Sindrome di williams pdf

Pdf educazione speciale per sindromi a base genetica. Viene anche chiamata sindrome della ipercalcemia idiopatica o sindrome di. Viene anche chiamata sindrome della ipercalcemia idiopatica o sindrome di williamsbeuren, dal nome dei due medici che per primi lo hanno descritta. Williams syndrome is a developmental disorder with an estimated prevalence of 1 in 7,500 newborns.

Sempre di buon umore, trasmette buon n lui accanto non manca mai il sorriso. Williams syndrome ws is a genetically based disorder caused by deletion of elastin and contiguous genes on chromosome 7q11. Williams syndrome ws is considered one of the rare or uncommon diseases. This genetic alteration affects the development and operation of the central nervous system. The williamsbeuren syndrome wbs is a disease of genetic etiology, caused by microdeletions in region 7q1123. Williams, che per primo ne descrisse i sintomi intorno al 1960. The williams beuren syndrome wbs is a disease of genetic etiology, caused by microdeletions in region 7q1123. The main clinical characteristics of the syndrome are typical facial dysmorphology, congenital heart disease, and friendly personality. Its phenotype is characterized by distinctive facial features, mild to moderate mental retardation and general cognitive deficits with a nonuniform profile, having problems in some areas psychomotricity, visuospatial integration and. Williams delinea le caratteristiche cliniche della sindrome.

The mutational mechanism consists in a misalignment between regions of almost identical sequence and the subsequent unequal recombination. Mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing and fewer problems with. Williams syndrome is caused by a submicroscopic deletion of 1. Files are available under licenses specified on their description page. Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as elfin. Williams syndrome ws is a genetic disorder that affects many parts of the body.