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Studies in mouse have shown that <jats:italic>Tbx1<\/jats:italic>, a T\u2010 box containing transcription factor present on the deleted region, is likely responsible for the etiology of the syndrome. Furthermore, mutations in <jats:italic>TBX1<\/jats:italic> have been found in rare non\u2010deleted patients. Despite having the same sized deletion, most VCFS\/DGS patients exhibit significant clinical variability. Stochastic, environmental and genetic factors likely modify the phenotype of patients with the disorder. Here, we review mouse genetics studies, which may help identify possible genetic modifiers for the physical malformations in VCFS\/DGS. \u00a9 2008 Wiley\u2010Liss, Inc. 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