Myotonic dystrophy and chromosome translocation segregating in the same family

G. Neri, E. Bertini, A. Serra, B. Tedeschi, M. Campana, P. Tonali, D. De Mercurio, C. Angelini

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)47-56
Number of pages10
JournalJournal of Neurogenetics
Volume4
Issue number1
DOIs
Publication statusPublished - 1987

Keywords

  • Chromosome translocation
  • Myotonic dystrophy
  • Recurrent abortion

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience
  • Genetics
  • Developmental Biology
  • Neuroscience(all)

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