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 language | English (US) |
|---|---|
| Pages (from-to) | 427-437 |
| Number of pages | 11 |
| Journal | Prenatal Diagnosis |
| Volume | 8 |
| Issue number | 6 |
| DOIs | |
| State | Published - 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