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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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital chromosomal disease
- CROGVAutosomal anomaly
  - CROGVAutosomal monosomy
    - CROGVRing chromosome
- CROGVAutosomal chromosomal disorder
  - CROGVChromosome 13q trisomy
  - CROGVChromosome 3, trisomy 3p
  - CROGVChromosome 5, trisomy 5p
  - CROGVComplete trisomy 13 syndrome
  - CROGVComplete trisomy 20 syndrome
  - CROGVDown syndrome
    - CROGVTranslocation Down syndrome
    - CROGVTrisomy 21
  - CROGVTrisomy 8
  - CROGVTrisomy 18
- CROGVRing chromosome anomaly
- CROGVSex-linked hereditary disorder

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital chromosomal disease
      - Ring chromosome anomaly

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

See all (16)

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: 38837855 Free PMC Article

Otologic disorders in Turner syndrome.

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

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: 28263302 Free 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

Monosomy 18p.

Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672 Free PMC Article

See all (188)

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: 38837855 Free 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: 33275756 Free PMC Article

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

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

Monosomy 18p.

Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672 Free PMC Article

See all (277)

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: 34747577 Free 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

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

See all (40)

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: 33275756 Free 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: 27592301 Free 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: 18505557 Free PMC Article

Monosomy 18p.

Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672 Free PMC Article

See all (123)

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: 38837855 Free 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: 34228749 Free 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: 30442194 Free 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: 27592301 Free 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

See all (169)

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: 38693679 Free 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

See all (3)

MedGen

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Ring chromosome anomaly

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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