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, JP (author)
Outros Autores: Lopes, F (author), Silva-Fernandes, A (author), Sousa, MV (author), Moura, S (author), Sousa, S (author), Costa, BM (author), Barbosa, M (author), Ylstra, B (author), Temudo, T (author), Lourenço, T (author), Maciel, P (author)
Formato: article
Idioma:eng
Publicado em: 2015
Assuntos:
Epilepsy
Neurodevelopmental
Epigenetics
Intellectual Disability
Rett Syndrome
Child
HDE NEU PED
Texto completo:http://hdl.handle.net/10400.17/2303
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/2303

Texto Completo

http://hdl.handle.net/10400.17/2303

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