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Ring chromosome

Illustration showing how a ring chromosome forms.

A ring chromosome is when two ends of a chromosome come together and look like a ring. This can happen to any chromosome. It was first discovered in 1926 by American biologist Lilian Vaughan Morgan. There are many different symptoms someone may have if they have a ring chromosome. The most common symptom is a delay in growth. Most of the time, ring chromosomes happen randomly. About 1 in 50,000 people have a ring chromosome.

Formation

Most of the time, a ring chromosome will happen if the two ends of one chromosome are missing. This allows the ends to combine together to form a ring. Sometimes, the ends of the chromosomes won't be missing, but this is very rare. When this happens, the phenotype (appearance and body) of someone is usually normal. They usually do not know they have a ring chromosome.[1]

Ring chromosomes can be very complicated. Sometimes, small parts of the chromosome may be missing (microdeletion) or there may be a copy of it (microduplication).[2] Sometimes, someone may have three chromosomes (trisomy) instead of two with the extra chromosome being a ring chromosome.[3]

Any chromosome can be a ring chromosome.[3]

Ring chromosome syndromes

A ring chromosome syndrome is any genetic disorder that is caused by a ring chromosome. About 1 in 50,000 people have a ring chromosome syndrome.[4] The symptoms vary based on which chromosome is the ring chromosome. Most of the time, the symptoms vary widely, even in the same ring chromosome syndrome. However, most syndromes with a ring chromosome affect the way someone's body grows.[3]

List of ring chromosome syndromes

Chromosome Common symptoms Prevalence
Ring chromosome 1 Microcephaly (small head), intellectual disability, developmental delay[5][6] <1 in 1,000,000[6]
Ring chromosome 2 Developmental delay, skeleton issues, genital issues, deformities[7][8] <1 in 1,000,000[7]
Ring chromosome 3 Developmental delay, intellectual disability, deformities[9] <1 in 1,000,000[9]
Ring chromosome 4 Low birth weight, deformities, heart defects[10] <1 in 1,000,000[11]
Ring chromosome 5 Deformities, heart issues, skeletal issues, intellectual disability[12] Unknown[12]
Ring chromosome 6 Deformities, small eyes, intellectual disability[13] <1 in 1,000,000[14]
Ring chromosome 7 Intellectual disability, genital issues, skin issues, deformities[15] <1 in 1,000,000[15]
Ring chromosome 8 Minor deformities, intellectual disability[16] <1 in 1,000,000[16]
Ring chromosome 9 Developmental delay, intellectual disability, deformities[17] <1 in 1,000,000[17]
Ring chromosome 10 Developmental delay, intellectual disability, microcephaly[18] <1 in 1,000,000[19]
Ring chromosome 11 Developmental delay, intellectual disability, microcephaly[20] <1 in 1,000,000[21]
Ring chromosome 12 Heart issues, intellectual disability, developmental delay, microcephaly[22] <1 in 1,000,000[23]
Ring chromosome 13 Deformities, intellectual disability, developmental delay, genital issues[24]
Ring chromosome 14 Epilepsy, intellectual disability[25] <1 in 1,000,000
Ring chromosome 15 Intellectual disability, developmental delay, heart issues, spots of different colored skin[26] <1 in 1,000,000[27]
Ring chromosome 16 Developmental delay, intellectual disability, deformities[28] <1 in 1,000,000[29]
Ring chromosome 17 Intellectual disability, deformities, seizures[30] <1 in 1,000,000[31]
Ring chromosome 18 Developmental delay, intellectual disability, deformities[32] <1 in 1,000,000[33]
Ring chromosome 19 Physical issues, learning disability, intellectual disability[34] <1 in 1,000,000[34]
Ring chromosome 20 Epilepsy[35] <1 in 1,000,000
Ring chromosome 21 Physical issues, intellectual disability, epilepsy[36][37] Unknown[38]
Ring chromosome X Symptoms of Turner synrdome[39]
Ring chromosome Y Short height, infertility, ambiguous genitalia, bipolar disorder[40] Unknown[40]

