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Yang, C. 22q11.2 Deletion Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4114 (accessed on 26 September 2026).
Yang C. 22q11.2 Deletion Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4114. Accessed September 26, 2026.
Yang, Catherine. "22q11.2 Deletion Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4114 (accessed September 26, 2026).
Yang, C. (2020, December 23). 22q11.2 Deletion Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4114
Yang, Catherine. "22q11.2 Deletion Syndrome." Encyclopedia. Web. 23 December, 2020.
22q11.2 Deletion Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome

22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.

 

genetic conditions

References

  1. Antshel KM, Kates WR, Roizen N, Fremont W, Shprintzen RJ. 22q11.2 deletionsyndrome: genetics, neuroanatomy and cognitive/behavioral features keywords.Child Neuropsychol. 2005 Feb;11(1):5-19. Review.
  2. Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, HabelA, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J;International 22q11.2 Deletion Syndrome Consortium. Practical guidelines formanaging patients with 22q11.2 deletion syndrome. J Pediatr. 2011Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039.
  3. Fine SE, Weissman A, Gerdes M, Pinto-Martin J, Zackai EH, McDonald-McGinn DM, Emanuel BS. Autism spectrum disorders and symptoms in children with molecularlyconfirmed 22q11.2 deletion syndrome. J Autism Dev Disord. 2005 Aug;35(4):461-70.
  4. McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V,Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, LaRossa D,Bartlett SP, Whitaker LA, Zackai EH. Craniosynostosis: another feature of the22q11.2 deletion syndrome. Am J Med Genet A. 2005 Aug 1;136A(4):358-62.
  5. McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome.1999 Sep 23 [updated 2020 Feb 27]. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1523/
  6. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome(DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011Jan;90(1):1-18. doi: 10.1097/MD.0b013e3182060469. Review.
  7. Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'Donovan MC, Owen MJ,Scambler PJ, Lindsay E. Tbx1 haploinsufficiency is linked to behavioral disordersin mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A. 2006 May 16;103(20):7729-34.
  8. Robin NH, Shprintzen RJ. Defining the clinical spectrum of deletion 22q11.2. JPediatr. 2005 Jul;147(1):90-6.
  9. Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil ResRev. 2008;14(1):3-10. doi: 10.1002/ddrr.2. Review.
  10. Solot CB, Sell D, Mayne A, Baylis AL, Persson C, Jackson O, McDonald-McGinnDM. Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices forDiagnosis and Management. Am J Speech Lang Pathol. 2019 Aug 9;28(3):984-999. doi:10.1044/2019_AJSLP-16-0147.
  11. Sullivan KE. The clinical, immunological, and molecular spectrum of chromosome22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol. 2004 Dec;4(6):505-12. Review.
  12. Vorstman JAS, Morcus MEJ, Duijff SN, Klaassen PWJ, Heineman-de Boer JA, BeemerFA, Swaab H, Kahn RS, van Engeland H. The 22q11.2 deletion in children: high rateof autistic disorders and early onset of psychotic symptoms. J Am Acad ChildAdolesc Psychiatry. 2006 Sep;45(9):1104-1113. doi:10.1097/01.chi.0000228131.56956.c1.
  13. Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N,Matsuoka R. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003 Oct25;362(9393):1366-73.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Update Date: 23 Dec 2020
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