Skip to main content
Log in

Down's syndrome

The Possibility of a pathogenetic segment on chromosome No. 21

  • Clinical Case Reports
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

This paper contains a brief survey of 12 patients with a G/G translocation en tandem and it is suggested, that trisomy of the band 21q22 might be pathogenetic in Down's syndrome.

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

  • Bartsch-Sandhoff, M., Schade, H.: Zwei subterminale Heterochromatinregionen bei einer seltenen Form einer 21/21-Translokation. Humangenetik 18, 329–336 (1973)

    CAS  PubMed  Google Scholar 

  • Cohen, M. M., Davidson, R. G.: Down's syndrome associated with a familial (21q-;22q+) translocation. Cytogenetics 6, 321–330 (1967)

    Article  CAS  Google Scholar 

  • Garson, O. M., Baikie, A. G., Pitt, D. B., Newmann N. M.: Down's syndrome with t translocation-en-tandem: a report of two unrelated cases. Aust. paediat. J. 6, 53–56 (1970)

    CAS  PubMed  Google Scholar 

  • Gustavson, K.-H.: Down's syndrome: A clinical and cytogenetical investigation. Uppsala: Almqvist & Wiksell 1964

    Google Scholar 

  • Kadotani, T., Ohama, K., Takahara, H., Nagai, I., Shimizu, B., Makino, S.: A case of Down's syndrome associated with G/G translocation. Proc. Jap. Acad. 46, 858–862 (1970)

    Article  Google Scholar 

  • Lejeune, J., Berger, R., Vidal, O. R., Rethoré, M.-O.: Un cas de translocation G∼G en tandem. Ann. Génét. 8, 60–62 (1965)

    CAS  PubMed  Google Scholar 

  • Richards, B. W., Stewart, A., Sylvester, P. E.: Reciprocal translocation and mosaicism in a mongol. J. ment. Defic. Res. 9, 118–124 (1965)

    CAS  PubMed  Google Scholar 

  • Sachdeva, S., Wodnicki, J., Smith, G. F.: Fluorescent chromosomes of a tandem translocation in a mongol patient. J. ment. Defic. Res. 15, 181–184 (1971)

    CAS  PubMed  Google Scholar 

  • Soudek, D., Laxová, R., Adámek, R.: Development of translocation 21/22. Lancet 1966 II, 336–337

    Article  Google Scholar 

  • Vogel, W.: Identification of G-group chromosomes involved in a G/G tandem-translocation by the Giemsa-band technique. Humangenetik 14, 255–256 (1972)

    CAS  PubMed  Google Scholar 

  • Warkany, J., Soukup, S. W.: A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism). J. Pediat. 62, 890–894 (1963)

    Article  CAS  Google Scholar 

  • Zellweger, H., Mikamo, K., Abbo, G.: An unusual translocation in a case of mongolism. J. Pediat. 62, 225–229 (1963)

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

Supported in part by Grant No. B. 885 from the P. Carl Petersens Foundation

Rights and permissions

Reprints and permissions

About this article

Cite this article

Niebuhr, E. Down's syndrome. Hum Genet 21, 99–101 (1974). https://doi.org/10.1007/BF00278575

Download citation

  • Received:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00278575

Keywords

Navigation