8: Fragile X Syndrome Flashcards Preview

Simmons NURP 503 Exam 3 > 8: Fragile X Syndrome > Flashcards

Flashcards in 8: Fragile X Syndrome Deck (11)
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1
Q

Name clinical presentations for fragile X (6).

A
  1. Long and protruding ears
  2. Long, thin face with prominent jaw
  3. Epicanthal folds
  4. High-arched palate
  5. Increased head circumference
  6. Large testes
2
Q

Normal people have 6-50 FMR1 gene repeats. Carriers have _____. Significantly affected people have _____.

A

Up to 200.

More than 200.

3
Q

High risk populations for fragile X (3).

A
  1. Children with IDD of unknown etiology.
  2. Children with family hx of IDD.
  3. Persons diagnosed with autism spectrum disorder.
4
Q

What medications can be used for behavior problems (3)?

A
  1. Ritalin
  2. Dexedrine
  3. Clonidine
5
Q

What causes the problems in fragile X?

A

Absence of FMR1 protein production.

6
Q

Do males or females have milder symptoms of fragile X?

A

Females. Affects both sexes, but females have milder symptoms (likely d/t more than 1 X chromosome).

7
Q

T/F Estimated 1:5,000 are born with fragile X.

A

True

8
Q

What is the average age of diagnosis (2)?

A
  1. Males: 36 months

2. Females: 42 months

9
Q

The X gene has a unique, _____ expansion.

A

Trinucleotide. Everyone has FMR1, but when the repeat expansion increases in size, it causes silencing of the gene. This leads to a deficiency or lack of the FMR1 protein.

10
Q

Where is the mutation in fragile X?

A

Fragile MR 1 (FMR) gene located at Xq27.3

11
Q

Why might females have milder symptoms?

A

They have 2 X chromosomes.