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Wolf-Hirschhorn

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

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.

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

Microscope Images

Wolf Hirschhorn magnified

Disclaimer

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