Brachydactyly type C gene maps to human chromsome 12q24

Genomics. 1996 Nov 15;38(1):45-50. doi: 10.1006/geno.1996.0590.

Abstract

Brachydactyly type C is an autosomal dominant disorder characterized by abnormal segmentation of the index and middle fingers segregating with a high degree of variable expression in members of the same family. We have followed up and studied members of the large kindred segregating with the brachydactyly type C phenotype described by Virgil Haws in 1963, and using genetic linkage analysis, we localized the susceptibility gene to human chromosome 12q24.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 12*
  • Female
  • Fingers / abnormalities
  • Foot Deformities, Congenital / genetics*
  • Genetic Linkage
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Male
  • Pedigree
  • Toes / abnormalities