We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.
Child, Preschool ; Chromosome Banding ; *Chromosome Deletion ; Chromosomes, Human, Pair 18/*genetics ; Ductus Arteriosus, Patent/genetics/*pathology ; Humans ; Karyotyping ; Male ; Pulmonary Valve Stenosis/genetics/*pathology