title: Balanced reciprocal translocation (X;20) limited to Wilms' tumor in a Wiedemann-Beckwith syndrome.
abstract: A girl aged 4 years 3 months with sporadic unilateral Wilms' tumor associated with Wiedemann-Beckwith syndrome, but without aniridia, was found to have a t(X;20) in the tumor cells. Karyotypes of peripheral blood of the patient and her parents were normal. This translocation was confined to the tumor and not been previously reported either in nephroblastoma or any other neoplastic processes. Although there is no microscopic deletion on chromosome 11 and catalase activity was not decreased, we cannot rule out the possibility of a point mutation or a submicroscopic deletion.
authors.affiliation: Servicio de Genética, Hospital La Paz, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Diaz de Bustamante
authors.forename: A
authors.initials: A
authors.lastname: Delicado
authors.forename: P
authors.initials: P
authors.lastname: Garcia de Miguel
authors.forename: M T
authors.initials: MT
authors.lastname: Darnaude
authors.forename: M L
authors.initials: ML
authors.lastname: de Torres
authors.forename: R M
authors.initials: RM
authors.lastname: Zumel
authors.forename: I
authors.initials: I
authors.lastname: Lopez Pajares
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002675:Child, Preschool; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006801:Humans; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics*; D014178:Translocation, Genetic; D009396:Wilms Tumor / Q000235:genetics*; D014960:X Chromosome