Article Text

Download PDFPDF
Risk estimation in autosomal dominant disorders with reduced penetrance.
  1. A E Emery


    The occurrence in a family of an isolated case of an autosomal dominant disorder with reduced penetrance presents a difficult problem in genetic counselling. It is shown that in such a situation the risk of recurrence in subsequent offspring is given by: (formula; see text) where P is the penetrance (0 less than P less than 1) and f' the relative fitness (0 less than f' less than 1) of affected individuals. In all cases the risks of recurrence will exceed 1 in 20 unless penetrance is high (greater than 0.90) and the relative fitness of affected persons is low (less than 0.6).

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.