Prader Willi Syndrome Research Paper

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Prader-Willi syndrome (PWS) was the first human disorder attributed to genomic imprinting. It is caused by the loss of function of genes in a particular region of chromosome 15. One copy of this chromosome is inherited from each parent. In most cases of PWS a segment of the paternal chromosome 15 is deleted in each cell." (Prader-Willi Syndrome). The genes on the paternal copy are turned on (active) while the genes on the maternal coy are turned off (inactive). Other cases of PWS the individual has "two copies of chromosome 15 inherited from his or her mother (maternal copies) instead of one copy from each parent." (Prader-Willi Syndrome). Most cases of Prader-Willi syndrome are not inherited; these genetic changes occur as random events during formation of the reproductive cells or in early embryonic development. Rarely, is this disease inherited from a parent. About 1 in 10,000 to 30,000 individuals have PWS. …show more content…
Weak muscle tone, feeding difficulties, poor growth, and delayed development are all characteristics of PWS in affected infants. Affected children develop an insatiable appetite, which generally leads to chronic overeating and obesity. Many individuals with this disease develop type 2 diabetes mellitus due to obesity. Individuals with this disease have learning disabilities and mild to moderate intellectual impairment. Behavioral problems and compulsive behavior such as picking at skin are common. Individuals may also have distinctive facial features that include narrow forehead, almond-shaped eyes, triangular mouth, short stature, small hands and feel, sleep issues, unusually fair skin and light-colored hair. Also, both affected sexes tend to have underdeveloped genitals and puberty is either delayed or incomplete. Many of these individuals are
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