title: Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.
abstract: A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic DNA markers indicated that the patient did not inherit paternal alleles of the OTC locus, but that she did inherit the proximal locus DXS7 and the long arm of chromosome X. High-resolution cytogenetic analysis of the patient indicated a deletion of Xp11.4-p21, whereas both parents had normal karyotypes. Since the mother might be heterozygous according to biochemical tests, a second mutation within the maternal OTC gene cannot be excluded.
authors.affiliation: Institut für Humangenetik, Universität, Göttingen, Federal Republic of Germany.
authors.forename: R
authors.initials: R
authors.lastname: Slomski
authors.forename: I
authors.initials: I
authors.lastname: Braulke
authors.forename: C
authors.initials: C
authors.lastname: Behrend
authors.forename: E
authors.initials: E
authors.lastname: Schröder
authors.forename: J P
authors.initials: JP
authors.lastname: Colombo
authors.forename: J
authors.initials: J
authors.lastname: Reiss
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood*; D002675:Child, Preschool; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014960:X Chromosome / Q000502:physiology*
chemical_list: D000641:Ammonia; D009954:Ornithine Carbamoyltransferase