Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents

Clin Genet. 1983 Sep;24(3):156-8. doi: 10.1111/j.1399-0004.1983.tb02232.x.

Abstract

Three achondroplastic sisters born to normal parents are reported. This report constitutes an unique example of germinal mosaicism in the human.

Publication types

  • Case Reports

MeSH terms

  • Achondroplasia / genetics*
  • Adolescent
  • Adult
  • Child, Preschool
  • Female
  • Germ Cells / ultrastructure
  • Humans
  • Male
  • Middle Aged
  • Mosaicism*
  • Mutation