Patterns of X chromosome inactivation in the Rett syndrome
HY Zoghbi, AK Percy, RJ Schultz, C Fill - Brain and Development, 1990 - Elsevier
The Rett syndrome (RS) is a degenerative neurological disorder occurring exclusively in
young females. The disorder is sporadic in the majority of the cases, however a few familial
cases with inheritance through maternal lines have been identified. Based on these
observations the condition could be due to an X chromosome mutation which is lethal in
males. To explain the familial cases, a hypothesis of possible non-random X inactivation is
proposed. To investigate the possibility of non-random X chromosome inactivation in RS, we …
young females. The disorder is sporadic in the majority of the cases, however a few familial
cases with inheritance through maternal lines have been identified. Based on these
observations the condition could be due to an X chromosome mutation which is lethal in
males. To explain the familial cases, a hypothesis of possible non-random X inactivation is
proposed. To investigate the possibility of non-random X chromosome inactivation in RS, we …