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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

Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing.
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
Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.
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
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
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

Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
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
Cognitive and medical features of chromosomal aneuploidy.
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
A review of trisomy X (47,XXX).
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
Chromosomal abnormalities associated with omphalocele.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):1-8. doi: 10.1016/S1028-4559(08)60099-6. PMID: 17389182
Hypomelanosis of Ito: a description, not a diagnosis.
Sybert VP
J Invest Dermatol 1994 Nov;103(5 Suppl):141S-143S. doi: 10.1111/1523-1747.ep12399466. PMID: 7963677

Diagnosis

Emerging entities: high-grade/large B-cell lymphoma with 11q aberration, large B-cell lymphoma with IRF4 rearrangement, and new molecular subgroups in large B-cell lymphomas. A report of the 2022 EA4HP/SH lymphoma workshop.
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
Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
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
Diagnosis and clinical delineation of mosaic tetrasomy 5p.
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
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
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
A review of trisomy X (47,XXX).
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

PD-L1(+) aneuploid circulating tumor endothelial cells (CTECs) exhibit resistance to the checkpoint blockade immunotherapy in advanced NSCLC patients.
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
Clonal chromosomal and genomic instability during human multipotent mesenchymal stromal cells long-term culture.
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
Supernumerary isochromosome 1, idic(1)(p12), leading to tetrasomy 1q in Burkitt lymphoma.
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
Tetraploidy and chromosomal instability are early events during cervical carcinogenesis.
Olaharski AJ, Sotelo R, Solorza-Luna G, Gonsebatt ME, Guzman P, Mohar A, Eastmond DA
Carcinogenesis 2006 Feb;27(2):337-43. Epub 2005 Aug 25 doi: 10.1093/carcin/bgi218. PMID: 16123119
Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature.
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

Tri-ing to decipher trisomy AML.
Shimony S, Chen EC
Br J Haematol 2024 Mar;204(3):751-752. Epub 2024 Jan 8 doi: 10.1111/bjh.19294. PMID: 38190804
Emerging entities: high-grade/large B-cell lymphoma with 11q aberration, large B-cell lymphoma with IRF4 rearrangement, and new molecular subgroups in large B-cell lymphomas. A report of the 2022 EA4HP/SH lymphoma workshop.
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
Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.
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
Hyperdiploidy: the longest known, most prevalent, and most enigmatic form of acute lymphoblastic leukemia in children.
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
A review of trisomy X (47,XXX).
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

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
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, Schulze MB, 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
Cognitive, Behavioral, and Sensory Profile of Pallister-Killian Syndrome: A Prospective Study of 22 Individuals.
Fetta A, Soliani L, Trevisan A, Pugliano R, Ricci E, Di Pisa V, Pignataro V, Angotti M, Rocca A, Salce B, Mancardi MM, Giordano L, Pruna D, Parmeggiani A, Cordelli DM
Genes (Basel) 2022 Feb 16;13(2) doi: 10.3390/genes13020356. PMID: 35205401Free PMC Article
Pallister-Killian syndrome: Review of fetal phenotype.
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
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).
Battaglia A
Orphanet J Rare Dis 2008 Nov 19;3:30. doi: 10.1186/1750-1172-3-30. PMID: 19019226Free PMC Article
Chromosome imbalances associated with epilepsy.
Schinzel A, Niedrist D
Am J Med Genet 2001 Summer;106(2):119-24. doi: 10.1002/ajmg.1576. PMID: 11579431

Recent systematic reviews

Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
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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