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
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 188400
- ↑ 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.
- ↑ Yonehara, Y.; Nakatsuka, T.; Ichioka, S.; Sasaki, N.; Kobayashi, T. (Sep 2002). "CATCH 22 Syndrome.". J Craniofac Surg 13 (5): 623-6. PMID 12218787.