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.
作者
张大焕
罗建亭
Zhang Dahuan;Luo Jianting(Department of Obstetrics and Gynecology, Zhengzhou Big Bridge Hospital, Zhengzhou 450000, China)
出处
《中华围产医学杂志》
CAS
CSCD
北大核心
2019年第2期134-136,共3页
Chinese Journal of Perinatal Medicine
