8: Fragile X Syndrome Flashcards Preview

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

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

Name clinical presentations for fragile X (6).

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

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

Up to 200.
More than 200.

3

High risk populations for fragile X (3).

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

4

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

1. Ritalin
2. Dexedrine
3. Clonidine

5

What causes the problems in fragile X?

Absence of FMR1 protein production.

6

Do males or females have milder symptoms of fragile X?

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

7

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

True

8

What is the average age of diagnosis (2)?

1. Males: 36 months
2. Females: 42 months

9

The X gene has a unique, _____ expansion.

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

Where is the mutation in fragile X?

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

11

Why might females have milder symptoms?

They have 2 X chromosomes.