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Prader–Willi syndrome - Wikipedia, the free encyclopedia

Prader–Willi syndrome is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. Characteristic of PWS is low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours, and a chronic feeling of hunger that can lead to excessive eating and obesity. The incidence of PWS is between 1 in 25000-10000 live births.

Prader-Willi syndrome (hypothalamic hypogonadism, learning disabilities; behavioral features in childhood include temper tantrums, high pain threshold, sleep disturbances, and skin picking)

Sequencing studies help pinpoint gene in Prader-Willi Syndrome (via Baylor college of Medicine). Also here (subscription required): http://www.nature.com/ng/journal/vaop/ncurrent/ng.2776/metrics and http://www.eurekalert.org/pub_releases/2013-09/bcom-ssh092413.php

This conceptual image differentiates normal chromosome 15s from Prader-Willi Syndrome and from Angelman Syndrome.

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