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Mutations in MECP2 on Xq28 chromosome were identified as the cause of Rett syndrome in 1999 [1]. Subsequently, a submicroscopic duplication encompassing MECP2 was reported in 2005 in a boy with hypotonia, intellectual disability, absent speech, loss of purposeful hand movement and development of stereotypic hand movements [2]. The use of multiplex ligation-dependent probe amplification (MLPA), and more recently, chromosomal microarray analysis (CMA), has led to the identification of an increasing number of affected males and the recognition of the MECP2 duplication syndrome phenotype.
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