DiGeorge Syndrome and Velocardiofacial Syndrome (VCFS)

Abstract DiGeorge and velocardiofacial syndromes result from a chromosomal deletion involving proximal chromosome 22, and affected individuals commonly present with congenital heart defects, feeding problems, speech delay and learning problems. The creation of mouse models that mimic the human disorder has identified that the Tbx1 transcription factor gene is the major dosage‐sensitive gene in the deletion region and has allowed exploration of the underlying developmental pathways disrupted in these syndromes.