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CytoCell fluorescence in situ hybridisation (FISH) logo.

Product summary

  • Chromosomes
    4
  • Labels    
  • Disease focus Constitutional
  • Regulatory status In vitro diagnostic. This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.
Cytocell Catalogue Probe Packaging With Amber Tube
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Probe design

Overview

Probe specification

  • Wolf-Hirschhorn, 4p16.3, Red
  • 4qter, 4q35.2, Green

The Wolf-Hirschhorn probe is 223kb, labelled in red and covers a region centromeric to the FGFR3 and LETM1 genes, including the D4S166 marker. The 4qter subtelomere specific probe (clone CTC-963K6), labelled in green, allows identification of chromosome 4 and acts as a control probe.

 

Probe information

Wolf-Hirschhorn syndrome is a multiple malformation syndrome characterised by severe growth deficiency, severe to profound mental retardation with the onset of convulsions in early infancy, microcephaly, sacral dimples and a characteristic face ('Greek helmet appearance')1,2.

The phenotype results from the partial deletion of the short arm of chromosome 4 (4p16.3). Molecular analyses of patients with small terminal and interstitial deletions have allowed the definition of the Wolf-Hirschhorn Critical Region, which is 165kb in size and lies between D4S166 and D4S33273.

Product documentation

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References

  1. Wilson MG et al., Hum Genet 1981;59:297-307
  2. Kohlschmidt et al., Prenat Diagn 2000;20(2):152-5
  3. Wright TJ et al., Hum Mol Genet 1997;6(2):317-24