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.
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.
Not only do CytoCell offer an extensive range of high-quality FISH probes, the customer support is also excellent — providing fast access to all the probes I need. The probes are highly consistent with bright signals allowing easy scoring of results.
Dr Eric Crawford
Senior Director, Genetics Associates Inc., USA