title: Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).
abstract: Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present in 75% of patients with Del22. The most frequently seen cardiac malformations are "conotruncal" defects, including tetralogy of Fallot (TF), pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA), interrupted aortic arch (IAA), and ventricular septal defect (VSD). The study of the specific "cardiac phenotype" in patients with Del22 shows that a particular cardiac anatomy can be identied in these subjects. In addition to CHD, various organ systems can be involved, so that a multidisciplinary approach is needed in the evaluation of patients with Del22.
authors.affiliation: Medical Genetics, Bambino Gesù Hospital, Rome, Italy.
authors.forename: Mc
authors.initials: M
authors.lastname: Digilio
authors.forename: B
authors.initials: B
authors.lastname: Marino
authors.forename: R
authors.initials: R
authors.lastname: Capolino
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola