Website
16 May 2019 
| 
13 | 
EMQ. Hepatitis B | 
| 
14 | 
EMQ. G6PDD & G6PD | 
| 
15 | 
EMQ. Kell antibodies | 
| 
16 | 
EMQ.
  Fragile X syndrome | 
| 
17 | 
Viva. Mayer-Rokitansky-KΓΌster-Hauser syndrome | 
13. Hepatitis
B and pregnancy.
 Lead-in.
These
scenarios relate to hepatitis and pregnancy.
Instructions.
For each
scenario, select the most appropriate option from the option list. 
Each option
can be used once, more than once or not at all.
Abbreviations.
HAV:          hepatitis
A virus
HBcAg:      hepatitis
B core antigen
HBeAg:      hepatitis
B e antigen            
HBsAg:      hepatitis
B surface antigen
HBcAb:      antibody
to hepatitis B core antigen
HBeAb:     antibody
to hepatitis B e antigen
HBsAb:      antibody
to hepatitis B surface antigen
HBIG:         hepatitis
B immunoglobulin
HBV:          hepatitis
B virus
HBcAg:      hepatitis
B core antigen
HBeAg:      hepatitis
B e antigen            
HBsAg:      hepatitis
B surface antigen
HBcAb:      antibody
to hepatitis B core antigen
HBeAb:     antibody
to hepatitis B e antigen
HBsAb:      antibody
to hepatitis B surface antigen
HBIG:         hepatitis
B immunoglobulin
HCV:          hepatitis
C virus
HEV:          hepatitis
E virus
HSV:           herpes
simplex virus
VT:             vertical
transmission
Option list. 
| 
A.     
   | 
acyclovir   | 
| 
B.     
   | 
divorce | 
| 
C.     
   | 
HBcAg +ve | 
| 
D.    
   | 
HBeAg +ve | 
| 
E.     
   | 
HbsAg +ve | 
| 
F.      
   | 
HBsAg +ve;
  HBsAb –ve;  HBcAb –ve; HBeAg +ve | 
| 
G.    
   | 
HBsAg +ve;
  HBsAb –ve on two tests six months apart | 
| 
H.    
   | 
HBsAg -ve;
  HBsAb -ve on two tests six months apart | 
| 
I.       
   | 
HBsAg -ve;
  HBsAb +ve; HBcAb –ve | 
| 
J.       
   | 
HBsAg -ve;
  HBsAb +ve; HBcAb +ve | 
| 
K.     
   | 
HBsAg -ve;
  HBsAb +ve | 
| 
L.      
   | 
HBsAg +ve;
  HBcAg +ve | 
| 
M.  
   | 
HBV vaccine | 
| 
N.    
   | 
HBIG | 
| 
O.    
   | 
HBV vaccine
  + HBIG | 
| 
P.     
   | 
immune as a result
  of infection | 
| 
Q.    
   | 
immune as a
  result of vaccination | 
| 
R.     
   | 
not immune | 
| 
S.      
   | 
chronic
  carrier of HBV infection | 
| 
T.     
   | 
10% | 
| 
U.    
   | 
30% | 
| 
V.     
   | 
50% | 
| 
W.  
   | 
60% | 
| 
X.     
   | 
70-90% | 
| 
Y.     
   | 
soap and
  boiling water | 
| 
Z.      
   | 
10% dilution
  of bleach in water | 
| 
AA.
   | 
10% dilution
  of formaldehyde in alcohol | 
| 
BB. 
   | 
ultraviolet
  irradiation | 
| 
CC. 
   | 
yes | 
| 
DD. | 
no | 
| 
EE. 
   | 
HAV | 
| 
FF.  
   | 
HBV | 
| 
GG.                       
   | 
HCV | 
| 
HH.                       
   | 
HEV | 
| 
II.     
   | 
HSV | 
| 
JJ.    
   | 
none of the
  above | 
Scenario 1.
An
asymptomatic primigravida books at 10 weeks. Her partner had an acute HBV
infection 4 months ago. What results on routine blood testing would indicate
that she has an acute HBV infection?
Scenario 2.
An
asymptomatic primigravida books at 10 weeks. Her partner had an acute HBV
infection 4 months ago. What results on routine blood testing would indicate
that she is immune to the HBV as a result of infection?
Scenario 3.
An
asymptomatic primigravida books at 10 weeks. Her partner had an acute HBV
