SINDROME PRADER WILLI PDF

A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age. People with Prader-Willi syndrome want to eat constantly because they never feel full hyperphagia , and they usually have trouble controlling their weight. Many complications of Prader-Willi syndrome are due to obesity. Best managed by a team approach, various specialists can work with you to manage symptoms of this complex disorder, reduce the risk of developing complications and improve the quality of life for your loved one with Prader-Willi syndrome. Symptoms Signs and symptoms of Prader-Willi syndrome can vary among individuals. Symptoms may slowly change over time from childhood to adulthood.

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Causes Prader-Willi syndrome is caused by the loss of function of genes in a particular region of chromosome People normally inherit one copy of this chromosome from each parent. This parent-specific gene activation is caused by a phenomenon called genomic imprinting. Most cases of Prader-Willi syndrome about 70 percent occur when a segment of the paternal chromosome 15 is deleted in each cell. People with this chromosomal change are missing certain critical genes in this region because the genes on the paternal copy have been deleted, and the genes on the maternal copy are turned off inactive.

In another 25 percent of cases, a person with Prader-Willi syndrome has two copies of chromosome 15 inherited from his or her mother maternal copies instead of one copy from each parent. This phenomenon is called maternal uniparental disomy.

Rarely, Prader-Willi syndrome can also be caused by a chromosomal rearrangement called a translocation , or by a mutation or other defect that abnormally turns off inactivates genes on the paternal chromosome It appears likely that the characteristic features of Prader-Willi syndrome result from the loss of function of several genes on chromosome These molecules have a variety of functions, including helping to regulate other types of RNA molecules. RNA molecules play essential roles in producing proteins and in other cell activities.

However, it is unknown how a missing SNORD cluster could contribute to intellectual disability, behavioral problems, and the physical features of the disorder. In some people with Prader-Willi syndrome, the loss of a gene called OCA2 is associated with unusually fair skin and light-colored hair.

The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this disorder. The protein produced from this gene helps determine the coloring pigmentation of the skin, hair, and eyes. Researchers are studying other genes on chromosome 15 that may also be related to the major signs and symptoms of this condition.

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Prader-Willi syndrome

Avviene per due diverse cause accertate, entrambe di tipo genetico: Delezione di una regione, totale o parziale, sul cromosoma 15 di origine paterna. Disomia uniparentale materna: presenza di due copie di origine materna su entrambi i cromosomi 15, risultando entrambe inattive anche se possono essere uguali o diverse. Per ogni gene abbiamo una copia proveniente dal padre e una dalla madre. Queste sono leggermente diverse tra di loro, come fenomeno del polimorfismo , ma codificano entrambe per la stessa proteina.

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Syndrome de Prader-Willi

Causes Prader-Willi syndrome is caused by the loss of function of genes in a particular region of chromosome People normally inherit one copy of this chromosome from each parent. This parent-specific gene activation is caused by a phenomenon called genomic imprinting. Most cases of Prader-Willi syndrome about 70 percent occur when a segment of the paternal chromosome 15 is deleted in each cell.

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