Article
[Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2014
Mei Mei, Yang Lin, Zhan Guodong, Wang Huijun, Ma Duan, Zhou Wenhao, Huang Guoying
Abstract excerpt
OBJECTIVE: To screen for genomic copy number variations (CNVs) in two unrelated neonates with multiple congenital abnormalities using Affymetrix SNP chip and try to find the critical region associated with congenital heart disease. METHOD: Two neonates were tested for genomic copy number variations by using Cytogenetic SNP chip.Rare CNVs with potential clinical significance were selected of which deletion...
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