Fragile X Syndrome Flashcards
0
Q
Meaningful words at 20th month
A
Pre pubertal sign
1
Q
Prominent forehead
A
Postpubertal sign
2
Q
80% penetrance
A
Male gender
3
Q
X linked dominant
A
Fragile x syndrome
4
Q
CAG repeats
A
Huntingtons disease
5
Q
Gene silencing
A
Hypermethylation
6
Q
Xq 27.3
A
Gene locus
7
Q
Premutation to full mutation
A
Female carrier
8
Q
Shermans paradox
A
2 step process
9
Q
55-230 repeats
A
Pre mutation
10
Q
> 230 CGG repeats
A
Full mutation
11
Q
FMRP
A
Produced by FMR1
12
Q
Mutated gene on X chromosome
A
FMR1 gene
13
Q
Mental retardation more pronounced
A
Male gender
14
Q
Myotonic dystrophy
A
PCR/CTG repeats
15
Q
Kilobases determined
A
Southern blotting
16
Q
Number of repeats determined
A
PCR/CTG repeats
17
Q
Uncle in the case
A
Fragile X carrier
18
Q
Behavioral therapy
A
Treatment for fragile X syndrome
19
Q
Trinucleotide repeats in FXS
A
CGG repeats
