MECP2 duplication phenotype in symptomatic females: report of three further cases

@inproceedings{Novara2013MECP2DP,
  title={MECP2 duplication phenotype in symptomatic females: report of three further cases},
  author={Francesca Novara and Alessandro Simonati and Federico Sicca and Roberta Battini and Simona Fiori and Annarita Contaldo and Lucia Criscuolo and Orsetta Zuffardi and Roberto Ciccone},
  booktitle={Molecular Cytogenetics},
  year={2013}
}
Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including MECP2 have been reported so far… CONTINUE READING