Prenatal diagnosis for the unstable CTG repeat sequence in myotonic dystrophy: a retrospective study in a French family.
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.
Lucotte
G
G
Centre régional de Neurogénétique, CHU de Reims, France.
Berriche
S
S
David
F
F
Mariotti
M
M
Turpin
J C
JC
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
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D015342:DNA Probes; D005819:Genetic Markers