Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7
- 28 Downloads
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.
- Moser HW, Goldfischer SL (1985) The peroxisomal disorders. Hosp Pract 20:61–70Google Scholar
- Naritomi K, Hyakuna N, Suzuki Y, Orii T, Hirayama K (1988) Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7. Hum Genet 80:201–202Google Scholar
- Tager JM, Harmsen van der Beek WA ten, Wanders RJA, Hashimoto T, Heymans HSA, Bosch H van den, Schutgens RBH, Schram AW (1985) Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome. Biochem Biophys Res Commun 126:1269–1275Google Scholar