FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site

Am J Med Genet. 1994 Aug 1;52(1):70-4. doi: 10.1002/ajmg.1320520114.


Wolf-Hirschhorn syndrome (WHS) is due to a deletion in the terminal band of 4p16.3. Among loci that have been involved in deletions are D4S98, D4S95, D4S125, D4F26, as shown by PCR typing, Southern blot hybridization, and/or fluorescent in situ hybridization (FISH). Currently, FISH detection of WHS is predicted upon the deletion of the D4F26 locus with failure to hybridize to pC847.351, a commercially available cosmid probe. A WHS patient is shown to have an interstitial deletion, by hemizygosity at D4S98 and D4S95 but not at D4F26. This suggests that the tip of 4p, specifically D4F26, is not a critical deletion site for WHS.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4*
  • Female
  • Growth Disorders / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Syndrome