TBX1 and 22q11.2 deletion syndrome: CNVs are implicated in various syndromes, including 22q11.2 deletion syndrome (also known as DiGeorge syndrome, velocardiofacial syndrome, and CATCH-22) [111], as well as Prader–Willi, Angelman, and 1q21.1 microduplication syndromes, etc. [112,113].