An adult patient with pulmonary atresia with ventricular septal defect and chromosome 17p13.3 microdeletion including <i>YWHAE</i> gene

17p13.3 microdeletions involving deletion of the gene <i>YWHAE</i> are a newly recognised cause of neurodevelopmental disorder. There are now emerging case reports of this genetic disorder associated with CHDs, and this case report outlines the first instance of this specific 17p13.3 microdeletion with pulmonary atresia with ventricular septal defect.