title: Choroideremia associated with an X-autosomal translocation.
abstract: A patient with mild choroideremia has been shown to carry a balanced translocation between chromosome X and 13-46,X,t(X;13)(q21.2;p12). Loci (DXY21, DX232, DX233) shown to map to this region on the X chromosome and in some cases to be deleted in other patients with choroideremia are intact in the DNA from this patient. To our knowledge this is the first report of a translocation associated with choroideremia. One of the translocation chromosomes, derivative 13, free of the derivative X and normal X, has been isolated in a somatic cell hybrid. Because of the clinical association of the eye findings with chromosome interchange, we suggest that the breakpoint on the X is at or near the choroideremia locus. Further analysis of this translocation may be useful in cloning the choroideremia gene.
authors.affiliation: Department of Paediatrics, Children's Hospital of Western Ontario, London, Canada.
authors.forename: V M
authors.initials: VM
authors.lastname: Siu
authors.forename: J R
authors.initials: JR
authors.lastname: Gonder
authors.forename: J H
authors.initials: JH
authors.lastname: Jung
authors.forename: F R
authors.initials: FR
authors.lastname: Sergovich
authors.forename: W F
authors.initials: WF
authors.lastname: Flintoff
mesh_terms: D000328:Adult; D015794:Choroideremia / Q000235:genetics*; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007621:Karyotyping; D014178:Translocation, Genetic; D014960:X Chromosome
chemical_list: D015342:DNA Probes