Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).


Digilio MC,1 Marino B,2 Capolino R,1 Dallapiccola B.3 Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images Paediatr Cardiol 2005;23:23-34
1 Medical Genetics, Bambino Gesù Hospital, Rome, Italy
2 Pediatric Cardiology, Institute of Pediatrics, University “La Sapienza”, Rome, Italy
3 Experimental Medicine and Pathology, University “La Sapienza”, and CSS-Mendel Institute, Rome, Italy

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.

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