2 documents found, page 1 of 1
Genomic haploinsufficiency resulting from microdeletion involving 13 genes mapp...
Medina-Acosta, Enrique; da Silva, Antonio Francisco Alves; Campos Fernandes, Regina Célia de SouzaIntroduction: Williams-Beuren syndrome is a neurodevelopmental disorder that impacts multiple systems. The most frequent cause of Williams-Beuren syndrome is a submicroscopic deletion (0.2Mb to 2.5Mb) at 7q11.23 in the long arm of chromosome 7. The genetic condition hallmarking affected individuals is the genomic haploinsufficiency determined by the hemizygosity of contiguous genes. The genetic diagnosis cannot...
Molecular diagnosis of Duchenne muscular dystrophy
Sarlo, Laís Gomes; da Silva, Antonio Francisco Alves; Medina-Acosta, EnriqueDuchenne muscular dystrophy is the most frequent recessive X-linked genetic disease in humans, affecting 1 in 3500 born males. It is caused by mutations in the DMD gene, localized in the Xp21.2- Xp21.1 chromosomal region, which codes for dystrophin, a cytoskeleton protein found in the inner surface of muscle fibers. Pathogenic mutations are heterogeneous in nature and a considerably large number has been descri...