Myotonic dystrophy and chromosome translocation segregating in the same family.
We report on a family segregating the myotonic dystrophy (DM) gene and a t(5;8) reciprocal translocation. The DM presented the characteristics typically seen in this disease, i.e. full penetrance, broad expressivity, apparent anticipation in successive generations, presence of a congenital form transmitted by a carrier mother. The family was uninformative for linkage studies with the Lutheran and Secretor loci. The concordance between DM and chromosome translocation in 8 out of 9 individuals at risk was apparently due to chance.
D000328:Adult; D000368:Aged; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014178:Translocation, Genetic