Heterozygous expression in 3-M slender-boned nanism

Hum Genet. 1979 Nov;52(2):221-6. doi: 10.1007/BF00271577.

Abstract

A 15-year-old girl affected by autosomal recessive 3-M slender boned nanism (3-MSBN) was studied. The clinically normal parents, two other obligate and two probable heterozygotes for the 3-MSBN gene from an unrelated family were radiologically investigated. All except one probably heterozygote showed mild features of the 3-MSBN, mainly bone slenderness and prominent talus. These findings are interpreted as demonstrative of the heterozygotic expression of the 3-MSBN gene.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Dwarfism / diagnostic imaging
  • Dwarfism / genetics*
  • Female
  • Genetic Carrier Screening*
  • Humans
  • Radiography