U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

22q11 Deletion Syndrome

MedGen UID:
422333
Concept ID:
C2936346
Disease or Syndrome
Synonyms: 22q11 Deletion Syndromes; Deletion Syndrome, 22q11; Deletion Syndromes, 22q11; Syndrome, 22q11 Deletion; Syndromes, 22q11 Deletion

Definition

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV22q11 Deletion Syndrome

Professional guidelines

PubMed

Biggs SE, Gilchrist B, May KR
Curr Allergy Asthma Rep 2023 Apr;23(4):213-222. Epub 2023 Mar 10 doi: 10.1007/s11882-023-01071-4. PMID: 36897497Free PMC Article
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM
Genes (Basel) 2023 Jan 6;14(1) doi: 10.3390/genes14010160. PMID: 36672900Free PMC Article
Swillen A, Moss E, Duijff S
Am J Med Genet A 2018 Oct;176(10):2160-2166. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38709. PMID: 29696780Free PMC Article

Recent clinical studies

Etiology

Framme JL, Lundqvist C, Lundell AC, van Schouwenburg PA, Lemarquis AL, Thörn K, Lindgren S, Gudmundsdottir J, Lundberg V, Degerman S, Zetterström RH, Borte S, Hammarström L, Telemo E, Hultdin M, van der Burg M, Fasth A, Oskarsdóttir S, Ekwall O
J Clin Immunol 2022 Apr;42(3):618-633. Epub 2022 Jan 26 doi: 10.1007/s10875-021-01201-5. PMID: 35080750Free PMC Article
Patel PO, Baylis AL, Hickey SE, Stanek J, Kirschner RE, Rand ML, Kumar R
J Pediatr 2021 Aug;235:220-225. Epub 2021 Apr 7 doi: 10.1016/j.jpeds.2021.03.071. PMID: 33836185
Arganbright JM, Tracy M, Hughes SS, Ingram DG
Mol Genet Genomic Med 2020 Jun;8(6):e1153. Epub 2020 Mar 28 doi: 10.1002/mgg3.1153. PMID: 32222065Free PMC Article
Zinkstok JR, Boot E, Bassett AS, Hiroi N, Butcher NJ, Vingerhoets C, Vorstman JAS, van Amelsvoort TAMJ
Lancet Psychiatry 2019 Nov;6(11):951-960. Epub 2019 Aug 5 doi: 10.1016/S2215-0366(19)30076-8. PMID: 31395526Free PMC Article
Solot CB, Sell D, Mayne A, Baylis AL, Persson C, Jackson O, McDonald-McGinn DM
Am J Speech Lang Pathol 2019 Aug 9;28(3):984-999. Epub 2019 Jul 22 doi: 10.1044/2019_AJSLP-16-0147. PMID: 31330115Free PMC Article

Diagnosis

Dingemans AJM, Stremmelaar DE, van der Donk R, Vissers LELM, Koolen DA, Rump P, Hehir-Kwa JY, de Vries BBA
Eur J Hum Genet 2021 Sep;29(9):1418-1423. Epub 2021 Feb 18 doi: 10.1038/s41431-021-00824-x. PMID: 33603161Free PMC Article
Zinkstok JR, Boot E, Bassett AS, Hiroi N, Butcher NJ, Vingerhoets C, Vorstman JAS, van Amelsvoort TAMJ
Lancet Psychiatry 2019 Nov;6(11):951-960. Epub 2019 Aug 5 doi: 10.1016/S2215-0366(19)30076-8. PMID: 31395526Free PMC Article
Solot CB, Sell D, Mayne A, Baylis AL, Persson C, Jackson O, McDonald-McGinn DM
Am J Speech Lang Pathol 2019 Aug 9;28(3):984-999. Epub 2019 Jul 22 doi: 10.1044/2019_AJSLP-16-0147. PMID: 31330115Free PMC Article
Levy-Shraga Y, Gothelf D, Goichberg Z, Katz U, Somech R, Pinhas-Hamiel O, Modan-Moses D
Am J Med Genet A 2017 May;173(5):1301-1308. Epub 2017 Feb 16 doi: 10.1002/ajmg.a.38175. PMID: 28421700
Goldmuntz E
Clin Perinatol 2005 Dec;32(4):963-78, ix-x. doi: 10.1016/j.clp.2005.09.006. PMID: 16325672

Therapy

Hui L, Poulton A, Kluckow E, Lindquist A, Hutchinson B, Pertile MD, Bonacquisto L, Gugasyan L, Kulkarni A, Harraway J, Howden A, McCoy R, Costa FDS, Menezes M, Palma-Dias R, Nisbet D, Martin N, Bethune M, Poulakis Z, Halliday J
Hum Reprod 2020 Mar 27;35(3):694-704. doi: 10.1093/humrep/dez286. PMID: 32207823
Dufournet B, Nguyen K, Charles P, Grabli D, Jacquette A, Borg M, Danaila T, Mutez E, Drapier S, Colin O, Eusebio A, Philip N, Azulay JP
Rev Neurol (Paris) 2017 Jun;173(6):406-410. Epub 2017 Apr 29 doi: 10.1016/j.neurol.2017.03.021. PMID: 28461026
Astor MC, Løvås K, Debowska A, Eriksen EF, Evang JA, Fossum C, Fougner KJ, Holte SE, Lima K, Moe RB, Myhre AG, Kemp EH, Nedrebø BG, Svartberg J, Husebye ES
J Clin Endocrinol Metab 2016 Aug;101(8):3045-53. Epub 2016 May 17 doi: 10.1210/jc.2016-1477. PMID: 27186861Free PMC Article
Boot E, Butcher NJ, van Amelsvoort TA, Lang AE, Marras C, Pondal M, Andrade DM, Fung WL, Bassett AS
Am J Med Genet A 2015 Mar;167A(3):639-45. Epub 2015 Feb 13 doi: 10.1002/ajmg.a.36928. PMID: 25684639Free PMC Article
Milczuk HA
Curr Opin Otolaryngol Head Neck Surg 2012 Dec;20(6):522-6. doi: 10.1097/MOO.0b013e32835873cc. PMID: 22929115

