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Trisomy

MedGen UID:
21702
Concept ID:
C0041107
Cell or Molecular Dysfunction
Synonym: Chromosomal triplication
SNOMED CT: Trisomy (78989007)
 
Monarch Initiative: MONDO:0700065

Definition

A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. [from NCI]

Professional guidelines

PubMed

Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG; ACMG Board of Directors. Electronic address: documents@acmg.net
Genet Med 2023 Feb;25(2):100336. Epub 2022 Dec 16 doi: 10.1016/j.gim.2022.11.004. PMID: 36524989
Lagan N, Huggard D, Mc Grane F, Leahy TR, Franklin O, Roche E, Webb D, O' Marcaigh A, Cox D, El-Khuffash A, Greally P, Balfe J, Molloy EJ
Acta Paediatr 2020 Jun;109(6):1096-1111. Epub 2020 Jan 24 doi: 10.1111/apa.15153. PMID: 31899550
Obstet Gynecol 2016 May;127(5):e108-e122. doi: 10.1097/AOG.0000000000001405. PMID: 26938573

Recent clinical studies

Etiology

Hafezi N, Jensen AR, Saenz ZM, Collings AT, Colgate CL, Inanc Salih ZN, Geddes GC, Gray BW
J Pediatr Surg 2023 Aug;58(8):1512-1519. Epub 2022 Oct 22 doi: 10.1016/j.jpedsurg.2022.10.010. PMID: 36402594
Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Obstet Gynecol 2016 May;127(5):e108-e122. doi: 10.1097/AOG.0000000000001405. PMID: 26938573
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free 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

Diagnosis

Kagan KO, Sonek J, Kozlowski P
Arch Gynecol Obstet 2022 Apr;305(4):825-835. Epub 2022 Mar 13 doi: 10.1007/s00404-022-06477-5. PMID: 35279726Free PMC Article
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Sep;50(3):302-314. Epub 2017 Jul 27 doi: 10.1002/uog.17484. PMID: 28397325
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C
Am J Med Genet A 2015 Jan;167A(1):26-39. Epub 2014 Nov 20 doi: 10.1002/ajmg.a.36861. PMID: 25412855
Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA
Rev Paul Pediatr 2013 Jan-Mar;31(1):111-20. doi: 10.1590/s0103-05822013000100018. PMID: 23703053
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Therapy

Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
Magdy M, Abdel Karim N, Eldessouki I, Gaber O, Rahouma M, Ghareeb M
Oncol Res Treat 2019;42(4):224-229. Epub 2019 Mar 6 doi: 10.1159/000497210. PMID: 30840960
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Sep;50(3):302-314. Epub 2017 Jul 27 doi: 10.1002/uog.17484. PMID: 28397325
Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, Tomlinson MW, Pereira L, Spitz JL, Hollemon D, Cuckle H, Musci TJ, Wapner RJ
N Engl J Med 2015 Apr 23;372(17):1589-97. Epub 2015 Apr 1 doi: 10.1056/NEJMoa1407349. PMID: 25830321
Hassold T, Hunt P
Nat Rev Genet 2001 Apr;2(4):280-91. doi: 10.1038/35066065. PMID: 11283700

