Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. Issue 5 (October 1979)

• Record Type: Journal Article
• Authors: Lindenbaum, R H; Clarke, G; Patel, C; Moncrieff, M; Hughes, J T
• Is Part Of: Journal of medical genetics. Volume 16:Issue 5(1979)
• Page Start: 389
• Page End: 392
• Publication Date: 1979-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.16.5.389
• Languages: English
• ISSNs: 1468-6244

Abstract

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).