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PMID: 6745920 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

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 ·Vol. 67 ·No. 1 ·1984-00-00 ·Pages 115-9

Verellen-Dumoulin C, Freund M, De Meyer R, Laterre C, Frédéric J, Thompson MW, Markovic VD, Worton RG

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.

MeSH Terms
Adult Chromosome Banding Dosage Compensation, Genetic Female Humans Karyotyping Muscular Dystrophies/genetics Translocation, Genetic X Chromosome
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Verellen-Dumoulin C
Freund M
De Meyer R
Laterre C
Frédéric J
Thompson M W
Markovic V D
Worton R G
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00270570
Published
1984-00-00
Pages
115-9
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00270570 View journal details
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