Duchenne muscular dystrophy in a female with a translocation involving Xp21.
A female with Duchenne muscular dystrophy, diagnosed at the age of 3 years 8 months, is reported. Chromosome studies revealed an X;autosome reciprocal translocation t(X;5) (p21.2;q31.2). With the BrdU-Hoechst 33258-Giemsa technique, there was nonrandom preferential inactivation of the normal X. Our patient is the ninth reported case of Duchenne muscular dystrophy associated with an X;autosome translocation. In all cases the breakpoint in the X chromosome is in band p21 at or near the site of the DMD gene.
N C
NC
Nevin
A E
AE
Hughes
M
M
Calwell
J H
JH
Lim
D002871:Chromosome Banding; D002905:Chromosomes, Human, 4-5; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009136:Muscular Dystrophies / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome