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Research Article
Duchenne muscular dystrophy in a female with a translocation involving Xp21.
  1. N C Nevin,
  2. A E Hughes,
  3. M Calwell,
  4. J H Lim

    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.

    https://doi.org/10.1136/jmg.23.2.171

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