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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Ring Chromosomes

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Disease relevance of Ring Chromosomes


Psychiatry related information on Ring Chromosomes


High impact information on Ring Chromosomes

  • The phenotypically normal father and grandfather of the patient each had a small supernumerary ring chromosome and demonstrated three copies for the loci D22S9, D22S43, and ATP6E [7].
  • Studies of the ring chromosome that has XIST DNA but does not transcribe it show that its AR allele is transcribed along with the one on the normal X allele.(ABSTRACT TRUNCATED AT 250 WORDS)[8]
  • Telomeric sequences also were observed within a ring chromosome [9].
  • We found that a MAR had been deleted from one of the two rabbit immunoglobulin kappa-chain genes and that MARs reside next to a long interspersed repetitive element within the recombination junction of a human ring chromosome 21 [10].
  • Six cases of epilepsy associated with ring chromosome 20 are presented [11].

Chemical compound and disease context of Ring Chromosomes


Biological context of Ring Chromosomes


Anatomical context of Ring Chromosomes


Associations of Ring Chromosomes with chemical compounds

  • PET with 6-18F-L-3,4-fluorodihydroxyphenylalanine (18F-fluoro-L-DOPA) has recently demonstrated a reduction of striatal dopamine uptake in drug-resistant epileptic patients with ring chromosome 20 (r20) using a multiple-time graphical analysis [22].
  • The results indicate that DS cells exposed to bleomycin are hypersensitive to the production of dicentric and ring chromosomes compared to normal cells [23].
  • The induction of 2-break chromosome aberrations (dicentrics and ring chromosomes) in human lymphocytes by the antitumor agents bleomycin and peplomycin is strongly enhanced when those agents are applied together with the heart drug verapamil (isoptin) [24].

Gene context of Ring Chromosomes


Analytical, diagnostic and therapeutic context of Ring Chromosomes

  • The genetic and EEG finding from this patient strongly suggest that epilepsy associated with 20 ring chromosome syndrome is a distinct new entity, although the clinical manifestations may be broader than previously recognized [30].
  • In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side [31].


