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.
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: firstname.lastname@example.org