Inheritance of the mitral valve prolapse syndrome. Discussion of a three-dimensional penetrance model

Autor: N V, Strahan, E A, Murphy, N J, Fortuin, P C, Come, J O, Humphries
Rok vydání: 1983
Předmět:
Zdroj: The American journal of medicine. 74(6)
ISSN: 0002-9343
Popis: The families of 12 probands with classic mitral valve prolapse were studied for evidence of mitral valve prolapse. Seventy parents, sibs, and progeny were included in the analysis. Forty-seven percent (16 of 34) of progeny were affected compared with 30 percent (3 of 10) of parents. Thirty-eight percent (10 of 26) of sibs were affected. A three-compartmental penetrance model was devised to account for the variation in expression with age. This includes a latent stage (time before onset of signs), an affected stage, and a stage in which the subjects are withdrawn (because of treatment, regression, or death). The implications of this model are discussed.
Databáze: OpenAIRE