title: Five years experience of predictive testing for myotonic dystrophy using linked DNA markers.
abstract: We report on a 5 year experience in providing presymptomatic and prenatal molecular diagnostic services for myotonic dystrophy, using closely linked markers, representing 235 completed results in 161 families. Only 10 analyses (4.3%) proved uninformative, but a further 5 requests (1.9%) could not be reported because of uncertainty in clinical status. Seven of 81 (8.6%) patients considered to be at low risk on clinical grounds were found to be at high risk of carrying the gene. The importance of interpreting molecular results in conjunction with clinical findings is emphasised by the illustrative examples provided. Careful clinical examination and appropriate investigation remain a cornerstone of diagnosis in myotonic dystrophy and are crucial if errors in assigning genotype status by molecular means are to be minimised.
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: J L
authors.initials: JL
authors.lastname: Floyd
authors.forename: J
authors.initials: J
authors.lastname: Myring
authors.forename: L P
authors.initials: LP
authors.lastname: Lazarou
authors.forename: A L
authors.initials: AL
authors.lastname: Meredith
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D000293:Adolescent; D000328:Adult; D002888:Chromosomes, Human, Pair 19; D004247:DNA / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers; D004247:DNA