Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.
Somatic mosaicism for a deletion in the ornithine transcarbamylase gene is described in a boy with sporadic late onset ornithine transcarbamylase deficiency. These findings are discussed in relation to the clinical picture of the patient and in relation to genetic counseling.
Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
E
E
Legius
E
E
Baten
M
M
Stul
P
P
Marynen
J J
JJ
Cassiman
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood; D002675:Child, Preschool; D002872:Chromosome Deletion; D015342:DNA Probes; D006801:Humans; D008297:Male; D009030:Mosaicism; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D015183:Restriction Mapping
D015342:DNA Probes; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase