Genetic analysis of a child with 13q deletion syndrome featuring congenital heart disease / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a child with congenital heart disease (CHD).@*METHODS@#Clinical examination of the child was carried out. Chromosomal microarray analysis (CMA) and quantitative PCR were carried out to detect copy number variations.@*RESULTS@#The major features of the child included CHD (ventricular septal defect, severe pulmonary hypertension, tricuspid regurgitation, patent ductus arteriosus, and patent foramen ovale), severe pneumonia and liver failure. A de novo 3.2 Mb deletion encompassing 25 genes in 13q34 and a paternal 2.2 Mb duplication in 19p13.3 were revealed by CMA and qPCR.@*CONCLUSION@#The 13q34 region probably contains susceptibility genes for CHD.