Medicine:Ring chromosome

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Short description: Chromosome whose ends have fused together to form a ring
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.

A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Early observations of ring chromosomes were made during the development of cytogenetics in the early 20th century. Lilian Vaughan Morgan reported an unusual X chromosome in Drosophila melanogaster in 1926 that appeared “almost or entirely closed and somewhat rounded,” a structure later interpreted as a ring chromosome.[1] In 1930, Mikhail Sergeevich Navashin described chromosomes in species of Crepis whose ends had fused to form a closed ring, providing the first explicit cytological description of ring chromosomes in plants.[2] Barbara McClintock subsequently reported ring chromosomes in maize in 1931 and carried out detailed studies of their behavior and instability in plant cells.[3] Early cytological syntheses subsequently listed ring chromosomes in Crepis (Navashin, 1930), Drosophila (L. V. Morgan, 1933), and maize (McClintock, 1932).[4]

A ring chromosome is denoted by the symbol r in human genetics and R in Drosophila genetics. Ring chromosomes may form in cells following genetic damage by mutagens like radiation, but they may also arise spontaneously during development.

Formation

Formation of a ring chromosome.

In order for a chromosome to form a ring, both ends of the chromosome are usually missing, enabling the broken ends to fuse together. In rare cases, the telomeres at the ends of a chromosome fuse without any loss of genetic material, which results in a normal phenotype.[5]

Complex rearrangements, including segmental microdeletions and microduplications, have been seen in numerous ring chromosomes, providing important clues regarding the mechanisms of their formation.[6]

Small supernumerary rings can also form, resulting in a partial trisomy.[7]

Ring chromosomes are unstable during cell division and can form interlocking or fused rings.[7]

Associated syndromes

Human genetic disorders can be caused by ring chromosome formation. Although ring chromosomes are very rare, they have been found in all human chromosomes. Symptoms seen in patients carrying ring chromosomes are more likely to be caused by the deletion of genes in the telomeric regions of affected chromosomes, rather than by the formation of a ring structure itself.[8] Almost all ring chromosome syndromes feature marked growth delay.[7]

Ring chromosomes can be inherited or sporadic. Mosaicism is common and affects the severity of the condition.[8] Location of fusion also affects severity due to loss of differing amounts of genetic material from the ends of chromosomes.

Disorders arising from the formation of a ring chromosome include:

Chromosome Typical features Reference
Ring chromosome 1 Microcephaly, facial abnormalities [9][10]
Ring chromosome 2 Small stature [11][12][13][14]
Ring chromosome 3 [15][16][17]
Ring chromosome 4 Craniofacial abnormalities [18][19][20]
Ring chromosome 5 [21][22][23]
Ring chromosome 6 Microcephaly, facial abnormalities, hand abnormalities [24][25]
Ring chromosome 7 Craniofacial abnormalities, speech deficits [26][27][28]
Ring chromosome 8 Craniofacial abnormalities, hydronephrosis, hand abnormalities [29][30][31]
Ring chromosome 9 Delayed growth, abnormal facial features, low muscle tone [32][33][34]
Ring chromosome 10 Delayed growth, facial dysmorphism, reproductive abnormalities [35][36]
Ring chromosome 11 [37][38]
Ring chromosome 12 Delayed growth, abnormal facial features, microcephaly [39][40][41]
Ring chromosome 13 Microcephaly, delayed growth, reproductive abnormalities [42][43]
Ring chromosome 14 Epilepsy, intellectual disability [44][45]
Ring chromosome 15 Growth delay, microcephaly, intellectual disability [46][47][48]
Ring chromosome 16 Microcephaly, growth delay, facial abnormalities [49][50]
Ring chromosome 17 [51][52]
Ring chromosome 18 Growth delay, facial abnormalities [53][54]
Ring chromosome 19 [55][56]
Ring chromosome 20 Epilepsy, abnormal facial features, growth delay [57][58]
Ring chromosome 21 Short stature, microcephaly, reproductive abnormalities [59][60]
Ring chromosome 22 Hypotonia, autistic-like behavior [61][62]
Ring chromosome X Turner syndrome
Ring chromosome Y [63][64]

