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  • Title: Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
    Author: Lindenbaum RH, Clarke G, Patel C, Moncrieff M, Hughes JT.
    Journal: J Med Genet; 1979 Oct; 16(5):389-92. PubMed ID: 513085.
    Abstract:
    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).
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