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

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 sy...

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Veröffentlicht in:	Human genetics 1989-12, Vol.84 (1), p.79-80
Hauptverfasser:	NARITOMI, K, IZUMIKAWA, Y, OHSHIRO, S, YOSHIDA, K, SHIMOZAWA, N, SUZUKI, Y, ORII, T, HIRAYAMA, K
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetyl-CoA C-Acyltransferase - genetics Acyl-CoA Oxidase Biological and medical sciences Chromosome Banding Chromosome Inversion Chromosome Mapping Chromosomes, Human, Pair 7 Errors of metabolism Fatty Acids - analysis Female Humans Infant, Newborn Karyotyping Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Microbodies - enzymology Oxidoreductases - genetics Reference Values Sphingomyelins - blood Zellweger Syndrome - blood Zellweger Syndrome - genetics
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Zusammenfassung:	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.
ISSN:	0340-6717 1432-1203
DOI:	10.1007/BF00210677