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Quiz about Angelman Syndrome
Quiz about Angelman Syndrome

Angelman Syndrome Trivia Quiz


This quiz is about the rare genetic disorder Angelman syndrome. By taking this quiz, you will learn about a disorder which you most likely know nothing about.

A multiple-choice quiz by weloveum. Estimated time: 6 mins.
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Author
weloveum
Time
6 mins
Type
Multiple Choice
Quiz #
131,794
Updated
Dec 03 21
# Qns
15
Difficulty
Difficult
Avg Score
7 / 15
Plays
1022
- -
Question 1 of 15
1. Who was the pioneer in the discovery of Angelman syndrome? Hint


Question 2 of 15
2. Angelman syndrome was first referred to as: Hint


Question 3 of 15
3. What Disney character was thought by some to have been modeled after someone with Angelman syndrome?

Answer: (One Word)
Question 4 of 15
4. What is the hallmark manifestation of Angelman syndrome? Hint


Question 5 of 15
5. Which chromosome is affected in Angelman syndrome?

Answer: (one word or number)
Question 6 of 15
6. What is considered the sister disorder of Angelman syndrome? Hint


Question 7 of 15
7. What is the most common genetic transmission of Angelman syndrome? Hint


Question 8 of 15
8. What does the abbreviation "UPD" represent? Hint


Question 9 of 15
9. Which of the following is a common characteristic of Angelman syndrome? Hint


Question 10 of 15
10. Which of the following would be considered common to the facies of individuals with Angelman syndrome? Hint


Question 11 of 15
11. Which of the following is the closest estimate of the prevalence of Angelman syndrome? Hint


Question 12 of 15
12. Using an MRI or CT Scan, normal brain structure can be found in individuals with Angelman syndrome.


Question 13 of 15
13. Which of the following is a genetic test used to determine whether or not an individual has Angelman syndrome? Hint


Question 14 of 15
14. In North America, which race has the highest incidence of Angelman syndrome? Hint


Question 15 of 15
15. Angelman syndrome is commonly misdiagnosed as which of the following? Hint



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Quiz Answer Key and Fun Facts
1. Who was the pioneer in the discovery of Angelman syndrome?

Answer: Dr. Harry Angelman

Dr. Harry Angelman first described Angelman syndrome in 1965.
2. Angelman syndrome was first referred to as:

Answer: Happy Puppet syndrome

Angelman syndrome was first called Happy Puppet syndrome due to the characteristic of individuals with this disorder moving like a marionette.
3. What Disney character was thought by some to have been modeled after someone with Angelman syndrome?

Answer: Dopey

Dopey's characteristics of not speaking, having a small head, having a happy demeanor, and moving like a marionette are all common manifestations of Angelman syndrome.
4. What is the hallmark manifestation of Angelman syndrome?

Answer: having a lack of speech

Typically, individuals with Angelman syndrome have no or minimal verbal language. Receptive language is much greater than expressive.
5. Which chromosome is affected in Angelman syndrome?

Answer: 15

Although there are four types of transmissions, chromosome 15 is always involved in the transmission of Angelman syndrome.
6. What is considered the sister disorder of Angelman syndrome?

Answer: Prader-Willi syndrome

The fifteenth chromosome is also affected in Prader-Willi, but the transmission and the manifestations are different. The difference in transmission is that as opposed to the maternal part of chromosome being affected in Angelman syndrome, the paternal contribution is affected in Prader-Willi. Common characteristics of Prader-Willi include a short stature, obesity, mental retardation, and behavior problems.
7. What is the most common genetic transmission of Angelman syndrome?

Answer: Deletion positive

The most common transmission of Angelman syndrome, occurring in 80% of cases, results from a deletion in chromosome #15q11-13(maternal). A deletion occurs when a portion of the genes on a chromosome are missing.
8. What does the abbreviation "UPD" represent?

Answer: uniparental disomy

UPD refers to the genetic transmission of uniparental disomy-two copies of one parent's chromosome, and none from the other.
9. Which of the following is a common characteristic of Angelman syndrome?

Answer: abnormal fascination with water

An interesting characteristic of most individuals with Angelman syndrome is fascination with water, which leads to an increased risk of drowning.
10. Which of the following would be considered common to the facies of individuals with Angelman syndrome?

Answer: prognathism

Prognathism is abnormal forward projection of the jaw.
11. Which of the following is the closest estimate of the prevalence of Angelman syndrome?

Answer: 1 in 15,000

Different studies have produced results from 1 in 10,000 to 1 in 20,000.
12. Using an MRI or CT Scan, normal brain structure can be found in individuals with Angelman syndrome.

Answer: True

Although the structure of the brain is normal, it does not carry out all of its functions correctly.
13. Which of the following is a genetic test used to determine whether or not an individual has Angelman syndrome?

Answer: FISH

FISH, or fluorescent in situ hybridization, detects a deletion on chromosome 15. It is much more specific and more helpful in detecting Angelman syndrome than the typical chromosome test (a karyotype).
14. In North America, which race has the highest incidence of Angelman syndrome?

Answer: White

There have been reports of Angelman syndrome all around the world and in many different races. In North America, though, the largest portion of individuals with Angelman syndrome are of the white race.
15. Angelman syndrome is commonly misdiagnosed as which of the following?

Answer: Cerebral palsy

Common characteristics of cerebral palsy which are also common in Angelman syndrome include a happy affect, ataxia (impared ability to coordinate movement), and feeding difficulty. There are currently massive efforts to make everyone, both health-care professionals and lay people, familiar with Angelman syndrome. If you would like to learn more about Angelman syndrome, visit www.angelman.org
Source: Author weloveum

This quiz was reviewed by FunTrivia editor crisw before going online.
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