TOP3B and ventricular septal defect 1: 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.