title: Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).
abstract: OTC deficiency, the most common urea cycle defect, is transmitted as a partially dominant X-linked trait. The most severe form of the disease, however, is usually restricted to males. We report on monozygotic female twins with severe neonatal-onset OTC deficiency and a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). Disruption of the OTC gene on the derivative X-chromosome was confirmed by FISH analysis. Consistent inactivation of the normal X could be demonstrated by RGB staining. Manifestation of X-linked recessive disorders in females due to a balanced reciprocal X-autosome translocation has previously been described in Duchenne muscular dystrophy and several other disorders but not in OTC deficiency. This report emphasizes the importance of chromosome analysis in any female manifesting severe OTC deficiency.
authors.affiliation: Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Germany. mzenker@humgenet.uni-erlangen.de
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Bendicht
authors.initials: B
authors.lastname: Wermuth
authors.forename: Udo
authors.initials: U
authors.lastname: Trautmann
authors.forename: Ina
authors.initials: I
authors.lastname: Knerr
authors.forename: Cornelia
authors.initials: C
authors.lastname: Kraus
authors.forename: Anita
authors.initials: A
authors.lastname: Rauch
authors.forename: André
authors.initials: A
authors.lastname: Reis
mesh_terms: D017668:Age of Onset; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D004200:Diseases in Twins / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008957:Models, Genetic; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D035781:Siblings; D014178:Translocation, Genetic; D014427:Twins / Q000235:genetics
chemical_list: D009954:Ornithine Carbamoyltransferase