Previous studies of gene inactivation in mouse models [33, 34] and mutation analysis of TBX1 in phenocopies of 22q11.2DS but without a deletion in human patients [35, 36] provide strong evidence for contribution to CHD from TBX1 (T-box 1), a transcription factor gene located in the 22q11.2 deletion region. This evidence concerns the gene TBX1 and coronary artery disorder.