The Rett syndrome: genetics and the future.
Genetic and nongenetic explanations of female-limited disease, such as the Rett syndrome, are reviewed, with emphasis on the possibility of a disturbance of late-replicating X-chromosome heterochromatinization. A possible disturbance of X-chromosome late-replication, as demonstrated by BUdR terminal pulse-labelling is described for a specific Rett syndrome patient.
D002871:Chromosome Banding; D004261:DNA Replication; D004303:Dosage Compensation, Genetic; D005260:Female; D008040:Genetic Linkage; D006570:Heterochromatin / Q000032:analysis; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009069:Movement Disorders / Q000235:genetics*; D009154:Mutation; D013577:Syndrome; D014960:X Chromosome
D006570:Heterochromatin