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Product summary

  • Technology FISH
  • Application Cytogenetics & rare disease
  • Areas of interest Constitutional
  • Region 4p16.3
    4qter
  • Label    
  • Product No. LPU 009 (10 tests)
    LPU 009-S (5 tests)
  • Intended use In vitro diagnostic. This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.

Chromomaps

Overview

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.

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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

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