[Autosomal dominant transmission in retinitis pigmentosa].
The family tree, including 5 generations, of a female patient with typical retinitis pigmentosa has been studied. The transmission was irregular autosomal dominant the gene being manifest for 5 generations both to men and women. The gene penetration was 64%; less than evolution of the illness to bilateral cecity. The case seem to be closely related with the recessive forms of transmission.
Ghenoiu
R
R
Spitalul CFR, Craiova.
D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*
Transmiterea autozomal dominantă în retinopatia pigmentară.