Website
65
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Julie Morris. Medical statistics
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66
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EMQ. Fragile
X syndrome
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67
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Role-play Fragile
X syndrome
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65. Julie Morris. Medical statistics.
66. Fragile X Syndrome.
Fragile X syndromeAbbreviations.
FXS: Fragile
X syndrome
TR: trinucleotide
repeat
Question 1.
Lead-in
Which, if
any, of the following are features of FXS in males?
Option List
A.
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autism
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B.
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epilepsy
|
C.
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hyper-extensible joints
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D.
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learning difficulty
|
E.
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post-pubertal
macroorchidism
|
Question 2.
Lead-in
Which, if
any, of the following are features of FXS in females?
Option List
A.
|
autism
|
B.
|
epilepsy
|
C.
|
hyper-extensible joints
|
D.
|
learning
difficulty
|
E.
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post-pubertal ovarian enlargement
|
Question 3.
Lead-in
Why are
women thought to be less affected by FXS than men?
Option List
A.
|
two X
chromosomes dilute the effect of affected X chromosome
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B.
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leonisation
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C.
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lionisation
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D.
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lyonisation
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E.
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none of the above
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Question 4.
Lead-in
How common
is FXS in males?
Option List
A.
|
1 in
1,000
|
B.
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1 in 4,000
|
C.
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1 in 8,000
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D.
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1 in 20,000
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E.
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1 in 100.000
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Question 5.
Lead-in
How common
is FXS in females?
Option List
A.
|
1 in
1,000
|
B.
|
1 in 4,000
|
C.
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1 in 8,000
|
D.
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1 in 20,000
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E.
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1 in 100.000
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Question 6.
Lead-in
Which gene
is implicated in the causation of FXS?
Option List
A.
|
fragile
X mental retardation 1
|
B.
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fragile X mitochondrial recognition 1
|
C.
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fragile X 1
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D.
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the gene has not yet been identified
|
E.
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none of the above
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Question 7.
Lead-in
Which is
the leading hereditary cause of learning difficulty?
Option List
A
|
Down’s
syndrome
|
B
|
fragile X syndrome
|
C
|
galactosaemia
|
D
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homocystinuria
|
E
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phenylketonuria
|
Question 8.
Lead-in
Which is
the most common genetic cause of autism?
Option List
A.
|
Down’s
syndrome
|
B.
|
fragile X syndrome
|
C.
|
galactosaemia
|
D.
|
homocystinuria
|
E.
|
phenylketonuria
|
Question 9.
Lead-in
Which mode
of inheritance occurs with FXS?
Option List
A.
|
autosomal
dominant
|
B.
|
autosomal recessive
|
C.
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X-linked dominant
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D.
|
X-linked recessive
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E.
|
none of the above
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Question 10.
Lead-in
What is
the story about trinucleotide repeats and FXS. What are TRs? Which TRs are
involved with FXS? How are TRs categorised in relation to FXS?
There is no option list – just write your answers.
Question 11.
Lead-in
What is
the FXS premutation? What are its key associations?
There is no option list – just write your answers.
Candidate’s instructions.
You are a 5th. year SpR. It
is a quiet day on the labour ward. There is a FY1 working on the labour ward
who is keen to be an obstetrician. Your consultant is keen on teaching and has
asked you to instruct the FY1 on the subject of Fragile X syndrome and linked
issues.
FY1’s instructions.
You are a FY1 and very keen to be an
obstetrician. You are eager to learn everything pertinent to the role, but have
not heard of Fragile X syndrome.
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