Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Marcy C. Speer, Margaret A. Pericak‐Vance, Larry H. Yamaoka, James Koh, Wu‐Yen ‐Y Hung, Peter C. Gaskell, Jeffery M. Vance, Richard J. Bartlett, Allen D. Roses

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.

Original languageEnglish (US)
Pages (from-to)427-437
Number of pages11
JournalPrenatal Diagnosis
Volume8
Issue number6
DOIs
StatePublished - Jul 1988

Keywords

  • Carrier testing
  • Deletion
  • Duchenne muscular dystrophy
  • Prenatal diagnosis
  • RFLP

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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    Speer, M. C., Pericak‐Vance, M. A., Yamaoka, L. H., Koh, J., Hung, WY. Y., Gaskell, P. C., Vance, J. M., Bartlett, R. J., & Roses, A. D. (1988). Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy. Prenatal Diagnosis, 8(6), 427-437. https://doi.org/10.1002/pd.1970080607