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27 August, 08:33

You are a geneticist studying prader-willi syndrome. which chromosome do you focus on? you are a geneticist studying prader-willi syndrome. which chromosome do you focus on? 6 22 11 15

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  1. 27 August, 10:27
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    The Prader-Willi syndrome (PWS) is due to the lack of expression of paternal genes of the 15q11-q13 region. It usually occurs sporadically, although some family cases have been described (<1%). Approximately 70% of cases are produced by deletions of paternal origin in the 15q11-q13 region. 28% of cases are due to maternal uniparental disomy and less than 2% are caused by imprinting alterations. A geneticist studying prader-willi syndrome should focus on chromosome 15, its structure or changes in the number, these anomalies are also related to other syndromes such as: Bloom Syndrome, Breast cancer, Isovaleric acidity among others.
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