The patient with a 3 Mb deletion combined with a TOP3B gene deletion (ID 18) exhibited a complex and severe phenotype, including CHD (pulmonary atresia, ventricular septal defect, and overriding aorta), recurrent infections, cleft palate, psychomotor delay, hypocalcemia, swallowing problems, and facial dysmorphism. This evidence concerns the gene TOP3B and Pulmonary artery atresia.