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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

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
Epilepsy-related brain networks in ring chromosome 20 syndrome: an EEG-fMRI study.
Vaudano AE, Ruggieri A, Vignoli A, Avanzini P, Benuzzi F, Gessaroli G, Nichelli PF, Darra F, Cantalupo G, Mastrangelo M, Dalla Bernardina B, Canevini MP, Meletti S
Epilepsia 2014 Mar;55(3):403-13. Epub 2014 Jan 31 doi: 10.1111/epi.12539. PMID: 24483620
Wilson's disease in Eastern India.
Sinha S, Jha DK, Sinha KK
J Assoc Physicians India 2001 Sep;49:881-4. PMID: 11837754
Apparent mineralocorticoid excess: type I and type II.
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

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
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
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
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.
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
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
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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