References

  1. ↑ "Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation -- Arnedo et al. 20 (2): 462 -- Human Reproduction". web.archive.org. 2009-06-29. Retrieved 2025-01-15.
  2. ↑ Shchelochkov, Oleg A.; Cooper, M Lance; Ou, Zhishuo; Peacock, Sandra; Yatsenko, Svetlana A.; Brown, Chester W.; Fang, Ping; Stankiewicz, Pawel; Cheung, Sau Wai (2008-07-25). "Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement". Molecular Cytogenetics. 1 (1): 16. ISSN 1755-8166.
  3. ↑ 3.0 3.1 3.2 Yip, Moh-Ying (2015). "Autosomal ring chromosomes in human genetic disorders". Translational Pediatrics. 4 (2): 164–174. doi:10.3978/j.issn.2224-4336.2015.03.04. PMC 4729093. PMID 26835370.
  4. ↑ Li, Peining; Dupont, Barbara; Hu, Qiping; Crimi, Marco; Shen, Yiping; Lebedev, Igor; Liehr, Thomas (2022-09-10). "The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes". Human Genetics and Genomics Advances. 3 (4): 100139. doi:10.1016/j.xhgg.2022.100139. PMC 9519620. PMID 36187226.
  5. ↑ Bobrow, Martin; Emerson, Pauline M.; Spriggs, Arthur I.; Ellis, Hugh L. (1973-08-01). "Ring-1 Chromosome, Microcephalic Dwarfism, and Acute Myeloid Leukemia". American Journal of Diseases of Children. 126 (2): 257–260. doi:10.1001/archpedi.1973.02110190227024. ISSN 0002-922X.
  6. ↑ 6.0 6.1 "Orphanet: Ring chromosome 1 syndrome". www.orpha.net. Retrieved 2025-01-15.
  7. ↑ 7.0 7.1 "Orphanet: Ring chromosome 2 syndrome". www.orpha.net. Retrieved 2025-01-15.
  8. ↑ Lacassie, Yves; Arriaza, Marta I.; Vargas, Alfonso; La Motta, Ivan (1999). "Ring 2 chromosome: Ten-year follow-up report". American Journal of Medical Genetics (in français). 85 (2): 117–122. doi:10.1002/(SICI)1096-8628(19990716)85:2<117::AID-AJMG4>3.0.CO;2-O. ISSN 1096-8628.
  9. ↑ 9.0 9.1 "Orphanet: Ring chromosome 3 syndrome". www.orpha.net. Retrieved 2025-01-15.
  10. ↑ "Ring Chromosome 4 - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2025-01-15.
  11. ↑ "Orphanet: Ring chromosome 4 syndrome". www.orpha.net. Retrieved 2025-01-15.
  12. ↑ 12.0 12.1 "Orphanet: Ring chromosome 5 syndrome". www.orpha.net. Retrieved 2025-01-15.
  13. ↑ "Chromosome 6 Ring - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2025-01-15.
  14. ↑ "Orphanet: Ring chromosome 6 syndrome". www.orpha.net. Retrieved 2025-01-15.
  15. ↑ 15.0 15.1 "Orphanet: Ring chromosome 7 syndrome". www.orpha.net. Retrieved 2025-01-15.
  16. ↑ 16.0 16.1 "Orphanet: Ring chromosome 8 syndrome". www.orpha.net. Retrieved 2025-01-15.
  17. ↑ 17.0 17.1 "Orphanet: Ring chromosome 9 syndrome". www.orpha.net. Retrieved 2025-01-16.
  18. ↑ "Ring chromosome 10 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-01-16.
  19. ↑ "Orphanet: Ring chromosome 10 syndrome". www.orpha.net. Retrieved 2025-01-16.
  20. ↑ "Ring chromosome 11 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-01-16.
  21. ↑ "Orphanet: Ring chromosome 11 syndrome". www.orpha.net. Retrieved 2025-01-16.
  22. ↑ "Ring chromosome 12 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-01-16.
  23. ↑ "Orphanet: Ring chromosome 12 syndrome". www.orpha.net. Retrieved 2025-01-16.
  24. ↑ "Ring chromosome 13 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-01-16.
  25. ↑ "Ring chromosome 14 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-01-16.
  26. ↑ "Ring chromosome 15 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-01-16.
  27. ↑ "Orphanet: Ring chromosome 15 syndrome". www.orpha.net. Retrieved 2025-01-16.
  28. ↑ "Ring chromosome 16 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-01-16.
  29. ↑ "Orphanet: Ring chromosome 16 syndrome". www.orpha.net. Retrieved 2025-01-16.
  30. ↑ "Ring chromosome 17 - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2025-01-16.
  31. ↑ "Orphanet: Ring chromosome 17 syndrome". www.orpha.net. Retrieved 2025-01-16.
  32. ↑ "Chromosome 18 Ring - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2025-01-16.
  33. ↑ "Orphanet: Ring chromosome 18 syndrome". www.orpha.net. Retrieved 2025-01-16.
  34. ↑ 34.0 34.1 "Orphanet: Ring chromosome 19 syndrome". www.orpha.net. Retrieved 2025-01-16.
  35. ↑ "Ring chromosome 20 syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2025-01-16.
  36. ↑ "Orphanet: Ring chromosome 21 syndrome". www.orpha.net. Retrieved 2025-01-16.
  37. ↑ "Chromosome 21 Ring - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2025-01-16.
  38. ↑ "Orphanet: Ring chromosome 21 syndrome". www.orpha.net. Retrieved 2025-01-16.
  39. ↑ Leppig, K. A.; Disteche, C. M. (2001). "Ring X and other structural X chromosome abnormalities: X inactivation and phenotype". Seminars in Reproductive Medicine. 19 (2): 147–157. ISSN 1526-8004. PMID 11480912.
  40. ↑ 40.0 40.1

    Ring Chromosome Media

    • Representative karyotype from a well differentiated transitional cell carcinoma of the bladder. The chromosome indicated by "mar" represents unidentified marker, "r" represents ring chromosome. Arrowheads indicate breakpoints. Also evident are monosomy 9, 18, and X and trisomy 7.

    "Orphanet: Ring chromosome Y syndrome". www.orpha.net. Retrieved 2025-01-15.

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