22q11.2 deletion syndrome

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22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a constellation of findings due to a deletion in 22q11.2.[1]

Several other terms are used to refer to this syndrome, including CATCH 22 syndrome. Catch-22 is considered inappropriate by some, as it is derived from the novel with the same name and means a no win situation.[2]

Mnemonic CATCH-22:[3]

  • Cardiac abnormality, especially tetralogy of Fallot.
  • Abnormal facies.
  • Thymic aplasia
  • Cleft palate
  • Hypoparathyroidism (hypocalcemia).
  • Chromosome 22.

See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 188400
  2. Shprintzen, RJ. (2008). "Velo-cardio-facial syndrome: 30 Years of study.". Dev Disabil Res Rev 14 (1): 3-10. doi:10.1002/ddrr.2. PMID 18636631.
  3. Yonehara, Y.; Nakatsuka, T.; Ichioka, S.; Sasaki, N.; Kobayashi, T. (Sep 2002). "CATCH 22 Syndrome.". J Craniofac Surg 13 (5): 623-6. PMID 12218787.