Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
A unique combination of a Duchenne-like muscular dystrophy in a girl with a translocation-inversion rearrangement involving an X chromosome and a no 1 chromosome appeared as a result of both gene mutation and chromosome mutation in the mother. The X-autosome rearrangement would permit full expression of an X-linked recessive gene, such as that for Duchenne muscular dystrophy, in a female, and this would satisfactorily explain the characteristic Duchenne-like course of our patient's illness. The simultaneous de novo appearance of the Duchenne mutation and the X;1 rearrange suggests possible sites for the Duchenne locus on the X chromosome short arm (at Xp1106 or Xp2107).
D002648:Child; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007621:Karyotyping; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome