Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7
- 1 December 1989
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 84 (1) , 79-80
- https://doi.org/10.1007/bf00210677
Abstract
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.Keywords
This publication has 3 references indexed in Scilit:
- Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7Human Genetics, 1988
- The Peroxisomal DisordersHospital Practice, 1985
- Peroxisomal β-oxidation enzyme proteins in the Zellweger syndromeBiochemical and Biophysical Research Communications, 1985