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. 1983;65(2):122-4.
doi: 10.1007/BF00286647.

Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity

M J Connolly, R H Payne, G Johnson, B L Gallie, P W Allderdice, W H Marshall, R D Lawton

Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity

M J Connolly et al. Hum Genet. 1983.

Abstract

We report an example of four generation familial retinoblastoma in which there are three distinct categories of RB gene expression: frank retinoblastoma, unilateral or bilateral; retinoma; and no visible evidence of retinal pathology other than normal degeneration with age. Two large sibships derived from matings informative for RB and EsD provide strong confirmatory evidence for tight linkage between these loci (P = 0.0002), and thus assignment of RB to chromosome 13q14. There is a striking difference (P less than 2%) in RB penetrance between the two principal generations, which suggests that an additional epistatic, host-resistance gene may also be segregating within the family.

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References

    1. Br J Cancer. 1982 Apr;45(4):513-21 - PubMed
    1. Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3 - PubMed
    1. Am J Hum Genet. 1978 Jul;30(4):406-24 - PubMed
    1. Science. 1980 May 30;208(4447):1042-4 - PubMed
    1. Ann Hum Genet. 1973 Oct;37(2):119-37 - PubMed

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