At present, the 22q11.2 deletion syndrome (22q11.2DS) encompasses several entities described before the molecular era, such as DiGeorge syndrome (DGS; OMIM #188400), velocardiofacial syndrome (VCFS; OMIM #192430), CATCH‐22, Takao syndrome, and others. Here, TBX1 is linked to 22q11.2 deletion syndrome.