infection 4 months ago. What results on routine blood testing would indicate
that she is immune to the HBV as a result of HBV vaccine?
Scenario 4.
An
asymptomatic primigravida books at 10 weeks. Her partner had an acute HBV
infection 9 months ago. What results on routine blood testing would show that
she is a chronic carrier of HBV infection?
Scenario 5.
Testing shows
that he is positive for HBsAg, positive for HBcAb but negative for IgM HBcAb.
What does this mean in relation to his HBV status?
Scenario 6.
Testing shows
that he is negative for HBsAg, positive for HBcAb and positive for HBsAb. 
What does this
mean in relation to his HBV status?
Scenario 7.
How
common is chronic HBV carrier status in UK pregnant women?
Scenario 8.
What
is the risk of death from chronic HBV carrier status?
Scenario 9.
A
primigravid woman at 8 weeks gestation is found to be non-immune to HBV. She
has recently married and her husband is a chronic carrier. What should be done
to protect her from infection?
Scenario 10.
A
woman is a known carrier of HBV. What is the risk of vertical transmission in
the first trimester?
Scenario 11.
What
is the risk of the neonate who has been infected by vertical transmission
becoming a carrier without treatment?
Scenario 12.
Should
antiviral maternal therapy in the 3rd. trimester be considered for
women with HBeAg or high viral load? 
Scenario 13.
How
effective is hepatitis B prophylaxis for the neonate in preventing chronic
carrier status as a result of vertical transmission? 
Scenario 14.
Can
a woman who is a chronic HBV carrier breastfeed safely?
Scenario 15.
Hepatitis B
infection is the most dangerous of the viral hepatitis infections in pregnancy.
Scenario 16.
A
pregnant woman who is not immune to HBV has a partner who is a chronic carrier.
Can HBV vaccine be administered safely in pregnancy?
Scenario 17.
A
pregnant woman who is not immune has a partner with acute hepatitis due to HBV.
He cuts his hand and bleeds onto the kitchen table. How should she clean the
surface to ensure that she gets rid of the virus?
Scenario 18.
Is it true
that the presence of HBeAg in maternal blood is a particular risk factor for
vertical transmission? Not really a scenario, but never mind!
Scenario 19.
Does
elective Cs before labour and with the membranes intact reduce the vertical
transmission rate?
Scenario 20.
Which
hepatitis virus normally produces a mild illness, but represents a major risk
to pregnant women, with a mortality rate of up to 5%?
Scenario 21.
A
pregnant woman has a history of viral hepatitis and informs the midwife at
booking that she is a carrier and that she has a significant risk of cirrhosis
and has been advised not to drink alcohol. Which is the most likely hepatitis
virus?
Scenario 22.
Which
hepatitis virus is an absolute contraindication to breastfeeding after
appropriate treatment of the infected mother and prophylaxis for the baby?
Scenario 23.
Which
hepatitis virus is linked to an increased risk of obstetric cholestasis?
14. Glucose-6-phosphate
dehydrogenase deficiency.
Abbreviations.
G6PD:              glucose-6-phosphatase
deficiency
G6PDD:           glucose-6-phosphate
dehydrogenase deficiency           
Scenario
1.           
  
