Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1979 Oct;16(5):389-92.
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

Case Reports

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

R H Lindenbaum et al. J Med Genet. 1979 Oct.

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).

PubMed Disclaimer

Similar articles

Cited by

References

    1. J Med Genet. 1965 Mar;2(1):38-46 - PubMed
    1. Am J Hum Genet. 1959 Dec;11:360-79 - PubMed
    1. Am J Hum Genet. 1962 Jun;14:135-48 - PubMed
    1. Nature. 1961 Apr 22;190:372-3 - PubMed
    1. Ann Hum Genet. 1956 Jul;21(1):40-58 - PubMed

Publication types

LinkOut - more resources