title: Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient.
abstract: Most patients with the complex association aniridia - predisposition to Wilms' tumor (WAGR syndrome) present with a de novo constitutional deletion of band 11p13. We report a patient with WAGR syndrome and a reciprocal translocation between chromosomes 5 and 11 t(5;11) (q11;p13). High resolution banding cytogenetic analysis and molecular characterization using 11p13 DNA markers showed a tiny deletion encompassing the gene for CAT but sparing the gene for FSHB. This suggests that syndromes associated with apparently balanced translocations may be due to undetectable loss of material at the breakpoint(s) rather than to breakage in the gene itself.
authors.affiliation: Unité de Génétique, CHU d'Angers, France.
authors.forename: H
authors.initials: H
authors.lastname: Puissant
authors.forename: M
authors.initials: M
authors.lastname: Azoulay
authors.forename: J L
authors.initials: JL
authors.lastname: Serre
authors.forename: L L
authors.initials: LL
authors.lastname: Piet
authors.forename: C
authors.initials: C
authors.lastname: Junien
mesh_terms: D002478:Cells, Cultured; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics*; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D012867:Skin / Q000473:pathology; D014178:Translocation, Genetic; D009396:Wilms Tumor / Q000235:genetics*