2 documents found, page 1 of 1
Genomic imbalances defining novel intellectual disability associated loci
Lopes, F; Torres, F; Soares, G; Barbosa, M; Silva, J; Duque, F; Rocha, M; Sá, J; Oliveira, G; Sá, MJ; Temudo, T; Sousa, S; Marques, C; Lopes, SBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
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, PRett 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 ...