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

A case of 9p- syndrome

  • 41 Accesses

  • 11 Citations


An 8-month-old female child with the 9p- karyotype: 46,XX,del(9) (p22) is presented, being the first case from among Oriental people. She has many clinical featues similar to those described in Caucasian cases.

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


  1. Alfi, O., Donnell, G. N., Crandall, B. F., Drencsenyi, A., Menon, R.: Deletion of the short arm of chromosome No. 9 (46,9p-): A new deletion syndrome. Ann. Génét. 16, 17–22 (1973)

  2. Alfi, O. S., Donnell, G. N., Alderdice, P. W., Derencsenyi, A.: The 9p- syndrome. Ann. Génét. 19, 11–16 (1976)

  3. Fraisse, J., Lauras, B., Ooghe, M. J., Freycon, F., Rethoré, M. O.: A propos d'un cas de chromosome 9 en anneau. Identification par dénaturation ménagée. Ann. Génét. 17, 175–180 (1974)

  4. Jacobsen, P., Mikkelsen, M., Rosleff, F.: A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl. Clin. Genet. 4, 434–441 (1973)

  5. Kistenmacher, M. L., Punett, H. H.: Comparative behavior of ring chromosomes. Amer. J. hum. Genet. 22, 304–318 (1970)

  6. Kistenmacher, M. L., Punett, H. H., Aronson, M., Miller, R. C., Greene, A. E., Coriell, L. L.: A ring 9 chromosome. Repository identification No. GM-166. Cytogenet. Cell Genet. 15, 122–123 (1975)

  7. Nakajima, S., Yanagisawa, M., Kamoshita, S., Nakagome, Y.: Mental retardation and congenital malformations associated with a ring chromosome 9. Hum. Genet. 32, 289–293 (1976)

  8. Orye, E., Verhaaren, H., van den Bogaert-van Haesvelde, A. M.: The 9p- deletion syndrome. Report of a patient with a 46,XX,9p- constitution due to a paternal t(9p-;15q+) translocation. Clin. Genet. 8, 349–357 (1975)

  9. Serville, F., Allain, D., Broustet, A., Martin, C., Gachet, M., Babin, J. P., Cenraud, J.: Délétion partielle du bras court du chromosome 9. Ann. Génét. 19, 143–147 (1976)

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Kuroki, Y., Yokota, S., Nakai, H. et al. A case of 9p- syndrome. Hum Genet 38, 107–111 (1977). https://doi.org/10.1007/BF00295813

Download citation


  • Internal Medicine
  • Metabolic Disease
  • Female Child
  • Oriental People
  • Caucasian Case