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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

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
Chau MHK, Lam DYM, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung SWH, Lau TK, Ville Y, Leung TY, Choy KW
Prenat Diagn 2020 Jul;40(8):1005-1012. Epub 2020 May 17 doi: 10.1002/pd.5721. PMID: 32350887

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

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
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
Chen CP, Wang LK, Chern SR, Wu PS, Chen YT, Kuo YL, Chen WL, Lee MS, Wang W
Taiwan J Obstet Gynecol 2014 Mar;53(1):79-85. doi: 10.1016/j.tjog.2013.12.002. PMID: 24767652
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

Nikitina V, Astrelina T, Nugis V, Ostashkin A, Karaseva T, Dobrovolskaya E, Usupzhanova D, Suchkova Y, Lomonosova E, Rodin S, Brunchukov V, Lauk-Dubitskiy S, Brumberg V, Machova A, Kobzeva I, Bushmanov A, Samoilov A
PLoS One 2018;13(2):e0192445. Epub 2018 Feb 12 doi: 10.1371/journal.pone.0192445. PMID: 29432491Free 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
Au WY, Ma SK, Wan TS, Man C, Kwong YL
Cancer Genet Cytogenet 2003 Feb;141(1):79-82. doi: 10.1016/s0165-4608(02)00661-1. PMID: 12581903
Zhang L, Rothman N, Wang Y, Hayes RB, Li G, Dosemeci M, Yin S, Kolachana P, Titenko-Holland N, Smith MT
Carcinogenesis 1998 Nov;19(11):1955-61. doi: 10.1093/carcin/19.11.1955. PMID: 9855009

Prognosis

Haas OA, Borkhardt A
Leukemia 2022 Dec;36(12):2769-2783. Epub 2022 Oct 20 doi: 10.1038/s41375-022-01720-z. PMID: 36266323Free 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
Yan J, Marceau D, Drouin R
Cancer Genet Cytogenet 2001 Feb;125(1):14-20. doi: 10.1016/s0165-4608(00)00352-6. PMID: 11297762
Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F
J Craniomaxillofac Surg 2000 Jun;28(3):165-70. doi: 10.1054/jcms.2000.0126. PMID: 10964553

Clinical prediction guides

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
Zhou AG, Liu Y, Cyr MS, Garver J, Woda BA, Cosar EF, Hutchinson LM
Arch Pathol Lab Med 2016 Jun;140(6):552-9. doi: 10.5858/arpa.2015-0109-OA. PMID: 27232347
Giordano L, Viri M, Borgatti R, Lodi M, Accorsi P, Faravelli F, Ferretti MC, Grasso R, Memo L, Prola S, Pruna D, Santucci M, Savasta S, Verrotti A, Romeo A
Eur J Paediatr Neurol 2012 Nov;16(6):636-41. Epub 2012 Mar 29 doi: 10.1016/j.ejpn.2012.03.003. PMID: 22464827
Battaglia A
Orphanet J Rare Dis 2008 Nov 19;3:30. doi: 10.1186/1750-1172-3-30. PMID: 19019226Free PMC Article
Lurie IW
Genet Couns 2003;14(1):75-93. PMID: 12725592

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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