Retinoblastoma and retinoma occurring in a child with a translocation and deletion of the long arm of chromosome 13.
A young girl who had an active retinoblastoma in the left eye, and a retinoma or spontaneously regressed retinoblastoma in the right eye, was found to have a complex translocation-deletion involving chromosomes 13 and 10. Karyotypic analysis suggested that three simultaneous breaks had led to the interchange of centric and telomeric regions of chromosome 10 and 13, with loss of an interstitial acentric fragment from 13, which included subband 13q14.2. The child is intellectually retarded, and has the characteristic midface appearance associated with 13q-deletion syndrome. It is believed that this is the first report of a case of retinoblastoma and retinoma occurring in association with 13q-deletion syndrome.
D002675:Child, Preschool; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D003582:Cytogenetics; D005134:Eye Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007621:Karyotyping; D009336:Necrosis; D012175:Retinoblastoma / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic