产前诊断Wolf-Hirschhorn综合征胎儿一例  

Prenatal diagnosis of Wolf-Hirschhorn syndrome: a case report

作　　者：张大焕 罗建亭 Zhang Dahuan;Luo Jianting(Department of Obstetrics and Gynecology, Zhengzhou Big Bridge Hospital, Zhengzhou 450000, China)

机构地区：[1]郑州大桥医院妇产科,450000

出　　处：《中华围产医学杂志》2019年第2期134-136,共3页Chinese Journal of Perinatal Medicine

摘　　要：本文对1例孕17周^+3至孕34周^+5超声提示为生长发育落后。应用单核苷酸多态性微阵列(single nucleotide polymorphism array, SNP array)技术对胎儿及其父母进行全基因组染色体拷贝数变异筛查,检测结果提示胎儿携带4p16.3杂合缺失,大小为2.42Mb,父母未见异常,提示为新发突变。明确诊断Wolf-Hirschhorn综合征。引产后胎儿外观无明显的"希腊武士头盔样"面容或其他畸形。This study reported a case of fetal developmental retardation indicated by ultrasound from 17^+2 to 34^5、gestations. Single nucleotide polymorphism (SNP) array was performed to detect the copy number variation in the whole genome for the fetus and parents. A 2.42 Mb deletion at 4pl6.3 was found in the fetus, but in neither parents, which suggesting a de novo mutation. Thus, the fetus was finally diagnosed with Wolf- Hirschhorn syndrome. No obvious 'Greek warrior helmet' appearance or other facial deformity was observed in the delivered fetus.

关 键 词：Wolf-Hirschhorn综合征 超声检查 产前 胎儿上氏迟缓 杂合子丢失 DNA拷贝数变异 

分 类 号：R714.5[医药卫生—妇产科学]