Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy.
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.
Speer
M C
MC
Division of Neurology, Duke University Medical Center, Durham, North Carolina.
Pericak-Vance
M A
MA
Yamaoka
L H
LH
Koh
J
J
Hung
W Y
WY
Gaskell
P C
PC
Vance
J M
JM
Bartlett
R J
RJ
Roses
A D
AD
D002872:Chromosome Deletion; D002875:Chromosomes / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis