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

K Naritomi; Y Izumikawa; S Ohshiro; K Yoshida; N Shimozawa; Y Suzuki; T Orii; K Hirayama

doi:10.1007/BF00210677

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

Hum Genet. 1989 Dec;84(1):79-80. doi: 10.1007/BF00210677.

Authors

K Naritomi¹, Y Izumikawa, S Ohshiro, K Yoshida, N Shimozawa, Y Suzuki, T Orii, K Hirayama

Affiliation

¹ Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.

PMID: 2606480
DOI: 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.

Publication types

Case Reports

MeSH terms

Acetyl-CoA C-Acyltransferase / genetics
Acyl-CoA Oxidase
Chromosome Banding
Chromosome Inversion*
Chromosome Mapping
Chromosomes, Human, Pair 7*
Fatty Acids / analysis
Female
Humans
Infant, Newborn
Karyotyping
Microbodies / enzymology
Oxidoreductases / genetics
Reference Values
Sphingomyelins / blood
Zellweger Syndrome / blood
Zellweger Syndrome / genetics*

Substances

Fatty Acids
Sphingomyelins
Oxidoreductases
Acyl-CoA Oxidase
Acetyl-CoA C-Acyltransferase