Difference between revisions of "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.<ref name=omim188400>{{OMIM|188400}}</ref> | '''22q11.2 deletion syndrome''', also known as '''DiGeorge syndrome''', is a constellation of findings due to a deletion in 22q11.2.<ref name=omim188400>{{OMIM|188400}}</ref> | ||
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 ''no win situation''.<ref name=pmid18636631>{{Cite journal | last1 = Shprintzen | first1 = RJ. | title = Velo-cardio-facial syndrome: 30 Years of study. | journal = Dev Disabil Res Rev | volume = 14 | issue = 1 | pages = 3-10 | month = | year = 2008 | doi = 10.1002/ddrr.2 | PMID = 18636631 }}</ref> | 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''.<ref name=pmid18636631>{{Cite journal | last1 = Shprintzen | first1 = RJ. | title = Velo-cardio-facial syndrome: 30 Years of study. | journal = Dev Disabil Res Rev | volume = 14 | issue = 1 | pages = 3-10 | month = | year = 2008 | doi = 10.1002/ddrr.2 | PMID = 18636631 }}</ref> | ||
Mnemonic ''CATCH-22'':<ref name=pmid12218787>{{Cite journal | last1 = Yonehara | first1 = Y. | last2 = Nakatsuka | first2 = T. | last3 = Ichioka | first3 = S. | last4 = Sasaki | first4 = N. | last5 = Kobayashi | first5 = T. | title = CATCH 22 Syndrome. | journal = J Craniofac Surg | volume = 13 | issue = 5 | pages = 623-6 | month = Sep | year = 2002 | doi = | PMID = 12218787 }}</ref> | Mnemonic ''CATCH-22'':<ref name=pmid12218787>{{Cite journal | last1 = Yonehara | first1 = Y. | last2 = Nakatsuka | first2 = T. | last3 = Ichioka | first3 = S. | last4 = Sasaki | first4 = N. | last5 = Kobayashi | first5 = T. | title = CATCH 22 Syndrome. | journal = J Craniofac Surg | volume = 13 | issue = 5 | pages = 623-6 | month = Sep | year = 2002 | doi = | PMID = 12218787 }}</ref> | ||
*'''C'''ardiac abnormality, especially [[tetralogy of Fallot]]. | *'''C'''ardiac abnormality, especially [[tetralogy of Fallot]]. | ||
*'''A'''bnormal facies. | *'''A'''bnormal facies. | ||
*'''T'''hymic aplasia | *[[thymus|'''T'''hymic]] aplasia | ||
*'''C'''left palate | *'''C'''left palate | ||
*'''H'''ypoparathyroidism (hypocalcemia). | *'''H'''ypoparathyroidism (hypocalcemia). | ||
Latest revision as of 14:07, 6 April 2012
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.