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Prader-willi syndrome - Article Example

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It is caused by uniparental disomy as a result of failure of expression of paternally inherited genes of chromosome 15. Physical signs and symptoms include distinctive facial features with narrow bifrontal diameter, up…
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Prader-willi syndrome
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Prader-willi syndrome

ort stature, temperature dys-regulations, osteoporosis, scoliosis, growth hormone insufficiency (Cassidy and Driscoll, 2009), mental retardation, developmental disabilities, high pain threshold, skin picking(Yearwood etal., 2011) and behavioral characteristics such as compulsive behavior, psychiatric disorders and cognitive delays. Neonatal and infants show lethargy, poor reflexes, feeding, sucking problems and poor weight gain.
PWS has an incidence of 1 in 10,000-29,000 people worldwide (Yearwood et al., 2011) while in U.S. its occurrence is reported to be1 per 16,000-25,000 population (Butler, 1996). It is prevalent in all races and both genders. Cassidy and Driscoll (2009) have reported an estimated death rate of 3% per year in a population study. Research suggests frequent causes of death in PWS patients (approx 60%) are cardiovascular disorders and stroke along with complications related to obesity, respiratory disorders, shock pneumonia and hypoventilation (Yearwood et al., 2011).
PWS is a consequence of abnormalities of imprinted region of proximal 15q. Research suggests an uncertain relationship between genetics and clinical signs of PWS. It can arise from either paternal or maternal factors however; around 70% of the cases are attributed to paternal inheritance involving a missing gene from chromosome 15 in areas of 15q11-q13. 20% of the cases occur due to maternal uniparental disomy i.e. inaccurate inheritance of two copies of chromosome 15 from the mother. Rest of the cases (3-5%) is considered to be caused either by mutation in imprinting process (Cassidy, 1997) or a rearrangement in structure of chromosome (Yearwood et al., 2011).
For accurate diagnosis of PWS genetic testing is recommended. These include FISH (fluorescence in situ hybridization) which identifies deletions, translocations, chromosomal alterations etc, High resolution chromosomal analysis test which is helpful in detection of chromosomal deletions, abnormalities, translocations and ... Read More
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