Current perspectives22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular systemRestivo, Angelo; Sarkozy, Anna; Digilio, Maria Cristina; Dallapiccola, Bruno; Marino, BrunoAuthor Information aDepartment of Paediatrics, University of Rome ‘La Sapienza’, Italy bCSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy cDepartment of Experimental Medicine and Pathology, University of Rome ‘La Sapienza’, Italy dDivision of Medical Genetics, Bambino Gesù Hospital, IRCCS, Rome, Italy Received 18 May, 2005 Accepted 4 July, 2005 Correspondence and requests for reprints to Professor Bruno Marino, Department of Paediatrics, University of Rome ‘La Sapienza’, V. le Regina Elena 324, 00161 Rome, Italy Tel/fax: +39 649970356; e-mail: [email protected] Journal of Cardiovascular Medicine: February 2006 - Volume 7 - Issue 2 - p 77-85 doi: 10.2459/01.JCM.0000203848.90267.3e Buy Metrics Abstract The morphology and molecular genetics of the 22q11 deletion syndrome cardiovascular anomalies are reviewed. Special emphasis is given to TBX1, recently identified and considered to be the potential key gene for this clinical syndrome. The TBX1 downstream molecular pathways modulating the normal development of the pharyngeal apparatus are also discussed, and emphasis is given to the possible, equally fundamental role of downstream molecular pathway disruption in causing the clinical 22q11 deletion phenotype features. © 2006 Italian Federation of Cardiology. All rights reserved.