What is G6PDD? There is no
option list.
Scenario
2.           
  
What categories are applied to
G6PDD by the WHO? There is no option list.
Scenario
3.           
  
What other names are commonly
used for G6PDD? There is no option list.
Scenario
4.           
  
Which, if any, of the following
statements are true in relation to G6PDD?
Option list.
| 
A | 
it is the most common enzyme
  defect in humans | 
| 
B | 
it is the most common
  RBC enzyme defect in humans | 
| 
C | 
it is the most common
  cause of neonatal jaundice | 
| 
D | 
it is the most common
  cause of sickling crises | 
| 
E | 
is a glycogen storage
  disorder | 
| 
F | 
most of those with G6PDD
  have chronic anaemia | 
Scenario
5.           
  
Approximately how many people
are affected by G6PDD worldwide?
Option list.
| 
A | 
1,000 million | 
| 
B | 
800 million | 
| 
C | 
600 million | 
| 
D | 
400 million | 
| 
E | 
100 million | 
| 
F | 
50 million | 
| 
G | 
20 million | 
| 
H | 
10 million | 
| 
I | 
none of the above | 
Scenario
6.           
  
Which population has the
highest prevalence of G6PDD?
Option list.
| 
A | 
American Amish | 
| 
B | 
Asians | 
| 
C | 
Ashkenazi Jews | 
| 
D | 
Eskimos | 
| 
E | 
Irish Travellers | 
| 
F | 
Kurdistan Jews | 
| 
G | 
Sub-Saharan Africans | 
| 
H | 
Turks | 
| 
I | 
Uzbekistan albinos | 
| 
J | 
None of the above | 
Which, if any, of the following is the mode of inheritance
of G6PDD?
Option list.
| 
A | 
autosomal dominant | 
| 
B | 
autosomal recessive | 
| 
C | 
mitochondrial pattern | 
| 
D | 
X-linked dominant | 
| 
E | 
X-linked recessive | 
| 
F | 
Y-linked | 
Scenario 8.           
  
Approximately how many mutations of the G6PDD gene have
been identified? There is no option list.
Scenario 9.           
  
Which, if any, of the following is the mode of inheritance
of G6PD?
Option list.
| 
A | 
autosomal dominant | 
| 
B | 
autosomal recessive | 
| 
C | 
mitochondrial pattern | 
| 
D | 
X-linked dominant | 
| 
E | 
X-linked recessive | 
| 
F | 
Y-linked | 
Scenario
10.       
  
Which foodstuff can trigger
haemolysis in G6PDD and gives us one of the alternative names for the
condition? What is the common name for the foodstuff? Which pest particularly
attacks it? There is no option list.
Scenario
11.       
  
Which, if any, of the following
drugs may cause haemolysis in those with G6PDD?
Option list.
| 
A | 
aspirin | 
| 
B | 
diphenhydramine | 
| 
C | 
nalidixic acid | 
| 
D | 
nitrofurantoin | 
| 
E | 
paracetamol | 
| 
F | 
phenytoin | 
| 
G | 
sulphamethoxazole | 
| 
H | 
trimethoprim  | 
15. EMQ. Kell antibodies.
Kell antibodies
& pregnancy.
Abbreviations.
∆OD450:      spectrophotometric
measurement of deviation in optical density at wavelength 450 nm.
FMM:         feto-maternal medicine
HDFN:        haemolytic disease of
the fetus and newborn.
MCAPSV:   middle cerebral artery
peak systolic velocity.
RBC:           red blood cell.
Scenario 12.          
  
Which, if any, of the following alloantibodies is the most common cause
of HDFN?
Option list.
| 
A | 
anti-D | 
| 
B | 
anti-C | 
| 
C | 
anti-c | 
| 
D | 
anti-e | 
| 
E | 
Duffy: Fya  | 
| 
F | 
Duffy: Fyb | 
| 
G | 
Kell | 
| 
H | 
Kidd: Jka | 
| 
I | 
Kidd: Jkb | 
Scenario 13.          
  
Which, if any, of the following alloantibodies is the 2nd. most
common cause of HDFN?
Option list. Use the option
list from Scenario 1.
Scenario 14.          
  
Which, if any, of the following alloantibodies is the 3rd. most
common cause of HDFN?
Option list. Use the option
list from Scenario 1.
Scenario 15.          
  
Which of the following statements is true in relation to the Kell
antigen?
Option list.
| 
A | 
it is named after Mrs. Kelleher who was found to have antibodies to it
  in 1946 | 
| 
B | 
it is named after Gene Kelly, the American actor, dancer and singer as
  the research group who found the antigen were big fans | 
| 
C | 
there are > 50 significant variants of the Kell antigen | 
| 
D | 
Kell antibodies are mainly IgA | 
| 
E | 
Kell antibodies are mainly IgM | 
| 
F | 
none of the above | 
Scenario 16.          
  
What proportion of the Caucasian population is K +ve?
Option list.
| 
A | 
1% | 
| 
B | 
5% | 
| 
C | 
9% | 
| 
D | 
15% | 
| 
E | 
25% | 
| 
F | 
33% | 
| 
G | 
57% | 
| 
H | 
none of the above | 
Scenario 17.          
  
The Kell antigen can be detected using cell-free fetal DNA in maternal
serum.  True / False.
Scenario 18.          
  
Anti-K is thought to occur mainly as a result of feto-maternal transfusion
of Kell +ve cells during pregnancy and delivery. True / False.
Scenario 19.          
  
Kell HDFN resulting from transfusion of Kell +ve  blood is thought to produce more severe HDFN
than that resulting from feto-maternal transfusion. True / False.
Scenario 20.          
  
