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Uniparental Disomy, Imprinting and Prader-Willi Syndrome

Uniparental Disomy, Imprinting and Prader-Willi Syndrome. By Bill Fergus Jenn Butt. What is it?. Uniparental Disomy - the presence of two copies of a specific chromosome inherited from one parent, and no copies of the chromosome inherited from the other parent.

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Uniparental Disomy, Imprinting and Prader-Willi Syndrome

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  1. Uniparental Disomy, Imprinting and Prader-Willi Syndrome By Bill Fergus Jenn Butt

  2. What is it? • Uniparental Disomy - the presence of two copies of a specific chromosome inherited from one parent, and no copies of the chromosome inherited from the other parent. • Imprinting - The differential expression of alleles depending on the parent of origin • Prader-Willi syndrome is the result of a inheriting both copies from the mother and none from the father.

  3. What causes it? • 20-25% of patients were found to have uniparental disomy of chromosome 15 with two maternal chromosomes. • 75% of the patients with PWS have a microdeletion of paternal 15q11-q13 • Genetic contributions from both parents are necessary for normal development; PWS patients do not have a genetic contribution from the paternal side with respect to chromosome 15

  4. Phenotypical Results of Prader-Willi Syndrome • Obesity • Small Penis • Small hands and feet • Mental Retardation • Neurological problems • Overpowering desire to eat • Obsessive compulsive behaviors • Extreme mood swings

  5. Imprinting • Inheriting two chromosome 15s from the mother results in Prader-Willi Syndrome • Inheriting two chromosomes 15s from the father results in Angelman Syndrome

  6. Resources • http://www3.ncbi.nlm.nih.gov/Omim/ • Our Textbook

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