Genetic analysis of a child with 13q deletion syndrome featuring congenital heart disease

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. Key words: 13q deletion syndrome; Chromosomal microarray analysis; Congenital heart disease