Chromosome findings in the Rett syndrome and a test of a two-step mutation theory.
Chromosome findings are described in 22 girls with the Rett syndrome. One of the girls had a duplication of chromosome 6, another showed a deletion X(p22----pter) in 10% of the cells from fibroblast cultures. Fragile X(p22) was seen in 9 of the 22 girls with Rett syndrome. A relationship between the disorder and fragile X(p22) could not be proven. Family data contradict our theory of a two-step mutation as the cause of the Rett syndrome.
D000328:Adult; D001321:Autistic Disorder / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002873:Chromosome Fragility; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D005600:Fragile X Syndrome / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009069:Movement Disorders / Q000235:genetics*; D009154:Mutation; D013577:Syndrome; D014960:X Chromosome