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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
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
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

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
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

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
Sphincter Pharyngoplasty for Velopharyngeal Dysfunction: Impact of 22q11.2 Deletion Syndrome.
Pattisapu P, Kinter S, Bly RA, Dahl JP, Perkins JA, Wang X, Sie KCY
Laryngoscope 2023 Oct;133(10):2813-2820. Epub 2023 Jan 25 doi: 10.1002/lary.30579. PMID: 36695155
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
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

MicroRNAs in the Onset of Schizophrenia.
Thomas KT, Zakharenko SS
Cells 2021 Oct 6;10(10) doi: 10.3390/cells10102679. PMID: 34685659Free PMC Article
Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels.
Karbarz M
Genes (Basel) 2020 Aug 22;11(9) doi: 10.3390/genes11090977. PMID: 32842603Free 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

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.
Cillo F, Coppola E, Habetswallner F, Cecere F, Pignata L, Toriello E, De Rosa A, Grilli L, Ammendola A, Salerno P, Romano R, Cirillo E, Merla G, Riccio A, Pignata C, Giardino G
Genes (Basel) 2024 Feb 29;15(3) doi: 10.3390/genes15030321. PMID: 38540380Free PMC Article
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
MicroRNAs in the Onset of Schizophrenia.
Thomas KT, Zakharenko SS
Cells 2021 Oct 6;10(10) doi: 10.3390/cells10102679. PMID: 34685659Free PMC Article
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
Borlot F, Regan BM, Bassett AS, Stavropoulos DJ, Andrade DM
JAMA Neurol 2017 Nov 1;74(11):1301-1311. doi: 10.1001/jamaneurol.2017.1775. PMID: 28846756Free 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
Brain microstructural abnormalities in 22q11.2 deletion syndrome: A systematic review of diffusion tensor imaging studies.
Momtazmanesh S, Aarabi MH, Sanjari Moghaddam H, Delavari F, Shafie M, Abbasi-Feijani F, Cattarinussi G, Sambataro F
Eur Neuropsychopharmacol 2021 Nov;52:96-135. Epub 2021 Aug 4 doi: 10.1016/j.euroneuro.2021.07.004. PMID: 34358796
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.
Rozas MF, Benavides F, León L, Repetto GM
Orphanet J Rare Dis 2019 Aug 9;14(1):195. doi: 10.1186/s13023-019-1170-x. PMID: 31399107Free PMC Article

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      Related information in GTR
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      Clinical tests in GTR
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