Genetic aspects of Rett syndrome.
To date over 1,000 cases of Rett syndrome have been described in females exclusively. Some of these cases, less than 2 in 100, are familial. The inheritance through maternal lines in the familial cases suggests that Rett syndrome is an X-linked disorder lethal in males. Hypotheses about the genetic mechanisms involved in this syndrome along with suggestions to approach the molecular basis of this disorder are presented.
Zoghbi
H
H
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030.
D000641:Ammonia / Q000097:blood*; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D004200:Diseases in Twins; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D019965:Neurocognitive Disorders / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
D000641:Ammonia