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J Med Genet. 1986 Apr;23(2):171-3.

Duchenne muscular dystrophy in a female with a translocation involving Xp21.

Abstract

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.

PMID:
3712394
PMCID:
PMC1049575
[Indexed for MEDLINE]
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