The Kell antigen can be detected using cell-free fetal DNA in maternal
serum.  True / False.
Scenario 21.          
  
Which of the following statements is true in relation to anti-Kell
antibodies in a Kell-negative mother with a Kell +ve pregnancy?
Option list.
| 
A | 
HDND is mainly due to haemolysis of fetal RBC | 
| 
B | 
HDND is mainly due to haemolysis of fetal & neonatal RBC | 
| 
C | 
HDND is mainly due to haemolysis of neonatal RBC | 
| 
D | 
HDND is mainly due to sequestration of fetal RBC | 
| 
E | 
HDND is mainly due to sequestration of fetal & neonatal RBC | 
| 
F | 
HDND is mainly due to sequestration of neonatal RBC | 
| 
G | 
HDND is mainly due to suppression of fetal erythroid progenitor cells | 
| 
H | 
HDND is mainly due to suppression of neonatal erythroid progenitor
  cells | 
| 
I | 
none of the above | 
Scenario 22.          
  
Which of the following statements is true in relation to antenatal
detection of HDFN due to anti-K antibodies?
Option list.
| 
A | 
the threshold for significant HDFN is a titre of 1 in 4 | 
| 
B | 
the threshold for significant HDFN is a titre of 1 in 8 | 
| 
C | 
the threshold for significant HDFN is a titre of 1 in 16 | 
| 
D | 
the threshold for significant HDFN is a titre of 1 in 32 | 
| 
E | 
the threshold for significant HDFN is a titre of 1 in 64 | 
| 
F | 
the threshold for significant HDFN is a titre of 1 in 128 | 
| 
G | 
the threshold for significant HDFN is a titre of 1 in 256 | 
| 
H | 
none of the above | 
Scenario 23.          
  
Which of the following statements is true in relation to antenatal
detection of HDFN due to anti-K antibodies?
Option list.
| 
A | 
the threshold for significant HDFN is a level > 2 iu/L. | 
| 
B | 
the threshold for significant HDFN is a level > 4 iu/L. | 
| 
C | 
the threshold for significant HDFN is a level > 7.5 iu/L. | 
| 
D | 
the threshold for significant HDFN is a level > 10 iu/L. | 
| 
E | 
the threshold for significant HDFN is a level > 15 iu/L. | 
| 
F | 
the threshold for significant HDFN is a level > 25 iu/L. | 
| 
G | 
the threshold for significant HDFN is any level if anti-E is also
  present. | 
| 
H | 
none of the above | 
Scenario 24.          
  
Which, if any, of the following statements are true in relation to referral
to a FMM expert when Kell antibodies are detected?
Option list.
| 
A | 
the threshold for referral is a level of anti-K > 2 iu/L. | 
| 
B | 
the threshold for referral is a level of anti-K > 4 iu/L. | 
| 
C | 
the threshold for referral is a level of anti-K > 7.5 iu/L. | 
| 
D | 
the threshold for referral is a level of anti-K > 10 iu/L. | 
| 
E | 
the threshold for referral is a level of anti-K > 15 iu/L. | 
| 
F | 
the threshold for referral is a level of anti-K > 25 iu/L. | 
| 
G | 
the threshold for referral is any level of anti-K. | 
| 
H | 
the threshold for referral is any level of anti-K if anti-E is also
  present. | 
| 
I | 
none of the above | 
Scenario 25.          
  
Which of the following statements is true in relation to the threshold
for antenatal diagnosis of significant HDFN due to anti-K when using
measurement of MCAPSV?
Option list.
| 
A | 
MoM > 1.25 | 
| 
B | 
MoM > 1.50 | 
| 
C | 
MoM > 1.75 | 
| 
D | 
MoM > 2.00 | 
| 
E | 
MoM > 2.50 | 
| 
F | 
MoM > 3.00 | 
| 
G | 
none of the above | 
Scenario 26.          
  
Which of the following statements is true in relation to the threshold
for antenatal diagnosis of significant HDFN due to anti-K when using
measurement of ∆OD450?
Option list.
| 
A | 
MoM > 1.25 | 
| 
B | 
MoM > 1.50 | 
| 
C | 
MoM > 1.75 | 
| 
D | 
MoM > 2.00 | 
| 
E | 
MoM > 2.50 | 
| 
F | 
MoM > 3.00 | 
| 
G | 
none of the above | 
Scenario 27.          
  
