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22q11.2 deletion syndrome

MedGen UID:
977689
•Concept ID:
CN294181
•
Disease or Syndrome
Synonym: Chromosome 22q11.2 deletion syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018923
Orphanet: ORPHA567

Definition

A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV22q11.2 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
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML
J Clin Immunol 2023 Feb;43(2):247-270. Epub 2023 Jan 17 doi: 10.1007/s10875-022-01418-y. PMID: 36648576Free 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

Neurological manifestation of 22q11.2 deletion syndrome.
Bayat M, Bayat A
Neurol Sci 2022 Mar;43(3):1695-1700. Epub 2022 Jan 18 doi: 10.1007/s10072-021-05825-8. PMID: 35039989
22q11.2 duplications: Expanding the clinical presentation.
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
MicroRNAs in the Onset of Schizophrenia.
Thomas KT, Zakharenko SS
Cells 2021 Oct 6;10(10) doi: 10.3390/cells10102679. PMID: 34685659Free PMC Article
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):64-72. Epub 2020 Feb 12 doi: 10.1002/ajmg.c.31774. PMID: 32049433
Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
Sullivan KE
Immunol Rev 2019 Jan;287(1):186-201. doi: 10.1111/imr.12701. PMID: 30565249

Diagnosis

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
22q11.2 duplications: Expanding the clinical presentation.
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Cirillo A, Lioncino M, Maratea A, Passariello A, Fusco A, Fratta F, Monda E, Caiazza M, Signore G, Esposito A, Baban A, Versacci P, Putotto C, Marino B, Pignata C, Cirillo E, Giardino G, Sarubbi B, Limongelli G, Russo MG
Heart Fail Clin 2022 Jan;18(1):155-164. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.009. PMID: 34776076
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS
Nat Rev Dis Primers 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. PMID: 27189754Free PMC Article
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
McDonald-McGinn DM, Sullivan KE
Medicine (Baltimore) 2011 Jan;90(1):1-18. doi: 10.1097/MD.0b013e3182060469. PMID: 21200182

Therapy

Otorhinologic Disorders in 22q11.2 Deletion Syndrome.
Lu N, Kacin AJ, Shaffer AD, Stapleton AL
Otolaryngol Head Neck Surg 2023 Oct;169(4):1012-1019. Epub 2023 Mar 23 doi: 10.1002/ohn.331. PMID: 36950877
Prevalence and incidence of psychotic disorders in 22q11.2 deletion syndrome: a meta-analysis.
Provenzani U, Damiani S, Bersano I, Singh S, Moschillo A, Accinni T, Brondino N, Oliver D, Fusar-Poli P
Int Rev Psychiatry 2022 Nov-Dec;34(7-8):676-688. Epub 2022 Sep 14 doi: 10.1080/09540261.2022.2123273. PMID: 36786112
Tonsillectomy in Children with 22q11.2 Deletion Syndrome.
Arganbright JM, Hankey PB, Tracy M, Narayanan S, Noel-MacDonnell J, Ingram D
Genes (Basel) 2022 Nov 23;13(12) doi: 10.3390/genes13122187. PMID: 36553454Free PMC Article
22q11.2 Deletion Syndrome Is Associated With Impaired Auditory Steady-State Gamma Response.
Larsen KM, Pellegrino G, Birknow MR, Kjær TN, Baaré WFC, Didriksen M, Olsen L, Werge T, Mørup M, Siebner HR
Schizophr Bull 2018 Feb 15;44(2):388-397. doi: 10.1093/schbul/sbx058. PMID: 28521049Free PMC Article
Obesity in adults with 22q11.2 deletion syndrome.
Voll SL, Boot E, Butcher NJ, Cooper S, Heung T, Chow EW, Silversides CK, Bassett AS
Genet Med 2017 Feb;19(2):204-208. Epub 2016 Aug 18 doi: 10.1038/gim.2016.98. PMID: 27537705Free PMC Article

Prognosis

Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome.
Palmer LD, McManus Z, Heung T, McAlpine G, Blagojevic C, Corral M, Bassett AS
Genes (Basel) 2022 Nov 16;13(11) doi: 10.3390/genes13112126. PMID: 36421801Free PMC Article
MicroRNAs in the Onset of Schizophrenia.
Thomas KT, Zakharenko SS
Cells 2021 Oct 6;10(10) doi: 10.3390/cells10102679. PMID: 34685659Free 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
Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia.
Van L, Boot E, Bassett AS
Curr Opin Psychiatry 2017 May;30(3):191-196. doi: 10.1097/YCO.0000000000000324. PMID: 28230630
Developmental trajectories in 22q11.2 deletion.
Swillen A, McDonald-McGinn D
Am J Med Genet C Semin Med Genet 2015 Jun;169(2):172-81. Epub 2015 May 18 doi: 10.1002/ajmg.c.31435. PMID: 25989227Free PMC Article

Clinical prediction guides

22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.
Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Lin HY, Lin SP
Int J Med Sci 2023;20(11):1377-1385. Epub 2023 Sep 4 doi: 10.7150/ijms.86773. PMID: 37790845Free PMC Article
Transcriptional linkage analysis with in vivo AAV-Perturb-seq.
Santinha AJ, Klingler E, Kuhn M, Farouni R, Lagler S, Kalamakis G, Lischetti U, Jabaudon D, Platt RJ
Nature 2023 Oct;622(7982):367-375. Epub 2023 Sep 20 doi: 10.1038/s41586-023-06570-y. PMID: 37730998Free PMC Article
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE
J Clin Immunol 2023 May;43(4):794-807. Epub 2023 Feb 3 doi: 10.1007/s10875-023-01443-5. PMID: 36735193
MicroRNAs in the Onset of Schizophrenia.
Thomas KT, Zakharenko SS
Cells 2021 Oct 6;10(10) doi: 10.3390/cells10102679. PMID: 34685659Free 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 systematic reviews

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS
Genet Med 2023 Mar;25(3):100344. Epub 2023 Feb 2 doi: 10.1016/j.gim.2022.11.012. PMID: 36729052
Prevalence and incidence of psychotic disorders in 22q11.2 deletion syndrome: a meta-analysis.
Provenzani U, Damiani S, Bersano I, Singh S, Moschillo A, Accinni T, Brondino N, Oliver D, Fusar-Poli P
Int Rev Psychiatry 2022 Nov-Dec;34(7-8):676-688. Epub 2022 Sep 14 doi: 10.1080/09540261.2022.2123273. PMID: 36786112
Airway anomalies in patients with 22q11.2 deletion syndrome: A scoping review.
Hankey PB, Ghulmiyyah J, Yeh HW, Tracy M, Arganbright J
Int J Pediatr Otorhinolaryngol 2022 Dec;163:111373. Epub 2022 Nov 2 doi: 10.1016/j.ijporl.2022.111373. PMID: 36335759
Longitudinal Psychiatric and Developmental Outcomes in 22q11.2 Deletion Syndrome: A Systematic Review.
Jhawar N, Brown MJ, Cutler-Landsman D, Kates WR, Angkustsiri K, Antshel KM
J Dev Behav Pediatr 2021 Jun-Jul 01;42(5):415-427. doi: 10.1097/DBP.0000000000000927. PMID: 34110308
Birth Prevalence of Chromosome 22q11.2 Deletion Syndrome: A Systematic Review of Population-Based Studies.
Panamonta V, Wichajarn K, Chaikitpinyo A, Panamonta M, Pradubwong S, Chowchuen B
J Med Assoc Thai 2016 Aug;99 Suppl 5:S187-93. PMID: 29906080

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