Ontology highlight
ABSTRACT:
SUBMITTER: de Souza KR
PROVIDER: S-EPMC4475533 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
de Souza Karen Regina KR Mergener Rafaella R Huber Janaina J Campos Pellanda Lucia L Riegel Mariluce M
BioMed research international 20150607
Despite considerable advances in the detection of genomic abnormalities in congenital heart disease (CHD), the etiology of CHD remains largely unknown. CHD is the most common birth defect and is a major cause of infant morbidity and mortality, and conotruncal defects constitute 20% of all CHD cases. We used array comparative genomic hybridization (array-CGH) to retrospectively study 60 subjects with conotruncal defects and identify genomic imbalances. The DNA copy number variations (CNVs) detect ...[more]