浙江医学2017，Vol.39Issue(11)：894-896,914,4.DOI:10.12056/j.issn.1006-2785.2017.39.11.2017-75
单核苷酸多态性微阵列技术在颅脑异常胎儿产前诊断中的应用
Application of single nucleotide polymorphism array in prenatal diagnosis of craniocerebral abnormality
李茂宇 1张甦 1沈学萍 1薛建英1
作者信息
- 1. 313000 湖州市妇幼保健院产前诊断中心
- 折叠
摘要
Abstract
Objective To apply single nucleotide polymorphism array (SNP-array) in prenatal genetic screening for craniocerebral abnormality.Methods Karyotyping was performed by conventional G banding analysis in 6 fetuses,and genome-wide copy number variations (CNVs) were detected by SNP-array in these fetuses.Results The abnormal karyotypes were detected by G banding analysis in 3 fetuses.And abnormal gene fragments were identified by SNP-array in 4 fetuses,including the microdeletion in Xp22.33p22.2,7q35q36.3 and increased fragments in 18p11.32q23,Yq11.221q11.23,9p24.3p21.1.Conclusion The craniocerebral abnormality of fetuses is associated with CNVs,which can be detected by SNP-array,indicating that SNP-array may be used for prenatal genetic diagnosis.关键词
单核苷酸多态性微阵列/颅脑异常/拷贝数变异Key words
SNP-array/Craniocerebral abnormality/Copy number variations引用本文复制引用
李茂宇,张甦,沈学萍,薛建英..单核苷酸多态性微阵列技术在颅脑异常胎儿产前诊断中的应用[J].浙江医学,2017,39(11):894-896,914,4.
