Ontology highlight
ABSTRACT:
SUBMITTER: Greenway SC
PROVIDER: S-EPMC2747103 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
Nature genetics 20090713 8
Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 i ...[more]