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Trisomy 17

MedGen UID:
1790520
•Concept ID:
C5551620
•
Cell or Molecular Dysfunction

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 17 in somatic cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrisomy 17

Professional guidelines

PubMed

Prenatal diagnosis of mosaicism for trisomy 17 in a single colony at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome.
Chen CP, Chen CY, Chern SR, Chen SW, Wu FT, Pan CW, Wang W
Taiwan J Obstet Gynecol 2022 May;61(3):558-559. doi: 10.1016/j.tjog.2022.03.039. PMID: 35595460
Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome.
Chen CP, Lin SY, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Wang W
Taiwan J Obstet Gynecol 2020 Mar;59(2):301-305. doi: 10.1016/j.tjog.2020.01.021. PMID: 32127154
Endothelin receptor antagonists are an effective long term treatment option in pulmonary arterial hypertension associated with congenital heart disease with or without trisomy 21.
Kermeen FD, Franks C, O'Brien K, Seale H, Hall K, McNeil K, Radford D
Heart Lung Circ 2010 Oct;19(10):595-600. Epub 2010 Aug 21 doi: 10.1016/j.hlc.2010.07.005. PMID: 20728407

Recent clinical studies

Etiology

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic.
Bangun K, Halim J, Tania V
Cleft Palate Craniofac J 2023 May;60(5):621-626. Epub 2021 Dec 30 doi: 10.1177/10556656211069820. PMID: 34967231
ARHGDIA Confers Selective Advantage to Dissociated Human Pluripotent Stem Cells.
Riggs MJ, Sheridan SD, Rao RR
Stem Cells Dev 2021 Jul 15;30(14):705-713. Epub 2021 Jun 29 doi: 10.1089/scd.2021.0079. PMID: 34036793Free PMC Article
Papillary Renal Neoplasm With Reverse Polarity: A Morphologic, Immunohistochemical, and Molecular Study.
Al-Obaidy KI, Eble JN, Cheng L, Williamson SR, Sakr WA, Gupta N, Idrees MT, Grignon DJ
Am J Surg Pathol 2019 Aug;43(8):1099-1111. doi: 10.1097/PAS.0000000000001288. PMID: 31135486
Atypical Renal Cysts: A Morphologic, Immunohistochemical, and Molecular Study.
Matoso A, Chen YB, Rao V, Wang L, Cheng L, Epstein JI
Am J Surg Pathol 2016 Feb;40(2):202-11. doi: 10.1097/PAS.0000000000000557. PMID: 26574846
Individualized Hormone Adjustment in the Treatment of Recurrent Spontaneous Abortions.
Shang W, Wang A, Lv L, Zhang L, Shu M, Zhao Y, Hui S
Cell Biochem Biophys 2015 Jul;72(3):817-20. doi: 10.1007/s12013-015-0539-2. PMID: 25638341

Diagnosis

Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis.
Chen CP, Chern SR, Wu PS, Chen SW, Lai ST, Wu FT, Town DD, Wang W
Taiwan J Obstet Gynecol 2020 Mar;59(2):306-313. doi: 10.1016/j.tjog.2020.01.022. PMID: 32127155
Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome.
Chen CP, Lin SY, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Wang W
Taiwan J Obstet Gynecol 2020 Mar;59(2):301-305. doi: 10.1016/j.tjog.2020.01.021. PMID: 32127154
Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review.
Chen CP, Wang LK, Chern SR, Chen YN, Chen SW, Wu PS, Town DD, Pan CW, Yang CW, Wang W
Taiwan J Obstet Gynecol 2016 Oct;55(5):712-717. doi: 10.1016/j.tjog.2016.07.006. PMID: 27751421
Mosaic trisomy 17: variable clinical and cytogenetic presentation.
Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB
Am J Med Genet A 2011 Oct;155A(10):2489-95. doi: 10.1002/ajmg.a.34172. PMID: 21998853Free PMC Article
Pre- and postnatal findings in trisomy 17 mosaicism.
Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D
Am J Med Genet A 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. PMID: 16802327

