Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.
A 16-day-old girl with Zellweger syndrome and a chromosomal rearrangement, 46,XX,del(7)(q11.22q11.23), is reported. The diagnosis was confirmed by marked deficiencies of peroxisomal beta-oxidation enzymes and dihydroxyacetone phosphate acyltransferase activities in rectal cells and fibroblasts obtained by biopsy and in hepatic cells obtained at autopsy. This is the first report of Zellweger syndrome associated with a chromosomal arrangement, a microdeletion of chromosome 7. A tentative gene assignment to 7q11 is suggested.
Naritomi
K
K
Department of Pediatrics, School of Medicine, University of the Ryukyus, Okinawa, Japan.
Hyakuna
N
N
Suzuki
Y
Y
Orii
T
T
Hirayama
K
K
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D015211:Zellweger Syndrome / Q000235:genetics*