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 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.
Naritomi
K
K
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
Izumikawa
Y
Y
Ohshiro
S
S
Yoshida
K
K
Shimozawa
N
N
Suzuki
Y
Y
Orii
T
T
Hirayama
K
K
D000102:Acetyl-CoA C-Acyltransferase / Q000235:genetics; D042962:Acyl-CoA Oxidase; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005227:Fatty Acids / Q000032:analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008830:Microbodies / Q000201:enzymology; D010088:Oxidoreductases / Q000235:genetics; D012016:Reference Values; D013109:Sphingomyelins / Q000097:blood; D015211:Zellweger Syndrome / Q000097:blood / Q000235:genetics*
D005227:Fatty Acids; D013109:Sphingomyelins; D010088:Oxidoreductases; D042962:Acyl-CoA Oxidase; D000102:Acetyl-CoA C-Acyltransferase