Angelman Syndrome

15 Points Per Correct Answer - No time limit  

1. Who was the pioneer in the discovery of Angelman syndrome? Dr. Harry Angelman Gregor Mendel Dr. Howard M. Forrester Dr. Elijah Hewlett

2. Angelman syndrome was first referred to as: Cinderella syndrome All Saint's syndrome Hewlett's disorder Happy Puppet syndrome

3. What Disney character was thought by some to have been modeled after someone with Angelman syndrome? Answer: (One Word)

4. What is the hallmark manifestation of Angelman syndrome? somnolence having good behavior having a lack of speech being non-ambulatory

5. Which chromosome is affected in Angelman syndrome? Answer: (one word or number)

6. What is considered the sister disorder of Angelman syndrome? Dyscalculia Cherub disease Prader-Willi syndrome Huntington disease

7. What is the most common genetic transmission of Angelman syndrome? Deletion positive Trisomy UPD Translocation

8. What does the abbreviation "UPD" represent? uniparental disomy ubiquitous patterned disorder unified paternal distortion usurian parsimile deletion

9. Which of the following is a common characteristic of Angelman syndrome? lack of hair growth abnormal fascination with water closely spaced teeth excessive interest in bright light

10. Which of the following would be considered common to the facies of individuals with Angelman syndrome? flat facial profile prognathism cryptorchidism atresia choanae

11. Which of the following is the closest estimate of the prevalence of Angelman syndrome? 1 in 100,000 1 in 15,000 1 in 50,000 1 in 500,000

12. Using an MRI or CT Scan, normal brain structure can be found in individuals with Angelman syndrome. True False

13. Which of the following is a genetic test used to determine whether or not an individual has Angelman syndrome? TREE FISH CAT PAPA

14. In North America, which race has the highest incidence of Angelman syndrome? Black Native American There is no difference among races. White

15. Angelman syndrome is commonly misdiagnosed as which of the following? Cystic fibrosis Down syndrome Cerebral palsy Fragile X syndrome