Which, if any, of the following statements are true in relation to the
numbers of reticulocytes in cord blood in moderate to severe HDFN?
Option list.
| 
A | 
the numbers are decreased | 
| 
B | 
the numbers are increased | 
| 
C | 
the numbers are normal | 
| 
D | 
none of the above | 
Scenario 28.          
  
Which, if any, of the following statements are true in relation to the
numbers of erythroblasts in cord blood in moderate to severe HDFN?
Option list.
| 
A | 
the numbers are decreased | 
| 
B | 
the numbers are increased | 
| 
C | 
the numbers are normal | 
| 
D | 
none of the above | 
Scenario 29.          
  
Which, if any, of the following statements are true in relation to the level
of bilirubin in cord blood in moderate to severe HDFN?
Option list.
| 
A | 
the numbers are decreased | 
| 
B | 
the numbers are increased | 
| 
C | 
the numbers are normal | 
| 
D | 
none of the above | 
Scenario 30.          
  
Which, if any, of the following statements are true in relation to King Henry
VIII and Kell?
Option list.
| 
A | 
Kell may have been the cause of his subfertility | 
| 
B | 
He may have had the McLeod syndrome | 
| 
C | 
He may have inherited the Kell antigen from Jacquetta Woodville | 
| 
D | 
The Kell antigen may have explained his passion for jousting | 
| 
E | 
The Kell antigen may have explained his passion for extramarital
  dalliance | 
The TOG questions
for the Gajjar article can be found  here.
Send your answers
and I’ll send mine.
16.  Fragile X syndrome
Abbreviations.
FXS:                    Fragile X syndrome
Lead-in
Which, if any, of the following are
features of FXS in males?
Option List
| 
A | 
autism | 
| 
B | 
epilepsy | 
| 
C | 
hyper-extensible joints | 
| 
D | 
learning difficulty | 
| 
E | 
post-pubertal macroorchidism  | 
Question  2.       
  
Lead-in
Which of
the following is the gene related to FXS?
Option List
| 
A | 
Familial
  mental resources gene | 
| 
B | 
Familial mental
  retardation gene 1 | 
| 
C | 
Fragile
  mental resources gene | 
| 
D | 
Fragile mental
  regulation gene | 
| 
E | 
Frothing mouth &
  roaring gene | 
Question  3.       
  
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 | 
post-pubertal ovarian
  enlargement | 
Question  4.       
  
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 | 
| 
B | 
leonisation | 
| 
C | 
lionisation | 
| 
D | 
lyonisation | 
| 
E | 
none of the above | 
Question  5.       
  
Lead-in
How common
is FXS in males?
Option List
| 
A | 
1 in
  1,000 | 
| 
B | 
1 in 4,000 | 
| 
C | 
1 in 8,000 | 
| 
D | 
1 in 20,000 | 
| 
E | 
1 in 100.000 | 
Question  6.       
  
Lead-in
How common
is FXS in females?
Option List
| 
A | 
1 in
  1,000 | 
| 
B | 
1 in 4,000 | 
| 
C | 
1 in 8,000 | 
| 
D | 
1 in 20,000 | 
| 
E | 
1 in 100.000 | 
Question  7.       
  
Lead-in
Which gene
is implicated in the causation of FXS?
Option List
| 
A | 
fragile
  X mental retardation 1 | 
| 
B | 
fragile X mitochondrial
  recognition 1 | 
| 
C | 
fragile X 1 | 
| 
D | 
the gene has not yet
  been identified | 
| 
E | 
none of the above | 
Question  8.       
  
Lead-in
Which is
the leading hereditary cause of learning difficulty?
Option List
| 
A | 
Down’s
  syndrome | 
| 
B | 
fragile X syndrome | 
| 
C | 
galactosaemia | 
| 
D | 
homocystinuria | 
| 
E | 
phenylketonuria | 
Question  9.       
  
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  10.   
  
Lead-in
Which mode
of inheritance occurs with FXS?
Option List
| 
A | 
autosomal
  dominant | 
| 
B | 
autosomal recessive | 
| 
C | 
X-linked dominant | 
| 
D | 
X-linked recessive | 
| 
E | 
none of the above | 
Question  11.   
  
Lead-in
What is
the prevalence of seizures in men with FXS?
Option list.
| 
A | 
  5% | 
| 
B | 
10% | 
| 
C | 
15% | 
| 
D | 
30% | 
| 
E | 
40% | 
Question  12.   
  
