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Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy |
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| Authors: | Marcy C. Speer Margaret A. Pericak-Vance Larry H. Yamaoka James Koh Wu-Yen Hung Peter C. Gaskell Jr. Jeffery M. Vance Richard J. Bartlett Allen D. Roses |
| Affiliation: | Division of Neurology, Box M2900, Duke University Medical Center, Durhaà, North Carolina, U.S.A. |
| 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. |
| Keywords: | Duchenne muscular dystrophy Deletion RFLP Carrier testing Prenatal diagnosis |