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. 1979 Oct;16(5):389–392. doi: 10.1136/jmg.16.5.389

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

R H Lindenbaum, G Clarke, C Patel, M Moncrieff, J T Hughes
PMCID: PMC1012616  PMID: 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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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