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Ring chromosome

MedGen UID:
11248
Concept ID:
C0035639
Cell or Molecular Dysfunction
Synonyms: Chromosome, Ring; Chromosomes, Ring; Ring Chromosome; Ring Chromosomes
SNOMED CT: Ring chromosome (23345003); Ring chromosome (1010276004)
 
Orphanet: ORPHA363203

Definition

An aberrant chromosome where the arms have fused to form a ring. [from NCI]

Professional guidelines

PubMed

Alsubhi S, Berrahmoune S, Dudley RWR, Dufresne D, Simard Tremblay E, Srour M, Myers KA
J Neurol 2024 May;271(5):2503-2508. Epub 2024 Jan 23 doi: 10.1007/s00415-023-12174-3. PMID: 38261030
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
Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M
Orphanet J Rare Dis 2017 Apr 11;12(1):69. doi: 10.1186/s13023-017-0606-4. PMID: 28399932Free PMC Article

Recent clinical studies

Etiology

Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J
Orphanet J Rare Dis 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. PMID: 35821070Free PMC Article
Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699
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
Sanlaville D, Schluth-Bolard C, Turleau C
Orphanet J Rare Dis 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. PMID: 19232094Free PMC Article
Johansson B, Mertens F, Mitelman F
Genes Chromosomes Cancer 1993 Dec;8(4):205-18. doi: 10.1002/gcc.2870080402. PMID: 7512363

Diagnosis

Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J
Orphanet J Rare Dis 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. PMID: 35821070Free PMC Article
Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699
Mantere T, Neveling K, Pebrel-Richard C, Benoist M, van der Zande G, Kater-Baats E, Baatout I, van Beek R, Yammine T, Oorsprong M, Hsoumi F, Olde-Weghuis D, Majdali W, Vermeulen S, Pauper M, Lebbar A, Stevens-Kroef M, Sanlaville D, Dupont JM, Smeets D, Hoischen A, Schluth-Bolard C, El Khattabi L
Am J Hum Genet 2021 Aug 5;108(8):1409-1422. Epub 2021 Jul 7 doi: 10.1016/j.ajhg.2021.05.012. PMID: 34237280Free PMC Article
Sanlaville D, Schluth-Bolard C, Turleau C
Orphanet J Rare Dis 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. PMID: 19232094Free PMC Article
Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article

Therapy

Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699
Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP
Epilepsy Res 2016 Dec;128:83-93. Epub 2016 Oct 24 doi: 10.1016/j.eplepsyres.2016.10.004. PMID: 27816898
Ohkubo K, Ihara K, Ohga S, Ishimura M, Hara T
Thyroid 2012 Oct;22(10):1080-3. Epub 2012 Sep 4 doi: 10.1089/thy.2011.0521. PMID: 22947348Free PMC Article
Elens I, Vanrykel K, De Waele L, Jansen K, Segeren M, Van Paesschen W, Ceulemans B, Boel M, Frijns JP, Buyse G, Lagae L
Epilepsy Behav 2012 Apr;23(4):409-14. Epub 2012 Mar 15 doi: 10.1016/j.yebeh.2012.02.008. PMID: 22424860
Nishi MY, Domenice S, Medeiros MA, Mendonca BB, Billerbeck AE
Am J Med Genet 2002 Feb 1;107(4):299-305. doi: 10.1002/ajmg.10168. PMID: 11840486

Prognosis

Sarri C, Douzgou S, Kontos H, Anagnostopoulou K, Tümer Z, Grigoriadou M, Petersen MB, Kokotas H, Merou K, Pandelia E, Giouroukou E, Papanikolaou K, Côté GB, Gyftodimou Y
Cytogenet Genome Res 2015;145(1):6-13. Epub 2015 May 14 doi: 10.1159/000382046. PMID: 25997743
Ieremia E, Thway K
Arch Pathol Lab Med 2014 Oct;138(10):1406-11. doi: 10.5858/arpa.2013-0549-RS. PMID: 25268202
Grossi A, Crinò A, Luciano R, Lombardo A, Cappa M, Fierabracci A
Ital J Pediatr 2013 Dec 20;39:79. doi: 10.1186/1824-7288-39-79. PMID: 24355069Free PMC Article
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

Clinical prediction guides

Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J
Orphanet J Rare Dis 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. PMID: 35821070Free 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
Chapiro E, Lesty C, Gabillaud C, Durot E, Bouzy S, Armand M, Le Garff-Tavernier M, Bougacha N, Struski S, Bidet A, Laharanne E, Barin C, Veronese L, Prié N, Eclache V, Gaillard B, Michaux L, Lefebvre C, Gaillard JB, Terré C, Penther D, Bastard C, Nadal N, Fert-Ferrer S, Auger N, Godon C, Sutton L, Tournilhac O, Susin SA, Nguyen-Khac F; GroupeFrancophone de Cytogénétique Hématologique(GFCH) and the French Innovative Leukemia Organization (FILO) group
Am J Hematol 2018 Mar;93(3):375-382. Epub 2017 Dec 18 doi: 10.1002/ajh.24990. PMID: 29194741
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB
Eur J Med Genet 2012 May;55(5):381-7. Epub 2012 Feb 22 doi: 10.1016/j.ejmg.2012.02.004. PMID: 22406087
Schinzel A, Niedrist D
Am J Med Genet 2001 Summer;106(2):119-24. doi: 10.1002/ajmg.1576. PMID: 11579431

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
Wannes S, El Ahmer I, Rjiba K, Jemmali N, Abdallah HH, Haj RB, Achour A, Bouzidi H, Saad A, Mougou S, Mahjoub B
Growth Horm IGF Res 2023 Aug;71:101550. Epub 2023 Jul 25 doi: 10.1016/j.ghir.2023.101550. PMID: 37531800
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
Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699

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