  1. A study of chromosomal changes associated with amplified dihydrofolate reductase genes in rat hepatoma cells and their dedifferentiated variants. Fougere-Deschatrette, C., Schimke, R.T., Weil, D., Weiss, M.C. J. Cell Biol. (1984) [Pubmed]
  2. Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. Sirvent, N., Maire, G., Pedeutour, F. Genes Chromosomes Cancer (2003) [Pubmed]
  3. Ring chromosome 6: case report and review of literature. Kini, K.R., Van Dyke, D.L., Weiss, L., Logan, M.S. Hum. Genet. (1979) [Pubmed]
  4. Phenotype associated with ring 10 chromosome: report of patient and review of literature. Michels, V.V., Driscoll, D.J., Ledbetter, D.H., Riccardi, V.M. Am. J. Med. Genet. (1981) [Pubmed]
  5. Ring chromosome 7 and sacral agenesis. Rodríguez, L., Sanchís, A., Villa, A., Cánovas, A., Peris, S., Estívalis, M., Pons, S., Martínez-Frías, M.L. Am. J. Med. Genet. (2000) [Pubmed]
  6. Neurological and neuropathological findings in ring chromosome 4. Young, R.S., Zalneraitis, E.L. J. Med. Genet. (1980) [Pubmed]
  7. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Mears, A.J., el-Shanti, H., Murray, J.C., McDermid, H.E., Patil, S.R. Am. J. Hum. Genet. (1995) [Pubmed]
  8. The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation. Migeon, B.R., Luo, S., Jani, M., Jeppesen, P. Am. J. Hum. Genet. (1994) [Pubmed]
  9. The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. Park, V.M., Gustashaw, K.M., Wathen, T.M. Am. J. Hum. Genet. (1992) [Pubmed]
  10. Dysfunction of chromosomal loop attachment sites: illegitimate recombination linked to matrix association regions and topoisomerase II. Sperry, A.O., Blasquez, V.C., Garrard, W.T. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  11. 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) [Pubmed]
  12. Polyhydramnios associated with a ring chromosome and low maternal serum alpha-fetoprotein levels managed with indomethacin. Kirshon, B., Cotton, D.B. Am. J. Obstet. Gynecol. (1988) [Pubmed]
  13. Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. vanTuinen, P., Dobyns, W.B., Rich, D.C., Summers, K.M., Robinson, T.J., Nakamura, Y., Ledbetter, D.H. Am. J. Hum. Genet. (1988) [Pubmed]
  14. Ring chromosome 4. McDermott, A., Voyce, M.A., Romain, D. J. Med. Genet. (1977) [Pubmed]
  15. MDM2 gene amplification correlates with ring chromosome in soft tissue tumors. Nilbert, M., Rydholm, A., Willén, H., Mitelman, F., Mandahl, N. Genes Chromosomes Cancer (1994) [Pubmed]
  16. Differential sensitivity to imatinib of 2 patients with metastatic sarcoma arising from dermatofibrosarcoma protuberans. Maki, R.G., Awan, R.A., Dixon, R.H., Jhanwar, S., Antonescu, C.R. Int. J. Cancer (2002) [Pubmed]
  17. Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome. Guttenbach, M., Köhler, J., Schmid, M. Hum. Genet. (1991) [Pubmed]
  18. Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. Wilson, G.N., Sauder, S.E., Bush, M., Beitins, I.Z. J. Med. Genet. (1985) [Pubmed]
  19. Constitutional extra chromosomal element in a family with Wilms' tumor. Kakati, S., Xiao, H., Siddiqui, S.Y., Sreekantaiah, C., Weier, H.U., Green, D.M., Fisher, J.E., Allen, J.E. Hum. Genet. (1991) [Pubmed]
  20. Chromosomes and causation of human cancer and leukemia. LI. A hairy cell leukemia case with 14q+ and ring chromosomes: significance of ring chromosomes in blood disorders. Sadamori, N., Han, T., Kakati, S., Sandberg, A.A. Cancer Genet. Cytogenet. (1983) [Pubmed]
  21. PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy. Biraben, A., Semah, F., Ribeiro, M.J., Douaud, G., Remy, P., Depaulis, A. Neurology (2004) [Pubmed]
  22. Involvement of the basal ganglia in refractory epilepsy: an 18F-fluoro-L-DOPA PET study using 2 methods of analysis. Bouilleret, V., Semah, F., Biraben, A., Taussig, D., Chassoux, F., Syrota, A., Ribeiro, M.J. J. Nucl. Med. (2005) [Pubmed]
  23. Bleomycin-induced chromosomal aberrations and sister chromatid exchanges in Down lymphocyte cultures. Iijima, K., Morimoto, K., Koizumi, A., Higurashi, M., Hirayama, M. Hum. Genet. (1984) [Pubmed]
  24. The cytogenetic efficiency of the antitumor agents bleomycin and peplomycin is enhanced by the heart drug verapamil (isoptin). Scheid, W., Oppermann, B., Traut, H. Experientia (1984) [Pubmed]
  25. Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody. Van Keuren, M., Drabkin, H., Hart, I., Harker, D., Patterson, D., Vora, S. Hum. Genet. (1986) [Pubmed]
  26. Influence of DNA repair gene polymorphisms on the yield of chromosomal aberrations. Kiuru, A., Lindholm, C., Heilimo, I., Ceppi, M., Koivistoinen, A., Ilus, T., Hirvonen, A., Norppa, H., Salomaa, S. Environ. Mol. Mutagen. (2005) [Pubmed]
  27. Use of a ring chromosome and pulsed-field gels to study interhomolog recombination, double-strand DNA breaks and sister-chromatid exchange in yeast. Game, J.C., Sitney, K.C., Cook, V.E., Mortimer, R.K. Genetics (1989) [Pubmed]
  28. A 61-kb ring chromosome shows an ARS-dependent increase in its mitotic stability in the mcm2 mutant of yeast. Ray, A., Roy, N., Maitra, M., Sinha, P. Curr. Genet. (1994) [Pubmed]
  29. Dilated ascending aorta in a child with ring chromosome 21 syndrome. Rope, A.F., Hinton, R.B., Spicer, R.L., Blough-Pfau, R., Saal, H.M. Am. J. Med. Genet. A (2004) [Pubmed]
  30. Ring 20 chromosome syndrome with epilepsy and dysmorphic features: a case report. García, D.M., Ortiz, R., Gómez, A., Barriuso, E. Epilepsia (2001) [Pubmed]
  31. Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia. Palmer, C.G., Blouin, J.L., Bull, M.J., Breitfeld, P., Vance, G.H., Van Meter, T., Weaver, D.D., Heerema, N.A., Colbern, S.G., Korenberg, J.R. Am. J. Med. Genet. (1995) [Pubmed]
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