Skip to main content
SpringerLink
Log in

A case of D13 ring chromosome

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

Summary

A case of D ring chromosome identified with trypsin banding as a 13 with loss of the bands p12 and q34 is reported. The clinical features characteristically associated with the loss of these specific segments were present.

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Fitzgerald, P. H.: Ring chromosome 13 and haptoglobin heterozygosity. Clin. Genet. 4, 25–27 (1973)

    PubMed  Google Scholar 

  • Fryns, J. P., Deroover, J., van den Berghe, H., Cassiman, J. J., Goffaux, P., Lebas, E.: Malformative syndrome with ring chromosome 13. Humangenetik 24, 235–240 (1974)

    PubMed  Google Scholar 

  • Giraud, F., Emberger, J. M., Pinsard, N., Mattei, J. F., Mattei, M. G.: Le syndrome du chromosome 13 en anneau. Pediatrie 4, 339–349 (1975)

    Google Scholar 

  • Hoo, J. J., Obermann, U., Cramer, H.: The behavior of ring chromosome 13. Humangenetik 24, 161–171 (1974)

    PubMed  Google Scholar 

  • Magenis, R. E., Wyandt, H. E., Overton, K. M., Mcfarlane, J.: Parental origin of a ring 13 chromosome in a female with multiple anomalies. Hum. Genet. 33, 181–186 (1976)

    Article  PubMed  Google Scholar 

  • McCandless, A., Walker, S.: D13 ring chromosome syndrome. Arch. Dis. Child. 51, 449–453 (1976)

    PubMed  Google Scholar 

  • Niebuhr, E., Ottosen, J.: Ring chromosome D (13) associated with multiple congenital malformations. Ann. Genet. (Paris) 16, 157–166 (1973)

    Google Scholar 

  • Noel, B., Quack, B., Rethoré, M. O.: Partial deletions and trisomies of chromosome 13: Mapping of bands associated with particular malformations. Clin. Genet. 9, 593–602 (1976)

    PubMed  Google Scholar 

  • Paris Conference (1971): Standardization in human cytogenetics. National Foundation. Birth Defects 11 (9) [Suppl.] (1975)

  • Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971–972

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. II. Pediatric Clinic, University of Cagliari, Via Porcell 1, I-09100, Cagliari, Sardinia, Italy

    P. Cossu, G. Diana & A. Cao

  2. Institute of Genetics, University of Cagliari, Sardinia, Italy

    M. Mameli, S. Cardia & A. Milia

  3. Institute of Anthropology, University of Cagliari, Sardinia, Italy

    G. Floris

Authors
  1. P. Cossu
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G. Diana
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. Mameli
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. Cardia
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. A. Milia
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. G. Floris
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. A. Cao
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Cossu, P., Diana, G., Mameli, M. et al. A case of D13 ring chromosome. Hum Genet 46, 111–114 (1979). https://doi.org/10.1007/BF00278909

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00278909

Keywords

Search

Navigation