Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene

Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated the genetic basis of disease in a female patient with a Rett-like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome -46,X,inv(X)(p22.1q28), with breakpoints in the cy...

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Bibliographic Details
Main Author: Vieira, José Pedro (author)
Other Authors: Lopes, Fátima Daniela Teixeira (author), Fernandes, Anabela Silva (author), Sousa, Maria Vânia (author), Moura, Sofia (author), Sousa, Susana (author), Costa, Bruno M. (author), Barbosa, Mafalda Fernanda Cabral Santos (author), Ylstra, Bauke (author), Temudo, Teresa (author), Lourenço, Teresa (author), Maciel, P. (author)
Format: article
Language:eng
Published: 2015
Subjects:
Epigenetics
Epilepsy
Intellectual disability
Neurodevelopment
Ciências Médicas::Medicina Básica
Science & Technology
Online Access:http://hdl.handle.net/1822/51352
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/51352

Internet

http://hdl.handle.net/1822/51352

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