DUCHENNE MUSCULAR-DYSTROPHY (DMD) IN A FEMALE WITH AN X-AUTOSOME TRANSLOCATION - FURTHER EVIDENCE THAT THE DMD LOCUS IS AT XP21
- 1 January 1981
- journal article
- research article
- Vol. 33 (4) , 513-518
Abstract
Duchenne muscular dystrophy in a female with a de novo t(X;5)(p21;q35) translocation is described. The similarities between this patient and 4 previously reported females with Duchenne muscular dystrophy are discussed. The locus for Duchenne muscular dystrophy is at Xp21; this site may be particularly susceptible both to chromosome breakage and exchange and to gene mutation.This publication has 4 references indexed in Scilit:
- Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.Journal of Medical Genetics, 1980
- Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.Journal of Medical Genetics, 1979
- ANALYSIS OF DEOXYRIBONUCLEIC-ACID REPLICATION IN HUMAN X CHROMOSOMES BY FLUORESCENCE MICROSCOPY1976