Therapy

Papillary Renal Neoplasm With Reverse Polarity: A Morphologic, Immunohistochemical, and Molecular Study.
Al-Obaidy KI, Eble JN, Cheng L, Williamson SR, Sakr WA, Gupta N, Idrees MT, Grignon DJ
Am J Surg Pathol 2019 Aug;43(8):1099-1111. doi: 10.1097/PAS.0000000000001288. PMID: 31135486
High hyperdiploid acute lymphoblastic leukemia (ALL)-A 25-year population-based survey of the Austrian ALL-BFM (Berlin-Frankfurt-Münster) Study Group.
Reismüller B, Steiner M, Pichler H, Dworzak M, Urban C, Meister B, Schmitt K, Pötschger U, König M, Mann G, Haas OA, Attarbaschi A; Austrian ALL-BFM (Berlin-Frankfurt-Münster) Study Group
Pediatr Blood Cancer 2017 Jun;64(6) Epub 2016 Nov 2 doi: 10.1002/pbc.26327. PMID: 27804199
The impact of additional cytogenetic abnormalities at diagnosis and during therapy with tyrosine kinase inhibitors in Chronic Myeloid Leukaemia.
Crisan AM, Coriu D, Arion C, Colita A, Jardan C
J Med Life 2015 Oct-Dec;8(4):502-8. PMID: 26664479Free PMC Article
Individualized Hormone Adjustment in the Treatment of Recurrent Spontaneous Abortions.
Shang W, Wang A, Lv L, Zhang L, Shu M, Zhao Y, Hui S
Cell Biochem Biophys 2015 Jul;72(3):817-20. doi: 10.1007/s12013-015-0539-2. PMID: 25638341
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

Prognosis

Papillary Renal Neoplasm With Reverse Polarity: A Morphologic, Immunohistochemical, and Molecular Study.
Al-Obaidy KI, Eble JN, Cheng L, Williamson SR, Sakr WA, Gupta N, Idrees MT, Grignon DJ
Am J Surg Pathol 2019 Aug;43(8):1099-1111. doi: 10.1097/PAS.0000000000001288. PMID: 31135486
Atypical Renal Cysts: A Morphologic, Immunohistochemical, and Molecular Study.
Matoso A, Chen YB, Rao V, Wang L, Cheng L, Epstein JI
Am J Surg Pathol 2016 Feb;40(2):202-11. doi: 10.1097/PAS.0000000000000557. PMID: 26574846
Mosaic trisomy 17: variable clinical and cytogenetic presentation.
Daber R, Chapman KA, Ruchelli E, Kasperski S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB
Am J Med Genet A 2011 Oct;155A(10):2489-95. doi: 10.1002/ajmg.a.34172. PMID: 21998853Free PMC Article
Cytogenetic and molecular tumor profiling for type 1 and type 2 papillary renal cell carcinoma.
Klatte T, Pantuck AJ, Said JW, Seligson DB, Rao NP, LaRochelle JC, Shuch B, Zisman A, Kabbinavar FF, Belldegrun AS
Clin Cancer Res 2009 Feb 15;15(4):1162-9. doi: 10.1158/1078-0432.CCR-08-1229. PMID: 19228721
Interphase cytogenetics in oncocytic adenomas and carcinomas of the thyroid gland.
Mazzucchelli L, Burckhardt E, Hirsiger H, Kappeler A, Laissue JA
Hum Pathol 2000 Jul;31(7):854-9. doi: 10.1053/hupa.2000.8444. PMID: 10923924

Clinical prediction guides

ARHGDIA Confers Selective Advantage to Dissociated Human Pluripotent Stem Cells.
Riggs MJ, Sheridan SD, Rao RR
Stem Cells Dev 2021 Jul 15;30(14):705-713. Epub 2021 Jun 29 doi: 10.1089/scd.2021.0079. PMID: 34036793Free PMC Article
Atypical Renal Cysts: A Morphologic, Immunohistochemical, and Molecular Study.
Matoso A, Chen YB, Rao V, Wang L, Cheng L, Epstein JI
Am J Surg Pathol 2016 Feb;40(2):202-11. doi: 10.1097/PAS.0000000000000557. PMID: 26574846
Chromosome 17 and 21 aneuploidy in buccal cells is increased with ageing and in Alzheimer's disease.
Thomas P, Fenech M
Mutagenesis 2008 Jan;23(1):57-65. Epub 2007 Nov 29 doi: 10.1093/mutage/gem044. PMID: 18048581
Trisomy 17 in a baboon (Papio hamadryas) with polydactyly, patent foramen ovale and pyelectasis.
Moore CM, Hubbard GB, Dick E, Dunn BG, Raveendran M, Rogers J, Williams V, Gomez JJ, Butler SD, Leland MM, Schlabritz-Loutsevitch NE
Am J Primatol 2007 Oct;69(10):1105-18. doi: 10.1002/ajp.20424. PMID: 17330307
A clinical and molecular study of mosaicism for trisomy 17.
Shaffer LG, McCaskill C, Hersh JH, Greenberg F, Lupski JR
Hum Genet 1996 Jan;97(1):69-72. doi: 10.1007/BF00218835. PMID: 8557263

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