Humangenetik

, Volume 12, Issue 1, pp 64–66

A strongly fluorescing abnormal chromosome in a malformed child

  • Erica M. Bühler
  • Hansjakob Müller
  • Gerhard R. Stalder
  • Egmont Werder
Original Investigations

Summary

The case of a sexchromatin negative “girl” with multiple malformations is presented. A small metacentric chromosome was found to replace her second X chromosome, half of which was strongly fluorescing after staining with Quinacrinedihydrochloride, and late replicating after labelling with tritiated thymidine. The chromosome was interpreted as a translocation chromosome between the long arms of a Y and a partially trisomic autosome.

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References

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Copyright information

© Springer-Verlag 1971

Authors and Affiliations

  • Erica M. Bühler
    • 1
  • Hansjakob Müller
    • 1
  • Gerhard R. Stalder
    • 1
  • Egmont Werder
    • 2
  1. 1.Department of Genetics, University of BaselBasler KinderspitalBaselSwitzerland
  2. 2.Ostschweizerisches Säuglings- und KinderspitalSt. GallenSwitzerland

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