Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Cytogenetic studies in 12 patients with Itai-Itai disease


Among 12 Itai-Itai disease patients examined, 8 patients showed a remarkably high frequency of chromatid aberrations, whereas the other 4 patients showed a much lower frequency of such aberrations, although a significant number of stable type aberrations was observed also in the latter patients. The frequencies of aneuploid cells of all 12 patients were significantly higher than those of the controls. The abnormalities were found in 50-hour and 72-hour cultures, from which it can be concluded that the aberrations occurred in the blood stem cell of the patients. In addition to these structural and numerical aberrations, satellite associations of the D and G group chromosomes were often observed.

This is a preview of subscription content, log in to check access.


  1. Bender, M. A., Gooch, P. C.: Persistent chromosome aberrations in irradiated human subjects. Radiat. Res. 16, 44 (1962)

  2. Buckton, K. E., Pike, M. C.: Chromosome investigations on lymphocytes from irradiated patients: effect of time in culture. Nature (Lond.) 202, 714 (1964)

  3. German, J., Archibald, R., Bloom, D.: Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 148, 506–507 (1965)

  4. German, J., Crippa, L. P.: Chromosomal breakage in diploid cell lines from Bloom's syndrome and Fanconi's anemia. Ann. Genet. 9, 143–154 (1965)

  5. Ishihara, T., Kumatori, T.: Chromosome aberrations in human leucocytes irradiated in vivo and in vitro. Acta haemat. jap. 28, 291 (1965)

  6. Ishizaki, A.: On Itai-Itai (Ouch-Ouch) disease. Asian med. J. 14, 421–436 (1971)

  7. Shiraishi, Y., Kurahashi, H., Yosida, T. H.: Chromosomal aberrations in cultured human leucocytes induced by Cadmium sulfide. Proc. Jap. Acad. 48, 133–137 (1972)

  8. Shiraishi, Y., Yosida, T. H.: Chromosomal abnormalities in cultured leucocytes cells from Itai-Itai disease patients. Proc. Jap. Acad. 48, 248–251 (1972)

  9. Wahrman, J., Atidia, J., Goiten, R., Cohen, T.: Pericentric inversions of chromosome 9 in two families. Cytogenetics 11, 132–144 (1972)

Download references

Author information

Additional information

This work was supported in part by grants from the Ministry of Education of Japan (No. 854138)

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Shiraishi, Y. Cytogenetic studies in 12 patients with Itai-Itai disease. Hum Genet 27, 31–44 (1975).

Download citation


  • Stem Cell
  • Internal Medicine
  • Metabolic Disease
  • Disease Patient
  • Blood Stem Cell