, Volume 84, Issue 1, pp 79-80

Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7

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Summary

The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated with a rearrangement of chromosome 7, the tentative gene assignment to 7q11 being further supported; the gene is probably confiend to 7q11.23.