Turcot's syndrome. Evidence for autosomal dominant inheritance.
A case of Turcot's syndrome (colonic polyposis plus a malignant central nervous system tumor) occurring in a kindred with autosomal dominant colonic polyposis is presented. It is proposed that Turcot's syndrome patients can be classified into Type I where only siblings are affected and Type II where two or more generations have colonic polyposis. A third nonfamilial group cannot be classified into Type I or II based on available information. Evidence is presented suggesting Turcot's syndrome is best considered an additional phenotype of familial polyposis and is most likely inherited in an autosomal dominant manner.
D002528:Cerebellar Neoplasms / Q000235:genetics* / Q000601:surgery; D002648:Child; D003110:Colonic Neoplasms / Q000235:genetics* / Q000601:surgery; D005799:Genes, Dominant; D006801:Humans; D007417:Intestinal Polyps / Q000235:genetics* / Q000601:surgery; D008297:Male; D008527:Medulloblastoma / Q000235:genetics* / Q000601:surgery; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome