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Science 25 September 1981:
Vol. 213. no. 4515, pp. 1501 - 1503
DOI: 10.1126/science.7280668
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Articles

Science, Vol 213, Issue 4515, 1501-1503
Copyright © 1981 by American Association for the Advancement of Science

articles

Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation

LC Strong, VM Riccardi, RE Ferrell, and RS Sparkes

Surviving persons from a kindred in which retinoblastoma occurred over four generations, transmitted by eight unaffected individuals, underwent chromosomal analysis. The results revealed that the development of retinoblastoma was associated with a constitutional chromosome deletion del(13)(q13.1q14.5) and that the unaffected transmitting state was associated with a balanced insertional translocation. These findings indicate that predisposition to retinoblastoma may be attributed to the loss of specific genetic material and that a chromosomal mechanism may explain apparent lack of gene penetrance in certain families. The development of unilateral, and not bilateral, retinoblastoma suggests either that the chromosome deletion is different from the mutation of heritable retinoblastoma in general, or that the chromosome deletion lessens the probability of subsequent somatic carcinogenic events.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Dup(13)(q14.2-q14.3): Yet Another New Differential Diagnostic Aspect for Short Stature-like Phenotype.
I. Schreyer, A. Neumann, V. Beensen, K.-H. Eichhorn, A. Heller, U. Claussen, and T. Liehr (2005)
J. Histochem. Cytochem. 53, 365-366
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Molecular evidence for putative tumour suppressor genes on chromosome 13q specific to BRCA1 related ovarian and fallopian tube cancer.
A P M Jongsma, J M J Piek, R P Zweemer, R H M Verheijen, J W T Klein Gebbinck, G J van Kamp, I J Jacobs, P Shaw, P J van Diest, and P Kenemans (2002)
Mol. Pathol. 55, 305-309
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Molecular Basis of Low-Penetrance Retinoblastoma.
J. W. Harbour (2001)
Arch Ophthalmol 119, 1699-1704
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Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl.
L. BRECEVIC, S. BASARAN, F. DUTLY, B. RÖTHLISBERGER, and A. SCHINZEL (2000)
J. Med. Genet. 37, 964-967
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Pseudo Low Penetrance in Retinoblastoma: Fortuitous Familial Aggregation of Sporadic Cases Caused by Independently Derived Mutations in Two Large Pedigrees.
F. L. Munier, M. X. Wang, M. A. Spence, F. Thonney, A. Balmer, G. Pescia, L. A. Donoso, and A. L. Murphree (1993)
Arch Ophthalmol 111, 1507-1511
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Structural evidence for the authenticity of the human retinoblastoma gene.
Y. Fung, A. Murphree, A T'Ang, J Qian, S. Hinrichs, and W. Benedict (1987)
Science 236, 1657-1661
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Human retinoblastoma susceptibility gene: cloning, identification, and sequence.
W. Lee, R Bookstein, F Hong, L. Young, J. Shew, and E. Lee (1987)
Science 235, 1394-1399
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Retinoblastoma and Retinoma Occurring in a Child With a Translocation and Deletion of the Long Arm of Chromosome 13.
C. G. Keith and G. C. Webb (1985)
Arch Ophthalmol 103, 941-944
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Genetic origin of mutations predisposing to retinoblastoma.
W. Cavenee, M. Hansen, M Nordenskjold, E Kock, I Maumenee, J. Squire, R. Phillips, and B. Gallie (1985)
Science 228, 501-503
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Retinoblastoma: clues to human oncogenesis.
A. Murphree and W. Benedict (1984)
Science 223, 1028-1033
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Familial renal cell carcinoma with a 3;11 chromosome translocation limited to tumor cells.
S Pathak, L. Strong, R. Ferrell, and A Trindade (1982)
Science 217, 939-941
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