Prognosis

Framme JL, Lundqvist C, Lundell AC, van Schouwenburg PA, Lemarquis AL, Thörn K, Lindgren S, Gudmundsdottir J, Lundberg V, Degerman S, Zetterström RH, Borte S, Hammarström L, Telemo E, Hultdin M, van der Burg M, Fasth A, Oskarsdóttir S, Ekwall O
J Clin Immunol 2022 Apr;42(3):618-633. Epub 2022 Jan 26 doi: 10.1007/s10875-021-01201-5. PMID: 35080750Free PMC Article
Pinnaro CT, Henry T, Major HJ, Parida M, DesJardin LE, Manak JR, Darbro BW
Mol Genet Genomic Med 2020 Jan;8(1):e1057. Epub 2019 Dec 12 doi: 10.1002/mgg3.1057. PMID: 31830774Free PMC Article
Tang SX, Moberg PJ, Yi JJ, Wiemken AS, Dress EM, Moore TM, Calkins ME, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE, Turetsky BI
Schizophr Res 2018 Dec;202:113-119. Epub 2018 Jul 11 doi: 10.1016/j.schres.2018.07.012. PMID: 30007867Free PMC Article
Taylor LE, Kates WR, Fremont W, Antshel KM
J Pediatr Psychol 2018 Jul 1;43(6):636-644. doi: 10.1093/jpepsy/jsy002. PMID: 29378061Free PMC Article
Gennery AR
Curr Opin Pediatr 2013 Dec;25(6):730-5. doi: 10.1097/MOP.0000000000000027. PMID: 24136300

Clinical prediction guides

de Oliveira Figueiredo EC, Bondiolotti BM, Laugeray A, Bezzi P
Int J Mol Sci 2022 Apr 16;23(8) doi: 10.3390/ijms23084412. PMID: 35457231Free PMC Article
Patel PO, Baylis AL, Hickey SE, Stanek J, Kirschner RE, Rand ML, Kumar R
J Pediatr 2021 Aug;235:220-225. Epub 2021 Apr 7 doi: 10.1016/j.jpeds.2021.03.071. PMID: 33836185
Arganbright JM, Tracy M, Hughes SS, Ingram DG
Mol Genet Genomic Med 2020 Jun;8(6):e1153. Epub 2020 Mar 28 doi: 10.1002/mgg3.1153. PMID: 32222065Free PMC Article
Tang SX, Moberg PJ, Yi JJ, Wiemken AS, Dress EM, Moore TM, Calkins ME, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE, Turetsky BI
Schizophr Res 2018 Dec;202:113-119. Epub 2018 Jul 11 doi: 10.1016/j.schres.2018.07.012. PMID: 30007867Free PMC Article
Gennery AR
Curr Opin Pediatr 2013 Dec;25(6):730-5. doi: 10.1097/MOP.0000000000000027. PMID: 24136300

Recent systematic reviews

Duckett KA, Poupore NS, Carroll WW, Pecha PP
Laryngoscope 2024 Jun;134(6):2551-2561. Epub 2023 Dec 5 doi: 10.1002/lary.31181. PMID: 38050953Free PMC Article
Namavar Y, Duineveld DJ, Both GIA, Fiksinski AM, Vorstman JAS, Verhoeven-Duif NM, Zinkstok JR
Am J Med Genet B Neuropsychiatr Genet 2021 Jul;186(5):289-317. Epub 2021 Jul 24 doi: 10.1002/ajmg.b.32869. PMID: 34302426
Vo OK, McNeill A, Vogt KS
Am J Med Genet A 2018 Oct;176(10):2215-2225. Epub 2018 Mar 25 doi: 10.1002/ajmg.a.38673. PMID: 29575505Free PMC Article
Homans JF, Tromp IN, Colo D, Schlösser TPC, Kruyt MC, Deeney VFX, Crowley TB, McDonald-McGinn DM, Castelein RM
Am J Med Genet A 2018 Oct;176(10):2104-2120. Epub 2017 Nov 21 doi: 10.1002/ajmg.a.38545. PMID: 29159873
Schecklmann M, Schwenck C, Taurines R, Freitag C, Warnke A, Gerlach M, Romanos M
J Neural Transm (Vienna) 2013 Jan;120(1):121-30. Epub 2012 Jul 19 doi: 10.1007/s00702-012-0855-2. PMID: 22806003

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...