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Tetrasomy

MedGen UID:
90710
Concept ID:
C0333689
Cell or Molecular Dysfunction
Synonym: Tetrasomies
SNOMED CT: Tetrasomy (29996004)
 
Monarch Initiative: MONDO:0030502

Definition

A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTetrasomy

Professional guidelines

PubMed

Chen CP
Taiwan J Obstet Gynecol 2024 Sep;63(5):633-636. doi: 10.1016/j.tjog.2024.07.004. PMID: 39266143
Zhang F, Yin T, Tang X, Ma S, Meng Q, Song J, Wang Y, Men S, Wang L
J Assist Reprod Genet 2023 Sep;40(9):2233-2240. Epub 2023 Jul 28 doi: 10.1007/s10815-023-02896-8. PMID: 37501006Free PMC Article
Hu H, Huang Y, Hou R, Xu H, Liu Y, Liao X, Xu J, Jiang L, Wang D
BMC Med Genomics 2023 Apr 3;16(1):69. doi: 10.1186/s12920-023-01493-z. PMID: 37013593Free PMC Article

Recent clinical studies

Etiology

Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
Hutaff-Lee C, Cordeiro L, Tartaglia N
Handb Clin Neurol 2013;111:273-9. doi: 10.1016/B978-0-444-52891-9.00030-0. PMID: 23622175
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):1-8. doi: 10.1016/S1028-4559(08)60099-6. PMID: 17389182
Sybert VP
J Invest Dermatol 1994 Nov;103(5 Suppl):141S-143S. doi: 10.1111/1523-1747.ep12399466. PMID: 7963677

Diagnosis

Chen CP
Taiwan J Obstet Gynecol 2024 Sep;63(5):633-636. doi: 10.1016/j.tjog.2024.07.004. PMID: 39266143
Quintanilla-Martinez L, Laurent C, Soma L, Ng SB, Climent F, Ondrejka SL, Zamo A, Wotherspoon A, de Leval L, Dirnhofer S, Leoncini L
Virchows Arch 2023 Sep;483(3):281-298. Epub 2023 Aug 9 doi: 10.1007/s00428-023-03590-x. PMID: 37555980Free PMC Article
Blakey-Cheung S, Parker P, Schlaff W, Monseur B, Keppler-Noreuil K, Al-Kouatly HB
Eur J Med Genet 2020 Jan;63(1):103634. Epub 2019 Feb 21 doi: 10.1016/j.ejmg.2019.02.006. PMID: 30797979
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P
Acta Paediatr 2011 Jun;100(6):851-60. Epub 2011 Apr 8 doi: 10.1111/j.1651-2227.2011.02235.x. PMID: 21342258Free PMC Article
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Therapy

Yang F, Todd RT, Selmecki A, Jiang YY, Cao YB, Berman J
Genetics 2021 Jun 24;218(2) doi: 10.1093/genetics/iyab056. PMID: 33837402Free PMC Article
Zhang L, Zhang X, Liu Y, Zhang T, Wang Z, Gu M, Li Y, Wang DD, Li W, Lin PP
Cancer Lett 2020 Jan 28;469:355-366. Epub 2019 Oct 31 doi: 10.1016/j.canlet.2019.10.041. PMID: 31678168
Lan Q, Smith MT, Tang X, Guo W, Vermeulen R, Ji Z, Hu W, Hubbard AE, Shen M, McHale CM, Qiu C, Liu S, Reiss B, Beane-Freeman L, Blair A, Ge Y, Xiong J, Li L, Rappaport SM, Huang H, Rothman N, Zhang L
Carcinogenesis 2015 Jan;36(1):160-7. Epub 2014 Nov 12 doi: 10.1093/carcin/bgu229. PMID: 25391402Free PMC Article
Roug AS, Wendtland P, Bendix K, Kjeldsen E
Cytogenet Genome Res 2014;142(1):7-13. Epub 2013 Nov 8 doi: 10.1159/000355985. PMID: 24217199
Sandoval C, Pine SR, Guo Q, Sastry S, Stewart J, Kronn D, Jayabose S
Pediatr Blood Cancer 2005 Jan;44(1):85-91. doi: 10.1002/pbc.20161. PMID: 15390279

Prognosis

Shimony S, Chen EC
Br J Haematol 2024 Mar;204(3):751-752. Epub 2024 Jan 8 doi: 10.1111/bjh.19294. PMID: 38190804
Quintanilla-Martinez L, Laurent C, Soma L, Ng SB, Climent F, Ondrejka SL, Zamo A, Wotherspoon A, de Leval L, Dirnhofer S, Leoncini L
Virchows Arch 2023 Sep;483(3):281-298. Epub 2023 Aug 9 doi: 10.1007/s00428-023-03590-x. PMID: 37555980Free PMC Article
Hu H, Huang Y, Hou R, Xu H, Liu Y, Liao X, Xu J, Jiang L, Wang D
BMC Med Genomics 2023 Apr 3;16(1):69. doi: 10.1186/s12920-023-01493-z. PMID: 37013593Free PMC Article
Myers JN Jr, Davis L, Sheehan D, Kulharya AS
Pediatr Dermatol 2015 Mar-Apr;32(2):263-6. Epub 2014 Jun 12 doi: 10.1111/pde.12375. PMID: 24920397
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L
Orphanet J Rare Dis 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. PMID: 20459843Free PMC Article

Clinical prediction guides

Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM
Orphanet J Rare Dis 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. PMID: 38459574Free PMC Article
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G
Am J Med Genet A 2024 Apr;194(4):e63476. Epub 2023 Nov 16 doi: 10.1002/ajmg.a.63476. PMID: 37974505
Hu H, Huang Y, Hou R, Xu H, Liu Y, Liao X, Xu J, Jiang L, Wang D
BMC Med Genomics 2023 Apr 3;16(1):69. doi: 10.1186/s12920-023-01493-z. PMID: 37013593Free PMC Article
Thakur S, Gupta R, Tiwari B, Singh N, Saxena KK
Clin Genet 2019 Jan;95(1):79-84. Epub 2018 Jun 29 doi: 10.1111/cge.13381. PMID: 29790157
Schinzel A, Niedrist D
Am J Med Genet 2001 Summer;106(2):119-24. doi: 10.1002/ajmg.1576. PMID: 11579431

Recent systematic reviews

Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL
J Pediatr Ophthalmol Strabismus 2021 Nov-Dec;58(6):e44-e48. Epub 2021 Nov 1 doi: 10.3928/01913913-20210826-01. PMID: 34851787

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