See also

  • Chromosome abnormalities

References

  1. ↑ Morgan, L. V. (1926). "Correlation between shape and behavior of a chromosome". Proceedings of the National Academy of Sciences of the United States of America 12 (3): 180–181. doi:10.1073/pnas.12.3.180. PMID 16576974. 
  2. ↑ Navashin, M. S. (1930). Unbalanced somatic chromosomal variation in Crepis. University of California Publications in Agricultural Sciences. 6. Berkeley, Calif.: University of California Press. pp. 95–106. doi:10.5962/bhl.title.61377. 
  3. ↑ Kass, Lee B. (2013). From Chromosomes to Mobile Genetic Elements: The Discovery of Transposable Elements. Oxford University Press. p. 80. ISBN 9781032365329. 
  4. ↑ Darlington, Cyril D. (1937). Recent Advances in Cytology. Philadelphia: P. Blakiston's Son & Co.. p. 351. doi:10.5962/bhl.title.6597. 
  5. ↑ Arnedo, Núria; Nogués, Carme; Bosch, Mercè; Templado, Cristina (2009-06-29). "Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation -- Arnedo et al. 20 (2): 462 -- Human Reproduction". Human Reproduction 20 (2): 462–468. doi:10.1093/humrep/deh598. PMID 15528264. http://humrep.oxfordjournals.org/cgi/reprint/20/2/462. Retrieved 2025-01-15. 
  6. ↑ Shchelochkov, Oleg A.; Cooper, M Lance; Ou, Zhishuo; Peacock, Sandra; Yatsenko, Svetlana A.; Brown, Chester W.; Fang, Ping; Stankiewicz, Pawel et al. (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. doi:10.1186/1755-8166-1-16. ISSN 1755-8166. PMID 18655707. 
  7. ↑ 7.0 7.1 7.2 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. PMID 26835370. 
  8. ↑ 8.0 8.1 "ClinicalKey". https://www.clinicalkey.com/#!/content/book/3-s2.0-B9781455775668000818?scrollTo=#hl0003126. 
  9. ↑ "Ring chromosome 1 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/1320/index. 
  10. ↑ "ring chromosome 1 - National Organization for Rare Disorders" (in en-US). https://rarediseases.org/mondo-disease/ring-chromosome-1/. 
  11. ↑ "Orphanet: Ring chromosome 2 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12795&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-2-syndrome&title=Ring-chromosome-2-syndrome&search=Disease_Search_Simple. 
  12. ↑ "Ring 2". http://www.rarechromo.org/information/Chromosome%20%202/Ring%202%20FTNW.pdf. 
  13. ↑ "Ring chromosome 2 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2/. 
  14. ↑ "ring chromosome 2 - National Organization for Rare Disorders" (in en-US). https://rarediseases.org/mondo-disease/ring-chromosome-2/. 
  15. ↑ "Orphanet: Ring chromosome 3 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12796&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-3-syndrome&title=Ring-chromosome-3-syndrome&search=Disease_Search_Simple. 
  16. ↑ "Ring chromosome 3 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3/. 
  17. ↑ "ring chromosome 3 - National Organization for Rare Disorders" (in en-US). https://rarediseases.org/mondo-disease/ring-chromosome-3/. 
  18. ↑ "Orphanet: Ring chromosome 4 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1079&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-4-syndrome&title=Ring-chromosome-4-syndrome&search=Disease_Search_Simple. 
  19. ↑ "Ring chromosome 4 syndrome | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4-syndrome/. 
  20. ↑ "Ring Chromosome 4 - Symptoms, Causes, Treatment | NORD" (in en-US). https://rarediseases.org/rare-diseases/ring-chromosome-4/. 
  21. ↑ "Orphanet: Ring chromosome 5 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=19608&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-5-syndrome&title=Ring-chromosome-5-syndrome&search=Disease_Search_Simple. 
  22. ↑ "Ring chromosome 5 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5/. 
  23. ↑ "ring chromosome 5 - National Organization for Rare Disorders" (in en-US). https://rarediseases.org/mondo-disease/ring-chromosome-5/. 
  24. ↑ "Orphanet: Ring chromosome 6 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1080&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-6-syndrome&title=Ring-chromosome-6-syndrome&search=Disease_Search_Simple. 
  25. ↑ "Ring chromosome 6 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6/. 
  26. ↑ "Orphanet: Ring chromosome 7 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1642&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-7-syndrome&title=Ring-chromosome-7-syndrome&search=Disease_Search_Simple. 
  27. ↑ "Ring chromosome 7 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7/. 
  28. ↑ "ring chromosome 7 - National Organization for Rare Disorders" (in en-US). https://rarediseases.org/mondo-disease/ring-chromosome-7/. 
  29. ↑ "Ring chromosome 8 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/1347/ring-chromosome-8. 
