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16p13.11 microduplication syndrome

MedGen UID:
930264
Concept ID:
C4304595
Disease or Syndrome
Synonyms: 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus); Dup(16)(p13.11); dup(16)(p13.11); Trisomy 16p13.11; trisomy 16p13.11
SNOMED CT: 16p13.11 microduplication syndrome (719578005); Trisomy 16p13.11 (719578005)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016837
Orphanet: ORPHA261243

Definition

A recently described syndrome associated with variable clinical features including behavioural abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is non-allelic homologous recombination. The microduplications appear de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in phenotypically normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV16p13.11 microduplication syndrome

Professional guidelines

PubMed

Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Vergult S, Hoogeboom AJ, Bijlsma EK, Sante T, Klopocki E, De Wilde B, Jongmans M, Thiel C, Verheij JB, Perez-Aytes A, Van Esch H, Kuechler A, Barge-Schaapveld DQ, Sznajer Y, Mortier G, Menten B
Genet Med 2013 Mar;15(3):195-202. Epub 2012 Sep 20 doi: 10.1038/gim.2012.120. PMID: 22995989

Recent clinical studies

Etiology

Billar R, Heyman S, Kant S, Wijnen R, Sleutels F, Demirdas S, Schnater JM
Eur J Pediatr Surg 2024 Aug;34(4):325-332. Epub 2023 Apr 26 doi: 10.1055/a-2081-1288. PMID: 37100424Free PMC Article
Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, Haendel MA, Holm IA, Gonzalez-Heydrich J, Brownstein CA
J Med Internet Res 2021 Mar 16;23(3):e21023. doi: 10.2196/21023. PMID: 33724192Free PMC Article
Fujitani M, Zhang S, Fujiki R, Fujihara Y, Yamashita T
Mol Psychiatry 2017 Mar;22(3):364-374. Epub 2016 Jul 5 doi: 10.1038/mp.2016.106. PMID: 27378146Free PMC Article

Diagnosis

Billar R, Heyman S, Kant S, Wijnen R, Sleutels F, Demirdas S, Schnater JM
Eur J Pediatr Surg 2024 Aug;34(4):325-332. Epub 2023 Apr 26 doi: 10.1055/a-2081-1288. PMID: 37100424Free PMC Article

Therapy

Billar R, Heyman S, Kant S, Wijnen R, Sleutels F, Demirdas S, Schnater JM
Eur J Pediatr Surg 2024 Aug;34(4):325-332. Epub 2023 Apr 26 doi: 10.1055/a-2081-1288. PMID: 37100424Free PMC Article

Clinical prediction guides

Arslan AB, Zamani AG, Yıldırım MS
Int J Dev Neurosci 2022 Jun;82(4):289-294. Epub 2022 May 24 doi: 10.1002/jdn.10188. PMID: 35470466

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