Prenatal diagnosis in a female carrying a deletion close to the Duchenne locus.
Family studies including the proband are usually needed before a prenatal diagnosis may be performed for Duchenne muscular dystrophy. We report here on prenatal diagnosis in a family where the solitary index case was dead, and where the consultand and her mother were assumed to be carriers by independent evidence. DNA analysis revealed that both the consultand and her mother had an X chromosome deleted for DNA material in the Xp21 region. The female fetus also carried the deleted X chromosome.
Børresen
A L
AL
Department of Medical Genetics, City of Oslo, Norway.
Boman
H
H
Møller
P
P
Berg
K
K
D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening / Q000379:methods; D008040:Genetic Linkage; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D014960:X Chromosome
D005819:Genetic Markers; D004247:DNA