The MECP2 duplication syndrome is a rare disorder that is caused by the duplication of chromosome Xq28, including the entire MECP2 gene.
Main clinical features
The core features consist of early infantile hypotonia, delayed motor and speech development, severe intellectual disability, epilepsy and proneness to infections.
Prevalence
The overall prevalence of this condition is estimated to be 1% of unexplained X-linked intellectual disability.
Inheritance
It is an X-linked disorder mostly affecting males, however, several female patients have been identified, showing unfavorable X-inactivation pattern.