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. Here, TOP3B is linked to ventricular septal defect.