All of the following are examples of uniparental disomy except
Correct Answer: Bloom syndrome
Description: Bloom syndrome is an inherited disorder characterized by sho stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from bih, and they rarely exceed 5 feet tall in adulthood. Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes. Ref-Harpers illustrated biochemistry 30/e p268
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Biochemistry
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