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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

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
Razon Y, Berant M, Fogelman R, Amir G, Birk E
J Am Soc Echocardiogr 2014 Dec;27(12):1352-8. Epub 2014 Sep 17 doi: 10.1016/j.echo.2014.08.003. PMID: 25240492

Recent clinical studies

Etiology

Bois E, Nassar M, Zenaty D, Léger J, Van Den Abbeele T, Teissier N
Eur Ann Otorhinolaryngol Head Neck Dis 2018 Feb;135(1):21-24. Epub 2017 Sep 21 doi: 10.1016/j.anorl.2017.08.006. PMID: 28941966
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
Soileau B, Hasi M, Sebold C, Hill A, O'Donnell L, Hale DE, Cody JD
J Genet Couns 2015 Aug;24(4):663-74. Epub 2014 Nov 19 doi: 10.1007/s10897-014-9793-5. PMID: 25403900
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889

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
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
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
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

Therapy

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
Sinha S, Jha DK, Sinha KK
J Assoc Physicians India 2001 Sep;49:881-4. PMID: 11837754
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, 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
Yamamoto M, Fujimori R, Ito T, Kamimura K, Watanabe G
Humangenetik 1975 Aug 29;29(1):9-14. doi: 10.1007/BF00273345. PMID: 1176132

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
Ieremia E, Thway K
Arch Pathol Lab Med 2014 Oct;138(10):1406-11. doi: 10.5858/arpa.2013-0549-RS. PMID: 25268202
Kaminska A, Oguni H
Handb Clin Neurol 2013;111:641-52. doi: 10.1016/B978-0-444-52891-9.00067-1. PMID: 23622212
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

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
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
Tamura G, Sato K, Akiyama S, Tsuchiya T, Endoh Y, Usuba O, Kimura W, Nishizuka S, Motoyama T
Lab Invest 2001 Apr;81(4):593-8. doi: 10.1038/labinvest.3780268. PMID: 11304579
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889
Chan GC, Wang WC, Raimondi SC, Behm FG, Krance RA, Chen G, Freiberg A, Ingram L, Butler D, Head DR
Leukemia 1997 Feb;11(2):206-11. doi: 10.1038/sj.leu.2400558. PMID: 9009082

Recent systematic reviews

Quintas S, Sanles-Falagan R, Berbís MÁ
Mov Disord Clin Pract 2024 Jun;11(6):613-625. Epub 2024 May 1 doi: 10.1002/mdc3.14055. PMID: 38693679Free PMC Article
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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