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Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.
Συγγραφείς: Bisba M; Department of Quality and Vigilance, Vigi-Care, 11525 Athens, Greece., Louizou E; Department of Molecular Genetics, Cardea Medical, 15233 Athens, Greece., Vittas S; Department of Molecular Genetics, Cardea Medical, 15233 Athens, Greece.
Πηγή: Genes [Genes (Basel)] 2026 Jul 22; Vol. 17 (7). Date of Electronic Publication: 2026 Jul 22.
Τύπος έκδοσης: Journal Article; Review
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Imprint Name(s): Original Publication: Basel : MDPI
Ιατρικοί όροι (MeSH): Chromosome Duplication*/genetics , DiGeorge Syndrome*/genetics , DiGeorge Syndrome*/diagnosis , DiGeorge Syndrome*/pathology, Chromosomes, Human, Pair 22/genetics ; Female ; Humans ; Comparative Genomic Hybridization ; Genetic Counseling ; Phenotype ; Prenatal Diagnosis ; Pregnancy ; Abnormalities, Multiple
Περίληψη: Background/objectives: 22q11.2 microduplication syndrome is a rare genetic disorder characterized by the presence of one or two additional copies of a segment within the 22q11.2 region of chromosome 22. While much of the literature has focused on the deletion variant leading to DiGeorge syndrome, the duplication counterpart has gained increasing attention due to its clinical variability and under-recognition. This review aims to deliver new possibilities to genetic counseling that can be provided in prenatal and postnatal cases as the phenotype of 22q11.2 microduplication carriers cannot be fully predicted.
Methods: In the present study, a total of 12 (5 prenatal and 7 postnatal) cases were diagnosed through array-CGH and combined with 679 (95 prenatal and 584 postnatal) cases reported in the literature. This review summarizes the published evidence available up to April 2025. Data on clinical presentations, genetic findings, diagnostic methodologies, and outcomes were extracted and analyzed.
Results: The combination of our cases and the reported cases with 22q11.2 microduplication syndrome revealed a broad phenotypic spectrum. Common clinical features include neurodevelopmental disorders, and cardiac anomalies. Importantly, the syndrome exhibits variable expressivity and reduced penetrance, with more than 70% of the findings to be inherited by one of the parents.
Conclusions: 22q11.2 microduplication syndrome presents a heterogeneous clinical picture with variable expressivity and incomplete penetrance, posing challenges in diagnosis and genetic counseling, particularly when predicting prenatal outcomes. Awareness of its diverse manifestations is crucial for clinicians to consider this syndrome in the differential diagnosis and to provide informed counseling.
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Genome Res. 2007 Apr;17(4):482-91. (PMID: 17351135)
Gene. 2015 Sep 10;569(1):46-50. (PMID: 26099517)
Eur J Med Genet. 2020 Dec;63(12):104084. (PMID: 33045407)
Genes (Basel). 2023 Mar 09;14(3):. (PMID: 36980951)
BMC Ophthalmol. 2020 Aug 17;20(1):333. (PMID: 32807111)
Genet Med. 2008 Apr;10(4):267-77. (PMID: 18414210)
Child Neurol Open. 2017 Nov 1;4:2329048X17737651. (PMID: 29147671)
J Matern Fetal Neonatal Med. 2014 Sep;27(13):1333-8. (PMID: 24147763)
Cytogenet Genome Res. 2020;160(11-12):659-663. (PMID: 33472199)
Am J Hum Genet. 2023 Feb 2;110(2):300-313. (PMID: 36706759)
Mol Genet Genomic Med. 2024 Jul;12(7):e2498. (PMID: 39031005)
Mol Syndromol. 2010;1(5):246-254. (PMID: 22140377)
Clin Rev Allergy Immunol. 2025 Mar 04;68(1):23. (PMID: 40038168)
Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):. (PMID: 31836587)
Cytogenet Genome Res. 2019;158(1):32-37. (PMID: 30799418)
Nat Rev Dis Primers. 2015 Nov 19;1:15071. (PMID: 27189754)
Case Rep Med. 2009;2009:361518. (PMID: 20069037)
Case Rep Psychiatry. 2018 Aug 9;2018:1394356. (PMID: 30174976)
Taiwan J Obstet Gynecol. 2014 Mar;53(1):74-8. (PMID: 24767651)
Prenat Diagn. 2015 Jan;35(1):35-43. (PMID: 25118001)
Biol Psychiatry. 2020 Aug 1;88(3):260-272. (PMID: 32143830)
Mol Genet Genomic Med. 2019 Feb;7(2):e00507. (PMID: 30614210)
Am J Med Genet A. 2008 Mar 15;146A(6):758-63. (PMID: 18260141)
Eur J Med Genet. 2018 May;61(5):280-283. (PMID: 29307791)
Am J Med Genet A. 2019 Nov;179(11):2178-2189. (PMID: 31479204)
Epilepsy Behav. 2012 Dec;25(4):567-72. (PMID: 23159380)
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Am J Hum Genet. 2010 May 14;86(5):749-64. (PMID: 20466091)
J Genet. 2023;102:. (PMID: 36722223)
Eur J Med Genet. 2022 Feb;65(2):104422. (PMID: 35026468)
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Mol Syndromol. 2013 Sep;4(6):292-6. (PMID: 24167465)
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Contributed Indexing: Keywords: 22q11.2 microduplication syndrome; array-CGH; genetic counseling; incomplete penetrance; variable expressivity
SCR Disease Name: Chromosome 22q11.2 Microduplication Syndrome
Entry Date(s): Date Created: 20260728 Date Completed: 20260729 Latest Revision: 20260930
Update Code: 20261001
PubMed Central ID: PMC13410031
DOI: 10.3390/genes17070844
PMID: 42510884
Βάση Δεδομένων: MEDLINE
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  Data: Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.
