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