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Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy
Author(s) -
Speer Marcy C.,
PericakVance Margaret A.,
Yamaoka Larry H.,
Koh James,
Hung WuYen,
Gaskell Peter C.,
Vance Jeffery M.,
Bartlett Richard J.,
Roses Allen D.
Publication year - 1988
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970080607
Subject(s) - duchenne muscular dystrophy , prenatal diagnosis , muscular dystrophy , genetic counseling , medicine , dna testing , genetics , carrier testing , pediatrics , biology , pregnancy , fetus
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.