Article Text

Download PDFPDF
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.

    Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.