A strongly fluorescing abnormal chromosome in a malformed child
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- Bühler, E.M., Müller, H., Stalder, G.R. et al. Hum Genet (1971) 12: 64. doi:10.1007/BF00291035
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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.