The DiGeorge anomaly, originally considered a clinical paradigm for isolated thymus deficiency, has now been redefined as a member of a group of disorders that share in common a chromosome deletion resulting in monosomy 22q11 (CATCH-22 or DGA/VCFS).
Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11.
The DiGeorge anomaly (DGA), originally considered a clinical paradigm for isolated thymus deficiency, has now been redefined as a member of a group of disorders that share in common a chromosome deletion, which results in monosomy 22q11 (CATCH-22 or DiGeorge/velocardiofacial [VCFS] syndrome).