Abstract • 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. References 1. Gallie BL, Phillips RA: Multiple manifestations of the retinoblastoma gene . Birth Defects 1982;18:689-701. 2. Gallie BL, Ellsworth RM, Abramson DH, et al: Retinoma: Spontaneous regression of retinoblastoma or benign manifestation of the mutation? Br J Cancer 1982;45:513-521.Crossref 3. Gallie BL, Phillips RA, Ellsworth RM, et al: Significance of retinoma and phthisis bulbi for retinoblastoma . Ophthalmology 1982;89:1393-1399.Crossref 4. Abramson DH, Ronner HJ, Ellsworth RM: Second tumors in nonirradiated bilateral retinoblastoma . Am J Ophthalmol 1979;87:624-627. 5. Bader JL, Miller RW, Meadows AT, et al: Trilateral retinoblastoma . Lancet 1980;2:582-583.Crossref 6. Howard RO: Chromosome errors in retinoblastoma . Birth Defects 1982;18:703-727. 7. Strong LC, Riccardi VM, Ferrell RE, et al: Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation . Science 1981;213:1501-1503.Crossref 8. Cavenee WK, Dryja TP, Phillips RA, et al: Expression of recessive alleles by chromosomal mechanisms in retinoblastoma . Nature 1983; 305:779-784.Crossref 9. Dryja TP, Gail AP, Bruns P, et al: Low incidence of deletion of the esterase D locus in retinoblastoma patients . Hum Genet 1983;64:151-155.Crossref 10. Sparkes RS, Sparkes MC, Wilson MG, et al: Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14 . Science 1980;208:1042-1044.Crossref 11. Motegi T, Kaga M, Yanagawa Y, et al: A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q . Hum Genet 1983;64:160-162.Crossref 12. Leversha M, Sinfield C, Webb GC: Rapid and reliable methods for the G- and C-banding of human and other mammalian chromosomes . Aust J Med Lab Sci 1980;1:139-143. 13. Yunis JJ: Chromosomes and cancer: New nomenclature and future directions . Hum Pathol 1981;12:494-503.Crossref 14. Yunis JJ: Specific fine chromosomal defects in cancer: An overview . Hum Pathol 1981; 12:503-515.Crossref 15. Fitzgerald MG, Webb GC: Karyotype nomenclature for known non-inheritance . Lancet 1972;2:1366-1367.Crossref 16. Gilbert F: Retinoblastoma and recessive alleles in tumorigenesis . Nature 1983;305:761-762.Crossref 17. Lee WH, Murphree AL, Benedict WF: Expression and amplification of the N-myc gene in primary retinoblastoma . Nature 1984;309:458-460.Crossref 18. Murphree AL, Benedict WF: Retinoblastoma: Clues to human oncogenesis . Science 1984; 223:1028-1033.Crossref 19. François J, Neetens A, Dumon J, et al: Chromosome 13 deletions and retinoblastoma . Ophthalmol Paediatr Genet 1983;3:121-134.Crossref
Archives of Ophthalmology – American Medical Association
Published: Jul 1, 1985
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