title: Prenatal diagnosis for the unstable CTG repeat sequence in myotonic dystrophy: a retrospective study in a French family.
abstract: The results of DNA analysis for the unstable CTG repeat are reported in a french family of myotonic dystrophy. This retrospective study confirms results obtained previously with a linked DNA marker, using the CTG repeat DNA sequence in the same family. The demonstrated possibility of predicting phenotype as well as genotype in prenatal diagnosis is important for such a disorder, were subjects may be severely affected.
authors.affiliation: Centre régional de Neurogénétique, CHU de Reims, France.
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
authors.forename: S
authors.initials: S
authors.lastname: Berriche
authors.forename: F
authors.initials: F
authors.lastname: David
authors.forename: M
authors.initials: M
authors.lastname: Mariotti
authors.forename: J C
authors.initials: JC
authors.lastname: Turpin
mesh_terms: D000328:Adult; D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000235:genetics; D015148:Cardiotocography; D015193:Chorionic Villi Sampling; D015342:DNA Probes; D005260:Female; D005817:Genetic Counseling; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies
chemical_list: D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D015342:DNA Probes; D005819:Genetic Markers