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Variant Rett Syndrome in a Girl with a Pericentric X-Chromosome Inversion Leadi...

Vieira, JP; Lopes, F; Silva-Fernandes, A; Sousa, MV; Moura, S; Sousa, S; Costa, BM; Barbosa, M; Ylstra, B; Temudo, T; Lourenço, T; Maciel, P

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 cytobands where the MECP2 and CDKL5 genes are located. FISH analysis revealed that the MECP2 gene is not dislocated ...

Date: 2015   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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Osteomielite Crónica Não Bacteriana Unifocal da Mandíbula

Sousa, MV; Malheiro, R; Farela Neves, J; Varandas, L; Conde, M

Date: 2014   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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