  30. ↑ "Chromosome 8-derived supernumerary ring/marker | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1347/chromosome-8-derived-supernumerary-ringmarker/. 
  31. ↑ "Orphanet: Ring chromosome 8 syndrome" (in en). https://www.orpha.net/en/disease/detail/1450. 
  32. ↑ "Ring chromosome 9 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9/. 
  33. ↑ "Orphanet: Ring chromosome 9 syndrome" (in en). https://www.orpha.net/en/disease/detail/96173. 
  34. ↑ "Ring 9". http://www.rarechromo.org/information/Chromosome%20%209/Ring%209%20FTNW.pdf. 
  35. ↑ "Orphanet: Ring chromosome 10 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1076&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-10-syndrome&title=Ring-chromosome-10-syndrome&search=Disease_Search_Simple. 
  36. ↑ "Ring chromosome 10 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10/. 
  37. ↑ "Ring chromosome 11 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/10846/index. 
  38. ↑ "Ring chromosome 11 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11. 
  39. ↑ "Orphanet: Ring chromosome 12 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1077&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-12-syndrome&title=Ring-chromosome-12-syndrome&search=Disease_Search_Simple. 
  40. ↑ "Ring chromosome 12 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/1325/index. 
  41. ↑ "Ring chromosome 12 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12. 
  42. ↑ "Ring chromosome 13 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13. 
  43. ↑ "Orphanet: Ring chromosome 13 syndrome" (in en). https://www.orpha.net/en/disease/detail/96176. 
  44. ↑ "Orphanet: Ring chromosome 13 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12800&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-13-syndrome&title=Ring-chromosome-13-syndrome&search=Disease_Search_Simple. 
  45. ↑ "Ring chromosome 14 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14/. 
  46. ↑ "Ring chromosome 15 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15/. 
  47. ↑ "Orphanet: Ring chromosome 15 syndrome" (in en). https://www.orpha.net/en/disease/detail/96177. 
  48. ↑ "Ring 15". http://www.rarechromo.org/information/Chromosome%2015/Ring%2015%20FTNW.pdf. 
  49. ↑ "Orphanet: Ring chromosome 16 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12802&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-16-syndrome&title=Ring-chromosome-16-syndrome&search=Disease_Search_Simple. 
  50. ↑ "Ring chromosome 16 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16. 
  51. ↑ "Orphanet: Ring chromosome 17 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3505&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-17-syndrome&title=Ring-chromosome-17-syndrome&search=Disease_Search_Simple. 
  52. ↑ "Ring chromosome 17 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17. 
  53. ↑ "Orphanet: Ring chromosome 18 syndrome" (in en). https://www.orpha.net/en/disease/detail/1442. 
  54. ↑ "Ring chromosome 18 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18/. 
  55. ↑ "Orphanet: Ring chromosome 19 syndrome" (in en). https://www.orpha.net/en/disease/detail/1443. 
  56. ↑ "Ring chromosome 19 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19. 
  57. ↑ "Orphanet: Ring chromosome 20 syndrome" (in en). https://www.orpha.net/en/disease/detail/1444. 
  58. ↑ "Ring chromosome 20 syndrome | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20-syndrome. 
  59. ↑ "Orphanet: Ring chromosome 21 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1241&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-21-syndrome&title=Ring-chromosome-21-syndrome&search=Disease_Search_Simple. 
  60. ↑ "Ring chromosome 21 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21/. 
  61. ↑ "Orphanet: Ring chromosome 22 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=896&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-22-syndrome&title=Ring-chromosome-22-syndrome&search=Disease_Search_Simple. 
  62. ↑ "Ring chromosome 22 | About the Disease | GARD" (in en). https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22/. 
  63. ↑ "Orphanet: Ring chromosome Y syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=19886&Disease_Disease_Search_diseaseGroup=chromosome-ring&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-Y-syndrome&title=Ring-chromosome-Y-syndrome&search=Disease_Search_Simple. 
  64. ↑ "ring chromosome Y - National Organization for Rare Disorders" (in en-US). https://rarediseases.org/mondo-disease/ring-chromosome-y/. 



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