Humangenetik

, Volume 12, Issue 1, pp 64–66

A strongly fluorescing abnormal chromosome in a malformed child

Authors

  • Erica M. Bühler
    • Department of Genetics, University of BaselBasler Kinderspital
  • Hansjakob Müller
    • Department of Genetics, University of BaselBasler Kinderspital
  • Gerhard R. Stalder
    • Department of Genetics, University of BaselBasler Kinderspital
  • Egmont Werder
    • Ostschweizerisches Säuglings- und Kinderspital
Original Investigations

DOI: 10.1007/BF00291035

Cite this article as:
Bühler, E.M., Müller, H., Stalder, G.R. et al. Hum Genet (1971) 12: 64. doi:10.1007/BF00291035

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.

Copyright information

© Springer-Verlag 1971