Journal of Autism and Developmental Disorders

, Volume 42, Issue 6, pp 1146–1148 | Cite as

Cognitive Impairment and Abnormal Behaviour Related to Ring Chromosome 20 Aberration

  • Maximilian Gahr
  • Frank Kerling
  • Andrea Ludolph
  • Paul Plener
Letter to the Editor

Keywords

Aggressive Behaviour Valproic Acid Oxcarbazepine Complex Partial Seizure Mental Impairment 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Atkins, L., Miller, W., & Salam, M. (1972). A ring-20 chromosome. Journal of Medical Genetics, 9, 377–380.PubMedCrossRefGoogle Scholar
  2. Back, E., Vouiculescu, I., Brünger, M., & Wolff, G. (1989). Familial ring (20) chromosome mosaicism. Human Genet, 83, 148–154.CrossRefGoogle Scholar
  3. Borgaonkar, D., Lacassie, Y., & Stoll, C. (1976). Usefulness of chromosome catalog in delineating new syndromes. Birth Defects Original Article Series, 12, 87–95.PubMedGoogle Scholar
  4. Canevini, M., Sgro, V., Zuffardi, O., Canger, R., Carrozzo, R., Rossi, E., et al. (1998). Chromosome 20 ring: A chromosomal disorder associated with a particular electroclinical pattern. Epilepsia, 39, 942–951.PubMedCrossRefGoogle Scholar
  5. Conlin, L., Kramer, W., Hutchinson, A., Li, X., Riethmann, H., Hakonarson, H., et al. (2010). Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. Journal of Medical Genetics, 48, 1–9.Google Scholar
  6. De Grouchy, J., Plachot, M., Sebaoun, M., & Bouchard, R. (1972). Chromosome F en anneau (46, XY, Fr) chez un garcon multimalfomé. Annales de Génétique, 15, 121–126.PubMedGoogle Scholar
  7. Elghezal, H., Hannachi, H., Mougou, S., Kammoun, H., Triki, C., & Saad, A. (2007). Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4eKCNQ2 gene loci. European Journal of Medical Genetics, 50, 441–445.PubMedCrossRefGoogle Scholar
  8. Faed, M., Morton, H., & Robertson, J. (1972). Ring F chromosome mosaicism (46, XY, 20r/46, XY) in an epileptic child without apparent hematological disease. Journal of Medical Genetics, 9, 470–473.PubMedCrossRefGoogle Scholar
  9. Garcia-Cruz, D., Vásquez, A., Perez-Rulfo, D., Dávalos, N., Penaloza, J., Garcia-Ortiz, J., et al. (2000). Ring-20-syndrome and loss of telomeric regions. Annales de Génétique, 43, 113–116.PubMedCrossRefGoogle Scholar
  10. Giardino, D., Vignoli, A., Ballarati, L., Recalcati, M., Russo, S., Camporeale, N., et al. (2010). Genetic investigations on 8 patients affected by ring 20 chromosome syndrome. BMC Medical Genetics, 11, 146.PubMedCrossRefGoogle Scholar
  11. Herrgard, E., Mononen, T., Mervaala, E., Kuusela, L., Aikiä, M., Stenbäck, U., et al. (2007). More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosome. Epilepsy Research, 73, 122–128.PubMedCrossRefGoogle Scholar
  12. Hosain, S. (2009). Ring chromosome 20 epilepsy syndrome. ACNR, 9, 13–16.Google Scholar
  13. Inoue, Y., Fujiwara, T., Matsuda, K., Kubota, H., Tanaka, M., Yagi, K., et al. (1997). Ring chromosome 20 and nonconvulsive status epilepticus. Brain, 120, 939–953.PubMedCrossRefGoogle Scholar
  14. Kobayashi, K., Inagaki, M., Sasaki, M., Sugai, K., Ohta, S., & Hashimoto, T. (1998). Characteristic EEG findings in ring 20 chromose as a diagnostic clue. Electroencephalography and Clinical Neurophysiology, 107, 258–262.PubMedCrossRefGoogle Scholar
  15. Nishiwaki, T., Hirano, M., Kumazawa, M., & Ueno, S. (2005). Mosaicism and phenotype in ring chromosome 20 syndrome. Acta Neurologica Scandinavica, 111, 205–208.PubMedCrossRefGoogle Scholar
  16. Stewart, J., Cavanagh, N., & Hughes, D. (1979). Ring 20 chromosome in a child with seizures, minor anomalies, and retardation. Archives of Disease in Childhood, 54, 477–479.PubMedCrossRefGoogle Scholar
  17. Uchida, I., & Lin, C. (1972). Ring formation of chromosomes Nos. 19 and 20. Cytogenetics, 11, 208–213.PubMedCrossRefGoogle Scholar
  18. Vignoli, A., Canevini, M., Darra, F., La Selva, F., Fiorini, E., Piazzini, A., et al. (2009). Ring chromosome 20 syndrome: A link between epilepsy onset and neuropsychological impairment in three children. Epilepsia, 50, 2420–2427.PubMedCrossRefGoogle Scholar
  19. Ville, D., Kaminska, A., Bahi-Buisson, N., Biraben, A., Plouin, P., Telvi, L., et al. (2006). Early pattern of epilepsy in the ring chromosome 20 syndrome. Epilepsia, 47, 543–549.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Maximilian Gahr
    • 1
  • Frank Kerling
    • 2
  • Andrea Ludolph
    • 3
  • Paul Plener
    • 3
  1. 1.Department of PsychiatryUniversity of UlmUlmGermany
  2. 2.Departement of NeurologyUniversity of UlmUlmGermany
  3. 3.Departement of Child and Adolescent PsychiatryUniversity of UlmUlmGermany

Personalised recommendations