Abnormal Imprinting Diseases

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4 Terms

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What are the two diseases caused by deletion of the long arm of the 15th Chromosome?

Prader-Willi Syndrome and Angelman Syndrome

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Prader-Willi Syndrome

Occurs when deletion is inherited from the father.

Manifests as: Short stature, hypotonia, small hands and feet, obesity, mentally challenged

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Angelman Syndrome

Occurs when deletion is inherited from the mother.

Manifests as: Severely mentally challenged, seizures, ataxic gait

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