Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome |
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| Authors: | Ch Verellen-Dumoulin M Freund R De Meyer Ch Laterre J Frédéric M W Thompson V D Markovic R G Worton |
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| Institution: | (1) Laboratory of Teratology and Medical Genetics, University of Louvain, Brussels, Belgium;(2) Department of Neurology, University of Louvain, Brussels, Belgium;(3) Department of Genetics, University of Liège, Belgium;(4) Department of Genetics, Surrey Place Centre, Toronto, Canada;(5) Department of Genetics, Hospital for Sick Children, 555 University Avenue, M5G 1X8 Toronto, Canada;(6) Center of Human Genetics, 53 Avenue Emmanuel Mounier, 1200 Brussels, Belgium |
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| Abstract: | Summary A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both 3H] thymidine autoradiography and the BrdU-Hoechst 33258-Giemsa technique, lymphocytes and fibroblasts were found to show a preferential inactivation of the normal X suggesting the presence of a single mutant gene on the translocated X. This patient is one of seven reported cases of an X-linked muscular dystrophy associated with an X-autosome translocation. In all seven cases the exchange point in the X chromosome is in band p21 at or near the site of the Duchenne gene. |
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