Improvement of prenatal diagnosis of Wilson disease using microsatellite markers

Prenat Diagn. 1994 Oct;14(10):999-1002. doi: 10.1002/pd.1970141018.


This paper describes a case of prenatal diagnosis for Wilson disease (WD) carried out in an at-risk couple of Sardinian descent, following non-directive genetic counselling. Diagnosis was obtained by using eight microsatellites located within or flanking the WD locus, six of which were 100 per cent and two 50 per cent informative. The use of several markers may limit the occurrence of misdiagnosis resulting from recombination or instability of repeats.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • DNA, Satellite / analysis*
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / epidemiology
  • Fetal Diseases / genetics
  • Genetic Linkage
  • Haplotypes
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / epidemiology
  • Hepatolenticular Degeneration / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Italy / epidemiology
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis*


  • DNA, Satellite