单核苷酸多态性微阵列联合染色体G显带核型分析产前诊断1例7p14.1-p12.3缺失胎儿  

Antenatal diagnosis of a fetus with 7p14.1-p12.3 deletion with single nucleotide polymorphism array and G-banding Karyotyping

作　　者：李素丽[1] 张瑚[1] 陈武斌[1] 谢建生[1] 李海飞[2] LI Su-li;ZHANG Hu;CHEN Wu-bin;XIE Jian-sheng;LI Hai-fei(Center for Medical Genetics,Shenzhen Maternity and Child Health-care Hospital,Shenzhen,Guangdong 518017,China;不详)

机构地区：[1]深圳市妇幼保健院医学遗传中心,广东深圳518017 [2]深圳市妇幼保健院儿童保健科,广东深圳518017

出　　处：《中国卫生检验杂志》2021年第14期1734-1736,共3页Chinese Journal of Health Laboratory Technology

基　　金：深圳市科技计划项目(JCYJ20170413092818116)。

摘　　要：目的明确1例双足多趾及侧脑室增宽胎儿染色体拷贝数变异(copy number variants,CNVs)性质及来源,为产前遗传咨询提供依据。方法采用常规G显带技术分析胎儿脐血及其父母的外周血染色体核型,用单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNP-array)对胎儿及其父母进行全基因组拷贝数变异分析。结果G显带结果显示胎儿的染色体核型为46,XN,del(7)(p14p12),其父母染色体核型均未见异常。SNP-array检测结果显示胎儿染色体7p14.1-p12.3区存在6.412Mb杂合缺失,其父母基因组拷贝数未见异常。结论胎儿染色体拷贝数杂合缺失为新发致病性突变,被诊断为Greig头多并指综合征(GCPS),缺失区域包含的GLI3是该综合征的关键基因。Objective To identify the origin and pathogenicity of copy number variants(CNVs)in a fetus with hyperdactylism as well as fetal cerebral ventriculomegaly.Methods Conventional G-banding technique was used to analyze the chromosome karyotypes of fetal cord blood and the parents'peripheral blood,and SNP-array was used to analyze the whole genome copy number variation(CNV)of fetus and its parents.Results A karyotype of 46,XN,del(7)(p14.1p12.3)was detected in the fetus while no abnormal karyotype was observed in its parents.The results of SNP-array analysis showed that there was a heterozygosity deletion of 6.412Mb in chromosome 7p14.1-p12.3 region of the fetus,and the copy number of the parental genome was not abnormal.Conclusion Fetal chromosome copy number missing hybrid for new pathogenic mutation was diagnosed with Greigcephalopolysyndactyly syndrome(GCPS),and the GLI3 gene in the missing area is the key of the syndrome.

关 键 词：多趾畸形 侧脑室增宽 单核苷酸多态性微阵列 Greig头多并指综合征 GLI3基因 

分 类 号：R74[医药卫生—神经病学与精神病学]