Original Investigations

Humangenetik

, Volume 12, Issue 1, pp 64-66

First online:

A strongly fluorescing abnormal chromosome in a malformed child

  • Erica M. BühlerAffiliated withDepartment of Genetics, University of Basel, Basler Kinderspital
  • , Hansjakob MüllerAffiliated withDepartment of Genetics, University of Basel, Basler Kinderspital
  • , Gerhard R. StalderAffiliated withDepartment of Genetics, University of Basel, Basler Kinderspital
  • , Egmont WerderAffiliated withOstschweizerisches Säuglings- und Kinderspital

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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.