Linkage of preaxial polydactyly type 2 to 7q36

A. V. Hing, C. Helms, R. Slaugh, A. Burgess, J. C. Wang, T. Herman, S. B. Dowton, H. Donis-Keller

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37 Scopus citations


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.

Original languageEnglish
Pages (from-to)128-135
Number of pages8
JournalAmerican journal of medical genetics
Issue number2
StatePublished - 1995


  • chromosome 7q36
  • duplicated thumb
  • limb development
  • preaxial polydactyly
  • triphalangeal thumb


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