Humangenetik

, Volume 7, Issue 1, pp 5–8 | Cite as

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

  • Dušan Soudek
  • Zdenek Brunecký
  • Renata Laxová
Original Investigations
Received:

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.

Keywords

Internal Medicine Metabolic Disease Normal Cell Biochemical Investigation Chromosomal Study 
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References

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Copyright information

© Springer-Verlag 1969

Authors and Affiliations

  • Dušan Soudek
    • 1
    • 2
    • 3
  • Zdenek Brunecký
    • 1
    • 2
  • Renata Laxová
    • 1
    • 2
    • 4
  1. 1.Institute of Pediatric ResearchFaculty of MedicineBrnoCzechoslovakia
  2. 2.1st Pediatric ClinicFaculty of MedicineBrnoCzechoslovakia
  3. 3.Department of Anatomy Health Sciences CentreUniversity of Western OntarioLondonCanada
  4. 4.Kennedy-Galton CentreHarpebury HospitalEngland

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