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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Detalhes bibliográficos
Autor principal: Vieira, José Pedro (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2015
Assuntos:
Epigenetics
Epilepsy
Intellectual disability
Neurodevelopment
Ciências Médicas::Medicina Básica
Science & Technology
Texto completo:http://hdl.handle.net/1822/51352
País:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/51352

Texto Completo

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

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