PMID: 16506136Mar 1, 2006Paper

Williams syndrome: its clinical aspects and molecular bases

Revista de neurologia
Anna AntonellL A Pérez-Jurado

Abstract

Williams syndrome is a developmental disorder with an estimated prevalence of 1 in 7,500 newborns. Its phenotype is characterized by distinctive facial features, mild to moderate mental retardation and general cognitive deficits with a non-uniform profile, having problems in some areas (psychomotricity, visuospatial integration) and relative preservation of others (language, musicality), friendly personality, occasional hypercalcemia of infancy, and a vasculopathy with supravalvular aortic stenosis. Williams syndrome is caused by a submicroscopic deletion of 1.55 Mb in the chromosome band 7q11.23, which includes 26-28 genes. The mutational mechanism consists in a misalignment between regions of almost identical sequence and the subsequent unequal recombination. The reciprocal product of this rearrangement is the duplication of this region, causing a language specific disorder. Clinical-molecular correlations establishment through a good phenotypic characterization and the precise analysis of breakpoints in patients with atypical and typical deletions, altogether with the design of animal models and functional studies in vitro for the genes of the interval will be important to be able to determine the exact contribution of the g...Continue Reading

Related Concepts

Related Feeds

Basal Ganglia Cerebrovascular Disease

Basal ganglia cerebrovascular disease is a condition where the blood vessels in the basal ganglia are damaged or malfunction. Discover the latest research on basal ganglia cerebrovascular disease here.

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Related Papers

American Journal of Medical Genetics. Part a
Miguel Del Campo CasanellesLuis Alberto Pérez Jurado
American Journal of Medical Genetics
D Donnai, A Karmiloff-Smith
© 2021 Meta ULC. All rights reserved