Summary
The results of a lymphocyte chromosome survey of retinoblastoma (Rb) patients using a method able to detect a relatively low proportion mosaicism of 13q14 deletion are presented. Three out of 42 Rb patients had abnormal karyotypes; two mosaic cases with the karyotype 46,XY,del(13) (q14.1q14.3)/46,XY and 46,XX,del(13)(q14.1q14.3)/46,XX(the proportions of 13q14-cells, 51% and 9%, respectively), and the other with the karyotype 46,XY,del(13)(q14.1q21.2). All of these three cases had bilateral sporadic Rb. Two mosaic cases had an apparently normal phenotype except for Rb. These data suggest that the frequency of Rb cases with a 13q- cell line in lymphocytes may be greater than that which has been reported.
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References
Al Saadi A, Palutke M, Krishna Kumar G (1980) Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia. Hum Genet 55:23
Cross HE, Hansen RC, Morrow GIII, Davis JR (1977) Retinoblastoma in a patient 13qXp translocation. Am J Ophthalmol 84:548–554
Czeizel A, Csósz L, Gárdonyi J, Remenár L, Ruziscka P (1974) Chromosome studies in twelve patients with retinoblastoma. Humangenetik 22:159–166
Francke U, Kung F (1976) Sporadic bilateral retinoblastoma and 13 — chromosomal deletion. Med Pediatr Oncol 2:379–285
Francke U, Oliver N (1978) Quantitative analysis of high-resolution trypsin-Giemsa bands on human prometaphase chromosomes. Hum Genet 45:137–165
François J, DeBie S, Matton MT (1978) Genesis and genetics of retinoblastoma. Jpn J Ophthalmol 22:301–306
Hashem N, Khalifa S (1975) Retinoblastoma. A model of hereditary fragile chromosomal regions. Hum Hered 25:35–49
Hook EB (1977) Exclusion of chromosomal mosaicism: Tables of 90%, 95%, and 99% confidence limits and comments on use. Am J Hum Genet 29:94–97
Howard RO, Breg WR, Albert DM, Lesser RL (1974) Retinoblastoma and chromosome abnormality. Arch Ophthalmol 92: 490–493
Knight LA, Gardner HA, Gallie BL (1979) Absence of chromosome breakage in patients with retinoblastoma. Hum Genet 51: 73–78
Knudson AG, Meadows AT, Nichols WW, Hill R (1976) Chromosomal deletion and retinoblastoma. N Engl J Med 11:1120–1123
Lele KP, Penrose LS, Stallard HB (1963) Chromosome deletion in a case of retinoblastoma. Ann Hum Genet 27:171–174
Minoda K (1976) National registration of retinoblastoma children in 1975. Acta Soc Ophthalmol Jap 80:1648–1657
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
Orye E, Delbeke MJ, Vandenabeele B (1974) Retinoblastoma and long arm deletion of chromosome 13. Attempts to define the deleted segment. Clin Genet 5:457–464
Ozawa H, Tanaka Y, Tamura S, Kinoshita Y (1978) Retinoblastoma and D-chromosome deletion (13q-). Jpn J Ophthalmol 22: 320–325
Pagon RA, Hall JG, Davenport SLH, Aase J, Norwood TH, Hoehn HW (1979) Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. Am J Hum Genet 31:54–61
Riccardi VM, Hittner HM, Francke U, Pippin S, Holmquist GP, Kretzer FL, Ferrell R (1979) Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas. Clin Genet 15:332–345
Schroeder TM, Drings P, Beilner P, Buchinger G (1976) Clinical and cytogenetic observations during a six-year period in an adult with Fanconi's anaemia. Blut 34:119–132
Sparkes RS, Muller H, Klisak I (1979) Retinoblastoma with 13q-chromosomal deletion associated with maternal paracentric inversion of 13q. Science 203:1027–1029
Taylor AI (1970) Dq-, Dr and retinoblastoma. Humangenetik 10: 209–217
Thompson H, Lyons RB (1965) Retinoblastoma and multiple congenital anomalies associated with complex mosaicism with deletion of D chromosome and probable D/C translocation. Hum Chromos Newslett 15:21
Walbaum R, François P, Farriaux JP, Woillez M (1978) Un cas de rétinoblastome. Arch Ophthalmol 69:311–313
Wilson MG, Melnyk J, Towner JW (1969) Retinoblastoma and deletion D(14) syndrome. J Med Genet 6:322–327
Wilson MG, Towner JW, Fujimoto A (1973) Retinoblastoma and D-chromosome deletions. Am J Hum Genet 25:57–61
Wilson MG, Ebbin AJ, Towner JW, Spencer WH (1977) Chromosomal anomalies in patients with retinoblastoma. Clin Genet 12:1–8
Yunis JJ, Ramsay N (1978) Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child 132:161–163
Yunis JJ, Ball DW, Sawyer JR (1979) G-banding patterns of high-resolution human chromosomes 6–22, X, and Y. Hum Genet 49:291–306
Vogel F (1979) Genetics of retinoblastoma. Hum Genet 52:1–54
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Motegi, T. Lymphocyte chromosome survey in 42 patients with retinoblastoma: Effort to detect 13q14 deletion mosaicism. Hum Genet 58, 168–173 (1981). https://doi.org/10.1007/BF00278704
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DOI: https://doi.org/10.1007/BF00278704