New findings in the chromosome 13 long-arm deletion syndrome and retinoblastoma.
New clinical and pathologic findings in patients with deletion of the long arm of chromosome 13 (13q-) include optic nerve hypoplasia and retinal dysplasia. Fibroblasts derived from patients with a 13q- syndrome with and without retinoblastoma, as well as from familial and sporadic retinoblastoma, are a useful model for the study of genetic susceptibility to the development of spontaneous and radiation-induced cancers. Fibroblasts from patients with hereditary retinoblastoma appear more radiosensitive than fibroblasts from patients with sporadic retinoblastoma or normal control patients.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002460:Cell Line; D002648:Child; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D004260:DNA Repair / Q000528:radiation effects; D005124:Eye Abnormalities; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009381:Neoplasms, Radiation-Induced / Q000235:genetics; D009900:Optic Nerve / Q000002:abnormalities; D012160:Retina / Q000002:abnormalities; D012175:Retinoblastoma / Q000235:genetics* / Q000532:radiotherapy; D013577:Syndrome