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  Data: <searchLink fieldCode="AU" term="%22Bisba+M%22">Bisba M</searchLink>; Department of Quality and Vigilance, Vigi-Care, 11525 Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Louizou+E%22">Louizou E</searchLink>; Department of Molecular Genetics, Cardea Medical, 15233 Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Vittas+S%22">Vittas S</searchLink>; Department of Molecular Genetics, Cardea Medical, 15233 Athens, Greece.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 Jul 22; Vol. 17 (7). <i>Date of Electronic Publication: </i>2026 Jul 22.
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– Name: Abstract
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  Data: Background/objectives: 22q11.2 microduplication syndrome is a rare genetic disorder characterized by the presence of one or two additional copies of a segment within the 22q11.2 region of chromosome 22. While much of the literature has focused on the deletion variant leading to DiGeorge syndrome, the duplication counterpart has gained increasing attention due to its clinical variability and under-recognition. This review aims to deliver new possibilities to genetic counseling that can be provided in prenatal and postnatal cases as the phenotype of 22q11.2 microduplication carriers cannot be fully predicted.<br />Methods: In the present study, a total of 12 (5 prenatal and 7 postnatal) cases were diagnosed through array-CGH and combined with 679 (95 prenatal and 584 postnatal) cases reported in the literature. This review summarizes the published evidence available up to April 2025. Data on clinical presentations, genetic findings, diagnostic methodologies, and outcomes were extracted and analyzed.<br />Results: The combination of our cases and the reported cases with 22q11.2 microduplication syndrome revealed a broad phenotypic spectrum. Common clinical features include neurodevelopmental disorders, and cardiac anomalies. Importantly, the syndrome exhibits variable expressivity and reduced penetrance, with more than 70% of the findings to be inherited by one of the parents.<br />Conclusions: 22q11.2 microduplication syndrome presents a heterogeneous clinical picture with variable expressivity and incomplete penetrance, posing challenges in diagnosis and genetic counseling, particularly when predicting prenatal outcomes. Awareness of its diverse manifestations is crucial for clinicians to consider this syndrome in the differential diagnosis and to provide informed counseling.
– Name: Ref
  Label: References
  Group: RefInfo
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(PMID: <searchLink fieldCode="PM" term="%2229147671%22">29147671)</searchLink><br />J Matern Fetal Neonatal Med. 2014 Sep;27(13):1333-8. (PMID: <searchLink fieldCode="PM" term="%2224147763%22">24147763)</searchLink><br />Cytogenet Genome Res. 2020;160(11-12):659-663. (PMID: <searchLink fieldCode="PM" term="%2233472199%22">33472199)</searchLink><br />Am J Hum Genet. 2023 Feb 2;110(2):300-313. (PMID: <searchLink fieldCode="PM" term="%2236706759%22">36706759)</searchLink><br />Mol Genet Genomic Med. 2024 Jul;12(7):e2498. (PMID: <searchLink fieldCode="PM" term="%2239031005%22">39031005)</searchLink><br />Mol Syndromol. 2010;1(5):246-254. (PMID: <searchLink fieldCode="PM" term="%2222140377%22">22140377)</searchLink><br />Clin Rev Allergy Immunol. 2025 Mar 04;68(1):23. (PMID: <searchLink fieldCode="PM" term="%2240038168%22">40038168)</searchLink><br />Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):. 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(PMID: <searchLink fieldCode="PM" term="%2220060941%22">20060941)</searchLink><br />Am J Med Genet A. 2019 Mar;179(3):404-409. (PMID: <searchLink fieldCode="PM" term="%2230628148%22">30628148)</searchLink><br />J AAPOS. 2016 Jun;20(3):278-80. (PMID: <searchLink fieldCode="PM" term="%2227108843%22">27108843)</searchLink><br />Eur J Med Genet. 2008 Nov-Dec;51(6):501-10. (PMID: <searchLink fieldCode="PM" term="%2218707033%22">18707033)</searchLink><br />Am J Med Genet A. 2022 Mar;188(3):779-787. (PMID: <searchLink fieldCode="PM" term="%2234845825%22">34845825)</searchLink><br />Am J Ophthalmol Case Rep. 2018 Nov 04;13:16-19. (PMID: <searchLink fieldCode="PM" term="%2230505980%22">30505980)</searchLink><br />Am J Med Genet A. 2018 Oct;176(10):2070-2081. (PMID: <searchLink fieldCode="PM" term="%2230380194%22">30380194)</searchLink><br />Mol Syndromol. 2013 Sep;4(6):292-6. (PMID: <searchLink fieldCode="PM" term="%2224167465%22">24167465)</searchLink><br />Ophthalmology. 2014 Jan;121(1):392-398. (PMID: <searchLink fieldCode="PM" term="%2223972321%22">23972321)</searchLink><br />Ophthalmic Genet. 2018 Aug;39(4):532-538. (PMID: <searchLink fieldCode="PM" term="%2229902089%22">29902089)</searchLink><br />BMC Pediatr. 2015 Aug 22;15:95. (PMID: <searchLink fieldCode="PM" term="%2226297018%22">26297018)</searchLink><br />Autism Res. 2023 Dec;16(12):2247-2262. (PMID: <searchLink fieldCode="PM" term="%2237997544%22">37997544)</searchLink><br />Mol Cytogenet. 2020 Jul 08;13:28. (PMID: <searchLink fieldCode="PM" term="%2232670410%22">32670410)</searchLink><br />Eur J Med Genet. 2011 Jan-Feb;54(1):9-13. (PMID: <searchLink fieldCode="PM" term="%2220849991%22">20849991)</searchLink><br />Gene. 2014 Mar 1;537(1):164-8. (PMID: <searchLink fieldCode="PM" term="%2224361202%22">24361202)</searchLink><br />Am J Med Genet A. 2022 Jan;188(1):46-57. (PMID: <searchLink fieldCode="PM" term="%2234491614%22">34491614)</searchLink><br />Lancet Psychiatry. 2018 Jul;5(7):573-580. (PMID: <searchLink fieldCode="PM" term="%2229886042%22">29886042)</searchLink><br />Gene. 2014 Feb 15;536(1):213-6. (PMID: <searchLink fieldCode="PM" term="%2224315824%22">24315824)</searchLink><br />Eur J Med Genet. 2012 Nov;55(11):650-5. (PMID: <searchLink fieldCode="PM" term="%2222796526%22">22796526)</searchLink>
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  Data: <i>Keywords: </i>22q11.2 microduplication syndrome; array-CGH; genetic counseling; incomplete penetrance; variable expressivity
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  Data: Chromosome 22q11.2 Microduplication Syndrome
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  Data: <i>Date Created: </i>20260728 <i>Date Completed: </i>20260729 <i>Latest Revision: </i>20260930
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  Data: 20261001
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  Data: PMC13410031
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  Data: 10.3390/genes17070844
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  Data: 42510884
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RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.3390/genes17070844
    Languages:
      – Code: eng
        Text: English
    Subjects:
      – SubjectFull: Chromosomes, Human, Pair 22 genetics
        Type: general
      – SubjectFull: Female
        Type: general
      – SubjectFull: Humans
        Type: general
      – SubjectFull: Comparative Genomic Hybridization
        Type: general
      – SubjectFull: Genetic Counseling
        Type: general
      – SubjectFull: Phenotype
        Type: general
      – SubjectFull: Prenatal Diagnosis
        Type: general
      – SubjectFull: Pregnancy
        Type: general
      – SubjectFull: Abnormalities, Multiple
        Type: general
      – SubjectFull: Chromosome Duplication genetics
        Type: general
      – SubjectFull: DiGeorge Syndrome genetics
        Type: general
      – SubjectFull: DiGeorge Syndrome diagnosis
        Type: general
      – SubjectFull: DiGeorge Syndrome pathology
        Type: general
    Titles:
      – TitleFull: Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Bisba M
      – PersonEntity:
          Name:
            NameFull: Louizou E
      – PersonEntity:
          Name:
            NameFull: Vittas S
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 22
              M: 07
              Text: 2026 Jul 22
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2073-4425
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: Genes
              Type: main
ResultId 1