Skip to main content
Log in

Ring 11 chromosome (46,XX,r11(p15q25))

  • Clinical Case Reports
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

A girl has a stable ring chromosome 11, which does not reveal loss of any chromosomal material. She demonstrates small stature, mild retardation, behavior problems, mild abnormal EEG, prominent sole furrows, increased deep tendon reflexes and hypothyroidism; this latter condition may have contributed to her retardation.

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

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Fried, K., Rosenblatt, M., Mundel, A., Krikler, R.: Mental retardation and congenital malformations associated with a ring chromosome 6. Clin. Genet. 7, 192–196 (1975)

    Google Scholar 

  • Harnden, D. G., Benn, P. A., Oxford, J. M., Taylor, A. M. R., Webb, T. P.: Cytogenetically marked clones in human fibroblasts cultured from normal subjects. Somatic Cell Genet. 2, 55–62 (1976)

    Google Scholar 

  • Hoehn, H., Bryant, E. M., Au, K., Norwood, T. H., Boman, H., Martin, G. M.: Variegated translocation mosaicism in human skin fibroblast cultures. Cytogenet. Cell Genet. 15, 282–298 (1975)

    Google Scholar 

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

    Google Scholar 

  • Littlefield, L. G., Mailhes, J. B.: Observations of de novo clones of cytogenetically aberrant cells in primary fibroblast cell strains from phenotypically normal women. Am. J. Hum. Genet. 27, 190–197 (1975)

    Google Scholar 

  • Moore, C. M., Heller, R. H., Thomas, G. H.: Developmental abnormalities associated with a ring chromosome 6. J. Med. Genet. 10, 299–303 (1973)

    Google Scholar 

  • Pfeiffer, R. A., Lenard, H. G.: Ringchromosom 8 (46,XY,8r) bei einem debilen Jungen Klin. Pädiat. 185, 187–191 (1973)

    Google Scholar 

  • Salamanca-Gonez, F., Nava, S., Armendares, S.: Ring chromosome 6 in a malformed boy. Clin. Genet. 8, 370–375 (1975)

    Google Scholar 

  • Van den Berghe, H., Fryns, J. P., Cassiman, J. J., David, G.: Chromosome 6 en anneau caryotype 46,XY,r(6)/45,XY,-6. Ann. Genet. 17, 29–35 (1974)

    Google Scholar 

  • Verma, R. S., Lubs, H. A.: A simple R banding technic. Am. J. Hum. Genet. 27, 110–117 (1975)

    Google Scholar 

  • Zackai, E. H., Breg, W. R.: Ring chromosome 7 with variable phenotypic expression. Cytogenet. Cell Genet. 12, 40–48 (1973)

    Google Scholar 

  • Zdansky, R., Andrle, M., Bühler, E., Tsuchimoto, J., Mayr, W. R., Rett, A.: Irregular phenotypic expression of ring chromosomes. Humangenetik 26, 193–198 (1975)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Valente, M., Muller, H. & Sparkes, R.S. Ring 11 chromosome (46,XX,r11(p15q25)). Hum Genet 36, 345–350 (1977). https://doi.org/10.1007/BF00446287

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00446287

Keywords

Navigation