Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.
A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t(X;6)(p21;q21) is reported. Four other previously described (X;A) translocations associated with DMD share with the present case a breakpoint at Xp21. The extremely low probability of five independent (X;A) translocations having a breakpoint at Xp21 points to a non-rand association of this site with the DMD phenotype. A DMD locus at Xp21 could be damaged by the translocation, giving rise to Duchenne muscular dystrophy. Alternatively, a pre-existing DMD gene could weaken the chromosome, favouring breaks at Xp21.
D002648:Child; D002871:Chromosome Banding; D002877:Chromosomes, Human / Q000648:ultrastructure; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007621:Karyotyping; D009136:Muscular Dystrophies / Q000235:genetics*; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome