22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system.
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.
Restivo
Angelo
A
Department of Paediatrics, University of Rome La Sapienza, Italy.
Sarkozy
Anna
A
Digilio
Maria Cristina
MC
Dallapiccola
Bruno
B
Marino
Bruno
B
D000818:Animals; D002319:Cardiovascular System / Q000196:embryology*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004730:Endothelium, Vascular / Q000502:physiology; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D009432:Neural Crest / Q000196:embryology / Q000502:physiology; D010614:Pharynx / Q000196:embryology; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics*
D020825:T-Box Domain Proteins; C108625:TBX1 protein, human