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

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.