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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
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.
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