Article
Pseudo low penetrance in retinoblastoma. Fortuitous familial aggregation of sporadic cases caused by independently derived mutations in two large pedigrees.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1993
Munier F L, Wang M X, Spence M A, Thonney F, Balmer A, Pescia G, Donoso L A, Murphree A L
Abstract excerpt
OBJECTIVE: The disparate occurrence of few cases of retinoblastoma in the same extended pedigree confronts us with the unsolved problem of a low-penetrant autosomal-dominant trait vs fortuitous familial aggregation of sporadic cases. Determination as to whether the disease arises from a common in...
Topics
- Child, Preschool
- DNA, Neoplasm
- Eye Neoplasms
- Female
- Genes, Retinoblastoma
- Genetic Linkage
- Humans
- Infant
- Male
- Models, Biological
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Probability
- Retinoblastoma