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Ring chromosome anomaly

MedGen UID:
988614
Concept ID:
CN305356
Finding
Synonyms: ring chromosome disorder; supernumerary circular chromosome
 
Monarch Initiative: MONDO:0700091

Definition

Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome. [from MONDO]

Professional guidelines

PubMed

Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium, Evans DG, van Ravenswaaij-Arts CMA, Kant SG
Eur J Med Genet 2023 Jul;66(7):104773. Epub 2023 Apr 28 doi: 10.1016/j.ejmg.2023.104773. PMID: 37120077
Vigneswaran TV, Allan L, Charakida M, Durward A, Simpson JM, Nicolaides KH, Zidere V
Prenat Diagn 2018 Dec;38(13):1055-1061. doi: 10.1002/pd.5388. PMID: 30421794
Vaudano AE, Ruggieri A, Vignoli A, Canevini MP, Meletti S
Epilepsy Behav 2015 Apr;45:155-63. Epub 2015 Apr 3 doi: 10.1016/j.yebeh.2015.02.002. PMID: 25843339

Recent clinical studies

Etiology

C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW
Nat Neurosci 2017 Apr;20(4):602-611. Epub 2017 Mar 6 doi: 10.1038/nn.4524. PMID: 28263302Free PMC Article
Vriend J, Marzban H
Cell Mol Life Sci 2017 Feb;74(3):449-467. Epub 2016 Sep 3 doi: 10.1007/s00018-016-2354-3. PMID: 27592301
Harrison CJ, Schwab C
Eur J Med Genet 2016 Mar;59(3):162-5. Epub 2016 Feb 2 doi: 10.1016/j.ejmg.2016.01.006. PMID: 26836400
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
Leppig KA, Disteche CM
Semin Reprod Med 2001 Jun;19(2):147-57. doi: 10.1055/s-2001-15395. PMID: 11480912

Diagnosis

Patnaik MM, Lasho TL
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):450-459. doi: 10.1182/hematology.2020000130. PMID: 33275756Free PMC Article
Cammarata-Scalisi F, Briceño Y, Cegarra E, Montilla D
Bol Med Hosp Infant Mex 2019;76(2):100-103. doi: 10.24875/BMHIM.18000108. PMID: 30907385
C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW
Nat Neurosci 2017 Apr;20(4):602-611. Epub 2017 Mar 6 doi: 10.1038/nn.4524. PMID: 28263302Free PMC Article
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Therapy

Chen M, Ke X, Liang H, Gong F, Yang H, Wang L, Duan L, Pan H, Cao D, Zhu H
Mol Genet Genomic Med 2021 Dec;9(12):e1842. Epub 2021 Nov 8 doi: 10.1002/mgg3.1842. PMID: 34747577Free PMC Article
Andreieva SV, Kyselova OA, Serbin IM, Alkhimova OG
Exp Oncol 2020 Jun;42(2):126-129. doi: 10.32471/exp-oncology.2312-8852.vol-42-no-2.14593. PMID: 32602288
Mantero F, Palermo M, Petrelli MD, Tedde R, Stewart PM, Shackleton CH
Steroids 1996 Apr;61(4):193-6. doi: 10.1016/0039-128x(96)00012-8. PMID: 8732999
Foucar K, Vaughan WP, Armitage JO, Patil S, Dick F, Karp JE
Am J Hematol 1983 Dec;15(4):321-34. doi: 10.1002/ajh.2830150403. PMID: 6650493
Foucar K, McKenna RW, Bloomfield CD, Bowers TK, Brunning RD
Cancer 1979 Apr;43(4):1285-96. doi: 10.1002/1097-0142(197904)43:4<1285::aid-cncr2820430416>3.0.co;2-j. PMID: 445330

Prognosis

Patnaik MM, Lasho TL
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):450-459. doi: 10.1182/hematology.2020000130. PMID: 33275756Free PMC Article
Vriend J, Marzban H
Cell Mol Life Sci 2017 Feb;74(3):449-467. Epub 2016 Sep 3 doi: 10.1007/s00018-016-2354-3. PMID: 27592301
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015 Nov;32:78-83. Epub 2015 Sep 28 doi: 10.1016/j.seizure.2015.09.013. PMID: 26552569
Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Clinical prediction guides

Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L
PLoS One 2021;16(7):e0253859. Epub 2021 Jul 6 doi: 10.1371/journal.pone.0253859. PMID: 34228749Free PMC Article
Paz-Y-Miño C, Guevara-Aguirre J, Paz-Y-Miño A, Velarde F, Armendáriz-Castillo I, Yumiceba V, Hernández JM, García JL, Leone PE
J Med Case Rep 2018 Nov 16;12(1):340. doi: 10.1186/s13256-018-1879-5. PMID: 30442194Free PMC Article
Vriend J, Marzban H
Cell Mol Life Sci 2017 Feb;74(3):449-467. Epub 2016 Sep 3 doi: 10.1007/s00018-016-2354-3. PMID: 27592301
Hansson KB, Gijsbers AC, Oostdijk W, Rehbock JJ, de Snoo F, Ruivenkamp CA, Kant SG
Eur J Med Genet 2012 Dec;55(12):708-14. Epub 2012 Aug 23 doi: 10.1016/j.ejmg.2012.08.004. PMID: 22975011
Park JP, Graham JM Jr, Andrews PA, Wurster-Hill DH
Am J Med Genet 1988 Feb;29(2):437-40. doi: 10.1002/ajmg.1320290228. PMID: 3354616

Recent systematic reviews

Yamashita H, Arakawa Y, Terada Y, Takeuchi Y, Mineharu Y, Sumiyoshi S, Tokunaga S, Nakajima K, Kawabata N, Tanaka K, Tanji M, Umeda K, Minamiguchi S, Ogawa S, Haga H, Takita J, Miyamoto S
Brain Tumor Pathol 2022 Oct;39(4):232-239. Epub 2022 Jun 24 doi: 10.1007/s10014-022-00440-7. PMID: 35750988
D'Antonio F, Khalil A, Zidere V, Carvalho JS
Ultrasound Obstet Gynecol 2016 Apr;47(4):423-32. Epub 2016 Mar 16 doi: 10.1002/uog.15805. PMID: 26643657

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