Background
22q11 Deletions: DiGeorge syndrome (DGS); velo-cardio-facial syndrome (VCFS); Shprintzen syndrome; CATCH 22
The chromosome 22q11 deletion is found in a wide variety of apparently unrelated conditions. The deletion was first recognized in 1981 in Di George syndrome, affecting the heart, calcium and resistance to infection and occasionally the palate. Velo-cardio-facial syndrome (VCFS) with disorders in structure and function of the palate, heart defect and a facial appearance with features similar to each other, also known as Shprintzen syndrome, was considered a quite separate condition until the genetic basis was found to be the same as Di George in 1988.
The effects can be seen as a range of severity from mild to moderate in VCFS, to more severe in Di George syndrome.