Expression of An X-linked Muscular-dystrophy in a Female Due To Translocation Involving Xp21 and Non-random Inactivation of the Normal X-chromosome
(1984) Human Genetics — Vol. 67, n° 1, p. 115-119 (1984)
Files
pdfdocument.pdf
Restricted Access - Adobe PDF
- 905.8 KB
Details
- Authors
- Abstract
- 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.
- Affiliations
Citations
Dumoulin, C., Freund, M., Demeyer, R., Laterre, C., Frederic, J., Thompson, MW., Markovic, VD., & Worton, RG. (1984). Expression of An X-linked Muscular-dystrophy in a Female Due To Translocation Involving Xp21 and Non-random Inactivation of the Normal X-chromosome. Human Genetics, 67(1), 115-119. https://doi.org/10.1007/BF00270570 (Original work published 1984)