A strongly fluorescing abnormal chromosome in a malformed child |
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| Authors: | Erica M. Bühler Hansjakob Müller Gerhard R. Stalder Egmont Werder |
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| Affiliation: | (1) Department of Genetics, University of Basel, Basler Kinderspital, Basel, Switzerland;(2) Ostschweizerisches Säuglings- und Kinderspital, St. Gallen, Switzerland |
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| Abstract: | 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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