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Journal of Child Neurology
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Genetic Aspects of Rett Syndrome

Huda Zoghbi, MD

Department of Pediatrics and the Institute for Molecular Genetics, Baylor College of Medicine, Houston

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. (J Child Neurol 1988;3(Suppl):S76-S78).

Journal of Child Neurology, Vol. 3, No. 1 suppl, S76-S78 (1988)
DOI: 10.1177/088307388800300115
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