Familial inheritance of a DXS164 deletion mutation from a heterozygous female.

Journal Article (Journal Article)

Restriction-fragment-length-polymorphism analysis was used to examine a female who is segregating for Duchenne muscular dystrophy (DMD) and a deletion of the DXS164 region of the X chromosome. The segregating female has no prior family history of DMD, and she has two copies of the DXS164 region in her peripheral blood lymphocytes. The following two hypotheses are proposed to explain the coincidence of the DMD phenotype and deletion of the DXS164 region in her offspring: (1) she may be a gonadal mosaic for cells with two normal X chromosomes and cells with one normal X chromosome and an X chromosome with a deletion of the DXS164 region; and (2) she may carry a familial X;autosome translocation in which the DXS164 region is deleted from one X chromosome and translocated to an autosome. The segregation of DMD and the DXS164 deletion in this family illustrates the importance of extended pedigree analysis when DXS164 deletions are used to identify female carriers of the DMD gene.

Full Text

Duke Authors

Cited Authors

  • Lanman, JT; Pericak-Vance, MA; Bartlett, RJ; Chen, JC; Yamaoka, L; Koh, J; Speer, MC; Hung, WY; Roses, AD

Published Date

  • August 1987

Published In

Volume / Issue

  • 41 / 2

Start / End Page

  • 138 - 144

PubMed ID

  • 2887110

Pubmed Central ID

  • PMC1684218

International Standard Serial Number (ISSN)

  • 0002-9297


  • eng

Conference Location

  • United States