Summary
In serial cytogenetic examinations of peripheral lymphocytes from retinoblastoma patients, we found a patient with sporadic bilateral retinoblastoma with a de novo mutation of a 13/18 translocation, with their respective breakpoints at 13q141 and 18q122. The simultaneous de novo occurrence of retinoblastoma and the chromosomal rearrangement involving 13q14 in the proband suggests that the gene locus for retinoblastoma is at 13q141, particularly at the distal portion of it. Deletion mapping data are compatible with this suggestion.
Similar content being viewed by others
References
Cross HE, Hansen RC, Marrow GIII, Davis JR (1977) Retinoblastoma in a patient 13qXp translocation. Am J Ophthalmol 84:548–554
Davison EV, Gibbons B, Aherne GES, Roberts DF (1979) Chromosomes in retinoblastoma patients. Clin Genet 15:505–508
Hornstein L, Soukup S (1981) A recognizable phenotype in a child with partial duplication 13q in a family with t(10;13q). Clin Genet 19: 81–86
Ikeuchi T, Sasaki M (1979) Accumulation of early mitotic cells in ethidium bromide-treated human lymphocyte cultures. Proc Japan Acad 55:15–18
Jacobs PA, Hunt PA, Mayer M, Bart RD (1981) Duchenne muscular dystrophy (DMD) in a female with an X/autosomal translocation: Further evidence that the DMD locus is at Xp21. Am J Hum Genet 33:513–518
Motegi T (1981) Lymphocyte chromosome survey in 42 patients with retinoblastoma: Effort to detect 13q14 deletion mosaicism. Hum Genet 58:168–173
Nichols WW, Miller RC, Sobel M, Hoffman E, Sparkes RS, Mohandas T, Veomett I, Davis JR (1980) Further observations on a 13qXp translocation associated with retinoblastoma. Am J Ophthalmol 89: 621–627
Noel B, Quack B, Rethore MO (1976) Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations. Clin Genet 9:593–602
Stoll C, Levy JM, Dörr R, Kapps R (1975) Translocation t(13;17) (q14;q22) familiale diagnostiquee apres la naissance d'un enfant trisomique 21. J Génét Hum 23:327–334
Yunis JJ, Ramsay N (1978) Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child 132:161–163
Yunis E, Zuñiga R, Ramírez E (1981) Retinoblastoma, gross internal malformations, and deletion 13q14→q31. Hum Genet 56:283–286
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Motegi, T., Komatsu, M., Nakazato, Y. et al. Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: The assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it. Hum Genet 60, 193–195 (1982). https://doi.org/10.1007/BF00569711
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00569711