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Chromosome 16 trisomy

MedGen UID:
276900
Concept ID:
C1519651
Cell or Molecular Dysfunction
Synonym: Trisomy 16
 
Monarch Initiative: MONDO:0022180

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 16 in somatic cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 16 trisomy

Professional guidelines

PubMed

Spencer K, Pertile MD, Bonacquisto L, Mills I, Turner S, Donalson K, Jónsson JJ
Prenat Diagn 2014 Mar;34(3):291-5. Epub 2013 Dec 19 doi: 10.1002/pd.4285. PMID: 24353252

Recent clinical studies

Etiology

Spinillo SL, Farina A, Sotiriadis A, Pozzoni M, Giglio S, Papale M, Candiani M, Cavoretto PI
Am J Obstet Gynecol 2022 Nov;227(5):714-727.e1. Epub 2022 Aug 4 doi: 10.1016/j.ajog.2022.07.034. PMID: 35934121
Yao T, Hou H, Liu G, Wu J, Qin Z, Sun Y, Jin X, Chen J, Chen Y, Xu Z
Reprod Fertil Dev 2019 May;31(6):1116-1126. doi: 10.1071/RD17319. PMID: 30922443
Mishra R, Paththinige CS, Sirisena ND, Nanayakkara S, Kariyawasam UGIU, Dissanayake VHW
BMC Pediatr 2018 Jan 8;18(1):4. doi: 10.1186/s12887-017-0980-z. PMID: 29310616Free PMC Article
Yong PJ, McFadden DE, Robinson WP
J Obstet Gynaecol Can 2012 Dec;34(12):1141-1148. doi: 10.1016/S1701-2163(16)35461-5. PMID: 23231796
Lathi RB, Gray Hazard FK, Heerema-McKenney A, Taylor J, Chueh JT
Semin Reprod Med 2011 Nov;29(6):463-9. Epub 2011 Dec 8 doi: 10.1055/s-0031-1293200. PMID: 22161459

Diagnosis

Gergely L, Korbeľ M, Adamec A, Repiská V, Babál P, Melišová K, Priščáková P
Physiol Res 2023 Oct 27;72(S3):S309-S313. doi: 10.33549/physiolres.935174. PMID: 37888974Free PMC Article
Spinillo SL, Farina A, Sotiriadis A, Pozzoni M, Giglio S, Papale M, Candiani M, Cavoretto PI
Am J Obstet Gynecol 2022 Nov;227(5):714-727.e1. Epub 2022 Aug 4 doi: 10.1016/j.ajog.2022.07.034. PMID: 35934121
Gavanier D, Berthet G, Hajri T, Allias F, Atallah A, Massoud M, Golfier F, Bolze PA, Massardier J
J Gynecol Obstet Hum Reprod 2021 Jun;50(6):101738. Epub 2020 Apr 29 doi: 10.1016/j.jogoh.2020.101738. PMID: 32360634
Sparks TN, Thao K, Norton ME
Genet Med 2017 Oct;19(10):1164-1170. Epub 2017 Apr 6 doi: 10.1038/gim.2017.23. PMID: 28383546Free PMC Article
Lathi RB, Gray Hazard FK, Heerema-McKenney A, Taylor J, Chueh JT
Semin Reprod Med 2011 Nov;29(6):463-9. Epub 2011 Dec 8 doi: 10.1055/s-0031-1293200. PMID: 22161459

Therapy

Spinillo SL, Farina A, Sotiriadis A, Pozzoni M, Giglio S, Papale M, Candiani M, Cavoretto PI
Am J Obstet Gynecol 2022 Nov;227(5):714-727.e1. Epub 2022 Aug 4 doi: 10.1016/j.ajog.2022.07.034. PMID: 35934121
De la Torre R, De Sola S, Pons M, Duchon A, de Lagran MM, Farré M, Fitó M, Benejam B, Langohr K, Rodriguez J, Pujadas M, Bizot JC, Cuenca A, Janel N, Catuara S, Covas MI, Blehaut H, Herault Y, Delabar JM, Dierssen M
Mol Nutr Food Res 2014 Feb;58(2):278-88. Epub 2013 Sep 14 doi: 10.1002/mnfr.201300325. PMID: 24039182

Prognosis

Lin Y, Hu P, Li H, Luo C, Liang D, Xu Z
J Cell Mol Med 2022 Apr;26(8):2251-2258. Epub 2022 Feb 16 doi: 10.1111/jcmm.17245. PMID: 35174956Free PMC Article
Grau Madsen S, Uldbjerg N, Sunde L, Becher N; Danish Fetal Medicine Study Group; Danish Clinical Genetics Study Group
Prenat Diagn 2018 Dec;38(13):1103-1110. doi: 10.1002/pd.5370. PMID: 30328629
Donato XC, Brechard MP, François-Renard P, Hairion D, Quarello E, Hoffet M, Katsogiannou M, Desbriere R
Prenat Diagn 2018 Nov;38(12):924-927. Epub 2018 Sep 27 doi: 10.1002/pd.5357. PMID: 30198079
Mishra R, Paththinige CS, Sirisena ND, Nanayakkara S, Kariyawasam UGIU, Dissanayake VHW
BMC Pediatr 2018 Jan 8;18(1):4. doi: 10.1186/s12887-017-0980-z. PMID: 29310616Free PMC Article
Scheuvens R, Begemann M, Soellner L, Meschede D, Raabe-Meyer G, Elbracht M, Schubert R, Eggermann T
Clin Genet 2017 Jul;92(1):45-51. Epub 2017 Mar 8 doi: 10.1111/cge.12958. PMID: 28032339

Clinical prediction guides

Spinillo SL, Farina A, Sotiriadis A, Pozzoni M, Giglio S, Papale M, Candiani M, Cavoretto PI
Am J Obstet Gynecol 2022 Nov;227(5):714-727.e1. Epub 2022 Aug 4 doi: 10.1016/j.ajog.2022.07.034. PMID: 35934121
Yao T, Hou H, Liu G, Wu J, Qin Z, Sun Y, Jin X, Chen J, Chen Y, Xu Z
Reprod Fertil Dev 2019 May;31(6):1116-1126. doi: 10.1071/RD17319. PMID: 30922443
Mishra R, Paththinige CS, Sirisena ND, Nanayakkara S, Kariyawasam UGIU, Dissanayake VHW
BMC Pediatr 2018 Jan 8;18(1):4. doi: 10.1186/s12887-017-0980-z. PMID: 29310616Free PMC Article
Sparks TN, Thao K, Norton ME
Genet Med 2017 Oct;19(10):1164-1170. Epub 2017 Apr 6 doi: 10.1038/gim.2017.23. PMID: 28383546Free PMC Article
Blair JD, Langlois S, McFadden DE, Robinson WP
Placenta 2014 Mar;35(3):216-22. Epub 2014 Jan 11 doi: 10.1016/j.placenta.2014.01.001. PMID: 24462402

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