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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

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
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
Yong PJ, Barrett IJ, Kalousek DK, Robinson WP
J Med Genet 2003 Mar;40(3):175-82. doi: 10.1136/jmg.40.3.175. PMID: 12624135Free PMC Article

Recent clinical studies

Etiology

Eggenhuizen GM, Go ATJI, Sauter Z, Hoffer MJV, Haak MC, Geeven G, Diderich KEM, Joosten M, van den Born M, Srebniak MI, Van Opstal D
Prenat Diagn 2024 Mar;44(3):289-296. Epub 2024 Feb 11 doi: 10.1002/pd.6533. PMID: 38342960
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
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
Hanna CW, Blair JD, Stephenson MD, Robinson WP
Reprod Biomed Online 2012 Feb;24(2):251-3. Epub 2011 Nov 3 doi: 10.1016/j.rbmo.2011.10.013. PMID: 22197129
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

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
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
Tassano E, Alpigiani MG, Calcagno A, Salvati P, De Miglio L, Fiorio P, Cuoco C, Gimelli G
Eur J Med Genet 2015 Mar;58(3):194-8. Epub 2015 Jan 14 doi: 10.1016/j.ejmg.2014.12.016. PMID: 25596524
Zhou Y, Yao Q, Cui YX, Yao B, Fan K, Xia XY, Hu YA, Li XJ
Am J Med Genet A 2013 Apr;161A(4):897-900. Epub 2013 Mar 12 doi: 10.1002/ajmg.a.35782. PMID: 23495073
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

Gergely L, Korbeľ M, Danihel Ľ, Repiská V, Tomka M, McCullough L, Priščáková P
Ceska Gynekol 2024;89(5):396-399. doi: 10.48095/cccg2024396. PMID: 39537376
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

Clinical prediction guides

Eggenhuizen GM, Go ATJI, Sauter Z, Hoffer MJV, Haak MC, Geeven G, Diderich KEM, Joosten M, van den Born M, Srebniak MI, Van Opstal D
Prenat Diagn 2024 Mar;44(3):289-296. Epub 2024 Feb 11 doi: 10.1002/pd.6533. PMID: 38342960
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
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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