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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 characteristic face ('Greek helmet appearance') 1.
The phenotype results from the partial deletion of the short arm of chromosome 4 (4p16.3), originally observed as a large cytogenetically visible terminal deletion of 2Mb. Molecular analyses of patients with small terminal and interstitial deletions have allowed for the definition of the Wolf-Hirschhorn Critical Region, which is 165Kb and lies between D4S166 and D4S33272.
Cat. No. LPU 009-S (5 tests)
Cat. No. LPU 009 (10 tests)
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