Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

摘要

BackgroundChromosomal duplication at the Xq28 region including the gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity.