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.
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.
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