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22q11 Deletion syndromes

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.

What are the symptoms? View What are the symptoms?

Medical text written August 2003 by Dr A Habel. Last updated July 2008 by Dr A Habel, Consultant Paediatrician, Great Ormond Street Hospital, London, UK.

 

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