN,16qh+,SNP结果为13q33.3-q34区段缺失2.1 Mb;胎儿父亲外周血染色体核型为46,XY,16qh+,SNP结果为13q13.3-q14.2区段存在10.5 Mb杂合性缺失片段;胎儿母亲外周血染色体及SNP结果均未见异常。FISH检测结果显示胎儿父母未发现有13q33.3位点片段的缺失、重复或易位等异常。出生后小儿无异常临床表型。结论通过结合染色体G显带核型分析、SNP-array以及FISH,产前确诊1例13q33.3-q34微缺失胎儿。其微缺失基因型与临床表型相关性还需进一步研究。Objective To explore the application of combined techniques for the prenatal diagnosis of a case with 13q33.3-q34 microdeletion.Methods The fetus and its parents were subjected to chromosome karyotyping and SNP array analysis,and the diagnosis was confirmed by fluorescence in situ hybridization.Results The chromosome karyotypes of fetal amniotic fluid cells were 46,XN,16qh+.SNP-array analysis showed that the fetus had a 13q33-q34 microdeletion with a size of 2.1 Mb.The father of fetus had a 46,XY,16qh+karyotype,and SNP-array showed a 10.5 Mb loss of heterozygosity in 13q13.3-q14.2.The mother was normal for both tests.FISH showed that no abnormalities of the fetal parents at the 13q33.3 locus.Conclusion The combined techniques of chromosome G-banding karyotype analysis,SNP-array and FISH have enabled effective prenatal diagnosis of a case with 13q33.3-q34 microdeletion.The correlation between genotypes and clinical phenotypes should be further studied.

关 键 词：微缺失 产前诊断 单核苷酸多态性微阵列芯片 荧光原位杂交 

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