title: Genetic implications of Rett syndrome.
abstract: Cytogenetic analysis in 14 girls with the Rett syndrome revealed a deletion on the short arm of the X chromosome (del(X) (pter;p22] in one, and a fragile site on chromosome Xp22 in six of the girls. Two hypotheses concerning the genetic background to the Rett syndrome are suggested; an X-linked dominant mutation theory and a two-step mutation theory.
mesh_terms: D001259:Ataxia / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002904:Chromosomes, Human, 21-22 and Y; D003704:Dementia / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D013577:Syndrome; D014960:X Chromosome