Abstract
A method is presented for estimating the probability of an affected child being born to a clinically unaffected subject who is at risk for having inherited a rare gene for an autosomal dominant disorder of unknown penetrance. The maximal risk is 8.6% for children of persons at 50% risk for having inherited the mutant gene regardless of the true penetrance of the disorder in question. Applications of this maximal risk figure, which should be of benefit in various counselling situations, are summarised.
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- Robinow M., Sorauf T. J. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects Orig Artic Ser. 1975;11(5):99–106. [PubMed] [Google Scholar]
- Scribanu N., Temtamy S. A. The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs. J Pediatr. 1975 Jul;87(1):79–82. doi: 10.1016/s0022-3476(75)80074-6. [DOI] [PubMed] [Google Scholar]
- Sparkes R. S., Graham C. B. Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature. J Med Genet. 1972 Mar;9(1):73–85. doi: 10.1136/jmg.9.1.73. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tattersall R. B. Mild familial diabetes with dominant inheritance. Q J Med. 1974 Apr;43(170):339–357. [PubMed] [Google Scholar]
- VOGEL F. Verzögerte Mutation beim Menschen; einige kritishe Bemerkungen zu Ch. Auerbachs Arbeit (1956). Ann Hum Genet. 1958 Feb;22(2):132–137. doi: 10.1111/j.1469-1809.1957.tb01927.x. [DOI] [PubMed] [Google Scholar]