Skip to main content
SpringerLink
Log in

A case of translocation D-, t(lp+)

  • Original Investigations
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

A severely retarded, dystrophic, hypotonic boy with joint hyperflexibility, jaw anomalies, cerebral hypoplasia and failure to thrive is reported. He died at the age of 8 months. Clinical and biochemical investigation revealed predominantly normal values. An unusual type of palmar crease was found. Chromosomal studies showed a translocation, probably a mosaic with normal cells. The parents are chromosomally normal.

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

  • Clendenin, T. M., and K. Benirschke: Chromosome studies on spontaneous abortions. Lab. Invest. 12, 1281 (1962).

    Google Scholar 

  • Kontras, S. B., G. J. Currier, R. F. Cooper, and J. P. Ambuel: Maternal transmission of a 21/1 translocation associated with Down's syndrome. J. Pediat. 69, 635 (1966).

    Google Scholar 

  • Macek, M.: A simple micromethod for chromosomal analysis from capillary blood. Folia biol. (Praha) 11, 299 (1965).

    Google Scholar 

  • Maganias, N. H., L. Archambault, K. L. Becker, and J. L. Winnacker: A 1/G translocation in a member of a kindred with a marker chromosome. Arch. intern. Med. 119, 297 (1967).

    Google Scholar 

  • Mercer, R. D., and G. Darakjan: Apparent translocation between chromosome 2 and an acrocentric in group 13–15. Lancet 1962 II, 784.

  • Merrington, M., and L. S. Penrose: Distances which involve satellited chromosomes in metaphase preparations. Ann. hum. Genet. 27, 257 (1964).

    Google Scholar 

  • Ruess, A. L., S. Pruzansky, E. F. Lis, and K. Pätau: The oral-facial-digital syndrome; a multiple congenital condition of females with associated chromosomal abnormalities. Pediatrics 29, 985 (1962).

    Google Scholar 

  • Shaw, M. W.: Association of acrocentric chromosomes with the centromere region of chromosome No. 1. Lancet 1961 I, 1351.

  • Standardisation in human cytogenetics, Birth Defects, Original Article Series, National Foundation, 1966.

Download references

Author information

Authors and Affiliations

  1. Institute of Pediatric Research, Faculty of Medicine, Brno, Czechoslovakia

    Dušan Soudek, Zdenek Brunecký & Renata Laxová

  2. 1st Pediatric Clinic, Faculty of Medicine, Brno, Czechoslovakia

    Dušan Soudek, Zdenek Brunecký & Renata Laxová

  3. Department of Anatomy Health Sciences Centre, University of Western Ontario, London, Ontario, Canada

    Dušan Soudek

  4. Kennedy-Galton Centre, Harpebury Hospital, St. Albans, Herts, England

    Renata Laxová

Authors
  1. Dušan Soudek
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Zdenek Brunecký
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Renata Laxová
    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

Soudek, D., Brunecký, Z. & Laxová, R. A case of translocation D-, t(lp+). Hum Genet 7, 5–8 (1969). https://doi.org/10.1007/BF00278687

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00278687

Keywords

Search

Navigation