Hereditary retinoblastoma: Penetrance, expressivity and age of onset View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1976-01

AUTHORS

Ei Matsunaga

ABSTRACT

Analyses of family data published in Japan concerning 29 kindreds with 2 or more cases of retinoblastoma revealed that, in the children who received the gene from a carrier parent, both penetrance and expressivity increase with increasing degree of expressivity in the parent. The estimate for the average degree of penetrance varies from 0.7 to 0.9, depending upon the method employed. The value will be increased with increasing number of survivors of hereditary retinoblastoma. Data were presented to indicate that the hereditary form of retinoblastoma onset tends to be later in unilateral than in bilateral affection, though in the non-hereditary form onset will be further delayed. No effect of birth order was detected. It was suggested that suppressor genes at other loci play a significant role in manifestation of the major dominant gene for retinoblastoma. Implications of these findings were discussed. More... »

PAGES

1-15

References to SciGraph publications

  • 1974-12. Étude génétique du rétinoblastome in HUMANGENETIK
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/bf00447281

    DOI

    http://dx.doi.org/10.1007/bf00447281

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1038887999

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/939555


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