Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy.
作者信息
Speer M C, Pericak-Vance M A, Yamaoka L H, Koh J, Hung W Y, Gaskell P C, Vance J M, Bartlett R J, Roses A D
机构信息
Division of Neurology, Duke University Medical Center, Durham, North Carolina.
出版信息
Prenat Diagn. 1988 Jul;8(6):427-37. doi: 10.1002/pd.1970080607.
PMID:3211845
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.
摘要
Zotero 插件