Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism

J Med Genet. 2001 May;38(5):E15. doi: 10.1136/jmg.38.5.e15.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Age of Onset
  • Alleles*
  • Cells, Cultured
  • Cerebroside-Sulfatase / genetics*
  • Cerebroside-Sulfatase / metabolism
  • Child
  • Chimera / genetics*
  • Chromosomes, Human, Pair 22 / genetics
  • Female
  • Fibroblasts
  • Heterozygote
  • Humans
  • Karyotyping
  • Leukocytes
  • Leukodystrophy, Metachromatic / enzymology
  • Leukodystrophy, Metachromatic / genetics*
  • Leukodystrophy, Metachromatic / pathology
  • Male
  • Microsatellite Repeats / genetics
  • Mutation, Missense / genetics*
  • Nuclear Family
  • Pedigree
  • Spermatozoa / physiology*

Substances

  • Cerebroside-Sulfatase