河南科技大学学报（医学版）2015，Vol.33Issue(3)：164-165,168,3.
微阵列在22 q11 . 2微缺失综合征诊断和产前诊断中的应用
Applying Microarray to Detect 22 q11 . 2 Microdeletion Syndrome in Diagnosis and Prenatal Diagnosis
摘要
Abstract
Objective The results of array-based comparative genomic hybridization ( aCGH ) in our hospital were retrospectively analyzed. Methods The genomic copy number variations of peripheral blood samples and prenatal samples were detected by aCGH technique. Results 10 cases were detected 22 q11. 2 microdeletion, including 4 cases of newborns, 3 cases with clinical phenotype of 22 q11. 2 microdeletion syndrome, 6 cases of prenatal diagnosis cases, including 2 cases of clinical phenotype of 22 q11. 2 microdeletion syndrome. Conclusion aCGH is effective in reducing the loss of prenatal diagnosis of 22q11. 2 microdeletion syndrome in children with birth, and it has important significance for eugenic birth and decrease of the perinatal complication.关键词
微阵列比较基因组杂交/产前诊断/22q11.2微缺失Key words
array-based comparative genomic hybridization/prenatal diagnosis/22 q11.2 micro-deletion syndrome分类
医药卫生引用本文复制引用
黄伟伟,卢建,杨曦,陈秋平,刘舒,尹爱华..微阵列在22 q11 . 2微缺失综合征诊断和产前诊断中的应用[J].河南科技大学学报（医学版）,2015,33(3):164-165,168,3.基金项目
国家自然科学基金(31401136)广东省自然科学基金(S2012010008318) （31401136）
