A family segregating for the retinoblastoma predisposition gene has been analysed using the polymerase chain reaction to exclude their son as being an affected gene carrier. The unusual feature of this family is that the affected child, who would ordinarily have been used to establish phase in a linkage study, died as a result of developing a second tumour some years ago. The only tissue available from this child was a paraffin embedded, formalin fixed histopathological specimen from the second tumour. It was possible to isolate DNA from this tissue and amplify the DNA flanking two polymorphic restriction enzyme sites to establish alieles which cosegregated with tumour predisposition. Archival material can now be used to offer families such as this prenatal screening to provide informed genetic counselling.Retinoblastoma (Rb) is the most common intraocular tumour of children. In its familial form the tumour phenotype segregates as an autosomal dominant trait. ' Rb arises as a result of mutations in both copies of the Rb gene.2 Most cases are apparently sporadic, owing to random key mutations in both genes; in hereditary cases (25 to 40%), however, the first mutation is transmitted through the germline and only the second mutation occurs as a random somatic event. Subjects carrying the Rb predisposition gene are also at a significantly higher risk than the general population for development of a number of other tumours, especially osteosarcoma and soft tissue sarcomas.3 4 Through the analysis of rare constitutional chromosomal deletions5 6 and classical linkage studies using