Genetics Quiz#23 Disorders of Imprinting

 

Question 1 of 6

1. Question 1 A 6-month-old infant presents with poor muscle tone, failure to thrive, and feeding difficulties. Genetic testing reveals a deletion of a segment on chromosome 15. Which of the following syndromes is the infant most likely to have, based on the parent of origin effect? 

Question 1 of 6

Question 2 of 6

2. A 4-year-old girl is brought to the clinic by her parents due to concerns about her frequent laughing episodes, ataxia, and severe developmental delay. Genetic testing indicates a mutation involving chromosome 15. Which gene is most likely affected in this patient? 

Question 2 of 6

Question 3 of 6

3. Which of the following mechanisms best explains the occurrence of Prader-Willi Syndrome in 25% of cases? 

Question 3 of 6

Question 4 of 6

4. A child is diagnosed with a genetic disorder resulting from the absence of expression of paternal genes on chromosome 15. Which of the following findings is most likely associated with this condition? 

Question 4 of 6

Question 5 of 6

5. Which of the following is a common feature of both Prader-Willi Syndrome and Angelman Syndrome?

Question 5 of 6

Question 6 of 6

6. An 8-year-old boy is brought to the pediatrician by his parents due to their concerns about his excessive eating and constant feeling of hunger. An image of a patient with a similar condition is shown. The parents also report that the child has not reached the same developmental milestones as his peers and struggles with temper tantrums. Physical examination reveals the boy has short stature, small hands and feet, and hypotonia. Genetic testing was performed based on the clinical suspicion.

Question 6 of 6


 

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