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Catalogue Numbers
LPU 009-S (5 tests)
LPU 009 (10 tests)

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.

The quality of the products we have received from Cytocell have been excellent. The FISH probes they provide to us give intense, strong signals and are a pleasure to count. What has really stood out however has been the level of support and assistance provided by Cytocell’s application specialists. The team worked very closely alongside our own during the adoption of this product and spent many hours with us perfecting the technique, going above and beyond what I would expect during the transition period. Source BioScience absolutely demand high quality products and service to be able to deliver our results with confidence, and that is what we have received from Cytocell. Neil Ryan, Laboratory Operations Manager at Source BioScience


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

Microscope Images

Wolf Hirschhorn magnified


This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.