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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

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.
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
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
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
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.
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

Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
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
Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation.
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
Neurobiological perspective of 22q11.2 deletion syndrome.
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
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.
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
Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations.
Zaharia A, Schneider M, Glaser B, Franchini M, Menghetti S, Schaer M, Debbané M, Eliez S
J Neurodev Disord 2018 Aug 29;10(1):26. doi: 10.1186/s11689-018-9245-x. PMID: 30157749Free PMC Article

Diagnosis

Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
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
Neurobiological perspective of 22q11.2 deletion syndrome.
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
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.
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
Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.
Zwifelhofer NMJ, Bercovitz RS, Weik LA, Moroi A, LaRose S, Newman PJ, Newman DK
J Thromb Haemost 2019 Feb;17(2):295-305. Epub 2019 Jan 22 doi: 10.1111/jth.14357. PMID: 30549403Free PMC Article
Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.
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

Therapy

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.
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
Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment.
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
Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway.
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
Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.
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
Effects of oropharyngeal surgery on velopharyngeal competence.
Milczuk HA
Curr Opin Otolaryngol Head Neck Surg 2012 Dec;20(6):522-6. doi: 10.1097/MOO.0b013e32835873cc. PMID: 22929115

Prognosis

Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.
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
A Case for Thalamic Mechanisms of Schizophrenia: Perspective From Modeling 22q11.2 Deletion Syndrome.
Jiang Y, Patton MH, Zakharenko SS
Front Neural Circuits 2021;15:769969. Epub 2021 Dec 8 doi: 10.3389/fncir.2021.769969. PMID: 34955759Free PMC Article
Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome.
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
Immunological features of 22q11 deletion syndrome.
Gennery AR
Curr Opin Pediatr 2013 Dec;25(6):730-5. doi: 10.1097/MOP.0000000000000027. PMID: 24136300
Newborn screening programs: should 22q11 deletion syndrome be added?
Bales AM, Zaleski CA, McPherson EW
Genet Med 2010 Mar;12(3):135-44. doi: 10.1097/GIM.0b013e3181cdeb9a. PMID: 20071995

Clinical prediction guides

Synaptic Plasticity Dysfunctions in the Pathophysiology of 22q11 Deletion Syndrome: Is There a Role for Astrocytes?
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
Psychiatric phenotypes associated with hyperprolinemia: A systematic review.
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
Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation.
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
Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome.
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
Immunological features of 22q11 deletion syndrome.
Gennery AR
Curr Opin Pediatr 2013 Dec;25(6):730-5. doi: 10.1097/MOP.0000000000000027. PMID: 24136300

Recent systematic reviews

Psychiatric phenotypes associated with hyperprolinemia: A systematic review.
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
The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.
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
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.
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
A systematic review on olfaction in child and adolescent psychiatric disorders.
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

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