title: The fragile (X) syndrome: the mutation problem.
abstract: In an attempt to understand the nature of the mutational event leading to the fra(X) syndrome, we have searched for sporadic cases in 3 populations: affected males, affected females, and non-affected transmitting females. In all 3 populations there was a dearth of isolated cases, and the reasons for this are discussed.
mesh_terms: D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012641:Selection, Genetic; D012729:Sex Chromosome Aberrations / Q000235:genetics*