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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

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
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
Prenatal diagnosis and clinical implications of an apparently isolated right aortic arch.
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
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome.
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

Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P
Epilepsia Open 2024 Aug;9(4):1192-1232. Epub 2024 Jun 4 doi: 10.1002/epi4.12951. PMID: 38837855Free PMC Article
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
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
Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia.
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
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome.
Inoue Y, Fujiwara T, Matsuda K, Kubota H, Tanaka M, Yagi K, Yamamori K, Takahashi Y
Brain 1997 Jun;120 ( Pt 6):939-53. doi: 10.1093/brain/120.6.939. PMID: 9217679

Diagnosis

Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P
Epilepsia Open 2024 Aug;9(4):1192-1232. Epub 2024 Jun 4 doi: 10.1002/epi4.12951. PMID: 38837855Free PMC Article
Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.
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
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
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
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome.
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
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Therapy

The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.
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
Ring chromosome may signal progression of Fanconi anemia.
Abdelgadir RE, Mohamed K, Elmula IF
Gulf J Oncolog 2016 Sep;1(22):43-46. PMID: 28191805
Partial epilepsy and developmental delay in infant with ring chromosome 14.
Imataka G, Noguchi M, Tsukada K, Takahashi T, Yamanouchi H, Arisaka O
Genet Couns 2013;24(1):81-3. PMID: 23610869
Postleukemic dysmyelopoiesis.
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
The ring chromosome 13 syndrome.
Martin NJ, Harvey PJ, Pearn JH
Hum Genet 1982;61(1):18-23. doi: 10.1007/BF00291324. PMID: 7129419

Prognosis

Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.
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
The ubiquitin-proteasome system and chromosome 17 in cerebellar granule cells and medulloblastoma subgroups.
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: 27592301Free PMC Article
Epilepsy and chromosome 18 abnormalities: A review.
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
Deletion 22q13.3 syndrome.
Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article
Monosomy 18p.
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

Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P
Epilepsia Open 2024 Aug;9(4):1192-1232. Epub 2024 Jun 4 doi: 10.1002/epi4.12951. PMID: 38837855Free PMC Article
The ubiquitin-proteasome system and chromosome 17 in cerebellar granule cells and medulloblastoma subgroups.
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: 27592301Free PMC Article
Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome.
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
Molecular and clinical characterization of patients with a ring chromosome 11.
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
Ring chromosome 12.
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

I(123)-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.
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
Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.
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
Fetuses with right aortic arch: a multicenter cohort study and meta-analysis.
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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