Linkage of preaxial polydactyly type 2 to 7q36

Am J Med Genet. 1995 Aug 28;58(2):128-35. doi: 10.1002/ajmg.1320580208.


We have characterized a 6-generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD-2). We demonstrate linkage to the 7q36 region and describe a submicroscopic telomeric chromosomal deletion in phase with the PPD-2 phenotype. Recently, several kindreds segregating triphalangeal thumb (TPT) with and without associated hand anomalies (syndactyly and/or postaxial polydactyly) have also been linked to the subtelomeric region of chromosome 7q [Heutink et al., 1994: Nat Genet 6:287-291; Tsukurov et al., 1994: Nat Genet 6:282-286]. We demonstrate by haplotype analysis that our North American pedigree represents a PPD allele that is independent of the founder PPD allele present in the previously described kindreds.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7*
  • Genetic Linkage
  • Haplotypes
  • Heterozygote
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Polydactyly / genetics*
  • Polymorphism, Genetic
  • Thumb / abnormalities
  • Toes / abnormalities