Prognosis

Czosek RJ, Baskar S, Mohan S, Anderson JB, Spar DS
Am J Med Genet A 2023 Oct;191(10):2518-2523. Epub 2023 Jun 12 doi: 10.1002/ajmg.a.63324. PMID: 37303261
van Prooyen Schuurman L, Sistermans EA, Van Opstal D, Henneman L, Bekker MN, Bax CJ, Pieters MJ, Bouman K, de Munnik S, den Hollander NS, Diderich KEM, Faas BHW, Feenstra I, Go ATJI, Hoffer MJV, Joosten M, Komdeur FL, Lichtenbelt KD, Lombardi MP, Polak MG, Jehee FS, Schuring-Blom H, Stevens SJC, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Meij KRM, van Maarle MC, Vernimmen V, van Zelderen-Bhola SL, van Ravesteyn NT, Knapen MFCM, Macville MVE, Galjaard RH; Dutch NIPT consortium
Am J Hum Genet 2022 Jun 2;109(6):1140-1152. doi: 10.1016/j.ajhg.2022.04.018. PMID: 35659929Free PMC Article
Alshemmari SH, Hamdah A, Pandita R, Kunhikrishnan A
Leuk Res 2021 Nov;110:106668. Epub 2021 Jul 15 doi: 10.1016/j.leukres.2021.106668. PMID: 34492597
Saper VE, Chen G, Deutsch GH, Guillerman RP, Birgmeier J, Jagadeesh K, Canna S, Schulert G, Deterding R, Xu J, Leung AN, Bouzoubaa L, Abulaban K, Baszis K, Behrens EM, Birmingham J, Casey A, Cidon M, Cron RQ, De A, De Benedetti F, Ferguson I, Fishman MP, Goodman SI, Graham TB, Grom AA, Haines K, Hazen M, Henderson LA, Ho A, Ibarra M, Inman CJ, Jerath R, Khawaja K, Kingsbury DJ, Klein-Gitelman M, Lai K, Lapidus S, Lin C, Lin J, Liptzin DR, Milojevic D, Mombourquette J, Onel K, Ozen S, Perez M, Phillippi K, Prahalad S, Radhakrishna S, Reinhardt A, Riskalla M, Rosenwasser N, Roth J, Schneider R, Schonenberg-Meinema D, Shenoi S, Smith JA, Sönmez HE, Stoll ML, Towe C, Vargas SO, Vehe RK, Young LR, Yang J, Desai T, Balise R, Lu Y, Tian L, Bejerano G, Davis MM, Khatri P, Mellins ED; Childhood Arthritis and Rheumatology Research Alliance Registry Investigators
Ann Rheum Dis 2019 Dec;78(12):1722-1731. Epub 2019 Sep 27 doi: 10.1136/annrheumdis-2019-216040. PMID: 31562126Free PMC Article
Hassold T, Hunt PA, Sherman S
Curr Opin Genet Dev 1993 Jun;3(3):398-403. doi: 10.1016/0959-437x(93)90111-2. PMID: 8353412

Clinical prediction guides

Wang Y, Shao Y, Yu J
Discov Med 2023 Jun;35(176):353-360. doi: 10.24976/Discov.Med.202335176.36. PMID: 37272102
Yang SY, Kang KM, Kim SY, Lim SY, Jang HY, Hong K, Cha DH, Shim SH, Joung JG
Int J Mol Sci 2022 Nov 30;23(23) doi: 10.3390/ijms232314990. PMID: 36499318Free PMC Article
Zhu X, Lam DYM, Chau MHK, Xue S, Dai P, Zhao G, Cao Y, Cheung SWH, Kwok YKY, Choy KW, Kong X, Leung TY
Genes (Basel) 2020 Dec 24;12(1) doi: 10.3390/genes12010011. PMID: 33374124Free PMC Article
Ertz-Archambault N, Kelemen K
Panminerva Med 2017 Dec;59(4):308-319. doi: 10.23736/S0031-0808.17.03380-8. PMID: 29144072
Sachdev NM, Maxwell SM, Besser AG, Grifo JA
Fertil Steril 2017 Jan;107(1):6-11. Epub 2016 Nov 11 doi: 10.1016/j.fertnstert.2016.10.006. PMID: 27842993

Recent systematic reviews

Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
Evans AM, Rome K, Carroll M, Hawke F
Cochrane Database Syst Rev 2022 Jan 26;1(1):CD006311. doi: 10.1002/14651858.CD006311.pub4. PMID: 35080267Free PMC Article
Evans AM, Rome K, Carroll M, Hawke F
Cochrane Database Syst Rev 2022 Jan 14;1(1):CD006311. doi: 10.1002/14651858.CD006311.pub3. PMID: 35029841Free PMC Article
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, Clarke A, Quenby S, Clarke A
BMJ Open 2016 Jan 18;6(1):e010002. doi: 10.1136/bmjopen-2015-010002. PMID: 26781507Free PMC Article

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