Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1

Clin Genet. 1995 Feb;47(2):90-5. doi: 10.1111/j.1399-0004.1995.tb03930.x.


A deletion of 7q21.2-q22.1 has been found in a patient with split foot and developmental retardation. Molecular analysis using polymerase chain reaction (PCR) showed deletion of three microsatellite markers, D7S527, D7S479 and D7S554, in the patient's paternal chromosome. These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7*
  • Foot Deformities, Congenital / genetics*
  • Gene Deletion
  • Genetic Markers
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Polymerase Chain Reaction
  • Syndactyly / genetics


  • Genetic Markers