17p13.3p13.2微缺失胎儿一例并文献复习  

A Case of 17p13.3p13.2 Microdeletion Fetus and Literature Review

作　　者：李燕青 傅婉玉 吴素霞 江矞颖 王元白 庄建龙 LI Yan-qing;FU Wan-yu;WU Su-xia;JIANG Yu-ying;WANG Yuan-bai;ZHUANG Jian-long(Prenatal Diagnosis Center,Quanzhou Women′s and Children′s Hospital,Quanzhou 362000,Fujian Province,China;Department of Radiology,Quanzhou Women′s and Children′s Hospital,Quanzhou 362000,Fujian Province,China)

机构地区：[1]福建省泉州市妇幼保健院·儿童医院产前诊断中心,362000 [2]福建省泉州市妇幼保健院·儿童医院影像科,362000

出　　处：《国际生殖健康／计划生育杂志》2022年第5期389-392,共4页Journal of International Reproductive Health/Family Planning

基　　金：福建省卫健委青年科研课题(2020QNB045)。

摘　　要：报告1例采用染色体核型分析及单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)检测对产前影像学检查提示胎儿无脑回畸形、双侧脑室增宽、室间隔缺损及生长受限的患儿进行遗传病因分析情况。SNP-array检测结果显示胎儿在17号染色体17p13.3p13.2区段存在4.3 Mb片段缺失,包含Miller-Dieker综合征疾病区域,经对父母验证后提示该片段缺失为新发变异,说明联合影像学及SNParray检测进行胎儿出生缺陷筛查与诊断具有重要意义。A case of 17 p13.3 p13.2 microdeletion fetus was reported, combined with literature review. This is a fetus with the anencephaly and bilateral ventricle widening, ventricular septal defect and fetal growth restriction detected by imaging examination. Traditional chromosomal karyotype and single nucleotide polymorphism array(SNP-array) analysis were employed for the genetic etiology analysis. The SNP-array detection demonstrated a 4.3 Mb deletion in 17 p13.3 p13.2 region of chromosome 17 in the fetus, which covering the MillerDieker syndrome disease region. Parental SNP-array verificated that this microdeletion was a de novo variant. It is of great significance combining use of imaging and SNP-array technology to screen and diagnose fetal birth defects.

关 键 词：基因缺失 多态性 限制性片段长度 产前诊断 Miller-Dieker综合征 17p13.3微缺失 单核苷酸多态性微阵列 

分 类 号：R714.5[医药卫生—妇产科学]