A complex bilateral polysyndactyly disease locus maps to chromosome 7q36

Nat Genet. 1994 Mar;6(3):282-6. doi: 10.1038/ng0394-282.


We demonstrated that the gene responsible for a congenital limb deformity (polysyndactyly) maps to chromosome 7q36 in a large family. Pre- and postaxial anomalies of the extremities are inherited in this family as an autosomal dominant trait. The disease locus is closely linked to D7S550 (maximum lod score = 6.85, theta = 0). This region is homologous to a segment of mouse chromosome 5, where the mutations hammer toe (HM) and hemimelic extra toes (HX) have been mapped. These data suggest that human chromosome 7q36 and the homologous region of mouse chromosome 5 contain genes involved in limb pattern formation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • DNA Primers / genetics
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Genotype
  • Humans
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides / genetics
  • Pedigree
  • Polydactyly / complications*
  • Polydactyly / genetics*
  • Repetitive Sequences, Nucleic Acid
  • Syndactyly / complications*
  • Syndactyly / genetics*


  • DNA Primers
  • Genetic Markers
  • Oligodeoxyribonucleotides