22q11.2 deletion syndrome

The 22q11.2 deletion syndrome, also known as the DiGeorge syndrome or velocardiofacial syndrome, is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but a recognisable pattern of physical and behavioural features.

The estimated incidence is at ~ 1 in 4000 live pregnancies 4.

CATCH 22 is the mnemonic to remember the chromosome and all the abnormalities.

Genetics

There is a near-universal association with a deletion within chromosome 22q11.2. The majority of cases have de novo mutations. 22q11 deletions are associated with some types of conotruncal cardiac defects as well as conotruncal anomaly face syndrome 5.

Associations

First described in 1968 by Angelo DiGeorge.

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Article information

rID: 6980
System: Paediatrics
Section: Syndromes
Tags: cases, refs
Synonyms or Alternate Spellings:
  • Velocardiofacial Syndrome
  • Chromosome 22q.11 deletion syndrome
  • Di George syndrome
  • Shprintzen syndrome
  • DiGeorge syndrome
  • 22q11 deletion syndrome
  • Velocardiofacial syndrome (VCFS)
  • 22q deletion syndrome
  • Cayler cardiofacial syndrome
  • Conotruncal anomaly face syndrome (CTAF)
  • Conotruncal anomaly face syndrome
  • Di George 'ssyndrome

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