Amy’s sister suffers from Bloom Syndrome, an autosomal reces…
Amy’s sister suffers from Bloom Syndrome, an autosomal recessive Mendelian disorder. Amy and her husband are considering having children and they want to know if they are carriers for Bloom Syndrome. Which of the following provides this information?
Read DetailsTuberous sclerosis is a rare disease that causes non-maligna…
Tuberous sclerosis is a rare disease that causes non-malignant tumors to grow in the brain and in other vital organs. Mutations in either the HMRT gene on chromosome 9 or the TBRN gene on chromosome 16 can cause tuberous sclerosis. This disease is an example of:
Read DetailsSandhoff disease is characterized by failure to thrive and p…
Sandhoff disease is characterized by failure to thrive and progressive deterioration of the nervous system and profound brain damage. Individuals with this disease are missing activity of a key enzyme. Without the enzyme, toxins accumulate and cause cell death and organ damage. Given this information, which is the most plausible genetic mechanism and impact on the protein?
Read DetailsStacey’s father has Late Onset Alzheimer’s Disease (AD), whi…
Stacey’s father has Late Onset Alzheimer’s Disease (AD), which is due to a number of different genetic and environmental factors, including an ApoE4 variant that dramatically increases the odds of developing AD. Which test is appropriate for Stacey?
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