Lead-in
What is
the prevalence of seizures in women with FXS?
Option list.
| 
A | 
  5% | 
| 
B | 
10% | 
| 
C | 
15% | 
| 
D | 
30% | 
| 
E | 
40% | 
Question  13.   
  
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.
Lead-in
What is the FX premutation? What are
its key features?
There is no option
list – just write your answers.
Question  15.   
  
Lead-in
A woman
has the FX premutation. What is the risk of a daughter inheriting it?
Option list.
| 
A | 
1:1 | 
| 
B | 
1:2 | 
| 
C | 
1:3 | 
| 
D | 
1:4 | 
| 
E | 
none of
  the above | 
Question  16.   
  
Lead-in
A woman
has the FX premutation. What is the risk of a son inheriting it?
Option list.
| 
A | 
1:1 | 
| 
B | 
1:2 | 
| 
C | 
1:3 | 
| 
D | 
1:4 | 
| 
E | 
none of
  the above | 
Question  17.   
  
Lead-in
A man has
the FX premutation. What is the risk of a daughter inheriting it?
Option list.
| 
A | 
1:1 | 
| 
B | 
1:2 | 
| 
C | 
1:3 | 
| 
D | 
1:4 | 
| 
E | 
none of
  the above | 
Question  18.   
  
Lead-in
A man has
the FX premutation. What is the risk of a son inheriting it?
Option list.
| 
A | 
1:1 | 
| 
B | 
1:2 | 
| 
C | 
1:3 | 
| 
D | 
1:4 | 
| 
E | 
none of
  the above | 
Question  19.   
  
Lead-in
Under what
circumstances can expansion of the premutation to the full mutation take place?
Option list. 
| 
A | 
only
  when passed on by the father | 
| 
B | 
only
  when passed on by the mother | 
| 
C | 
only in
  temperate climates | 
| 
D | 
only in
  tropical climates | 
| 
E | 
none of
  the above | 
Question  20.   
  
Lead-in
Which of
the following is true in relation of expansion of the premutation to the full
mutation?
Option list. 
| 
A | 
expansion
  does not occur with fewer than 300 triplet repeats | 
| 
B | 
expansion
  does not occur with fewer than 400 triplet repeats | 
| 
C | 
expansion
  does not occur with fewer than 500 triplet repeats | 
| 
D | 
expansion
  does not occur with fewer than 1,000 triplet repeats | 
| 
E | 
none of
  the above | 
Question  21.   
  
Lead-in
Which of the
following is true?
Option list. 
| 
A | 
women
  are more likely to have the FX premutation than men | 
| 
B | 
women
  are more likely to have the FX premutation than men | 
| 
C | 
women
  are more likely to have the FX premutation than men | 
| 
D | 
the
  relative prevalence of the FX premutation by gender is unknown | 
Question  22.   
  
Lead-in
What is
the approximate prevalence of the FX premutation in the female general
population?
Option list. 
| 
A | 
1 in 100 | 
| 
B | 
1 in 200 | 
| 
C | 
1 in 500 | 
| 
D | 
1 in
  1,000 | 
| 
E | 
1 in
  2,000 | 
Question  23.   
  
Lead-in
Which of
the following conditions is more common in women who are carriers of the FX
premutation?
Option list. 
| 
A | 
atypical
  endometrial hyperplasia | 
| 
B | 
diabetes
  type I | 
| 
C | 
diabetes
  type II | 
| 
D | 
Parkinsonism | 
| 
E | 
premature
  ovarian insufficiency | 
Question  24.   
  
Lead-in
A woman is
a known carrier of the FX premutation. What is the approximate risk of her
developing the condition in the previous question?
Option list. 
| 
A  | 
5% | 
| 
B | 
10% | 
| 
C | 
15% | 
| 
D | 
25% | 
| 
E | 
40% | 
Question  25.   
  
Lead-in
A woman
has the condition mentioned in the two previous questions. What is approximate
risk of her being a carrier of the FX premutation?
Option list. 
| 
A | 
3% | 
| 
B | 
12% | 
| 
C | 
18% | 
| 
D | 
25% | 
| 
E | 
30% | 
Question  26.   
  
Lead-in
What is
the approximate prevalence of the FX premutation in the male general
population? Pick the closest answer from the option list.
Option list. 
| 
A | 
1 in 100 | 
| 
B | 
1 in 200 | 
| 
C | 
1 in 500 | 
| 
D | 
1 in
  1,000 | 
| 
E | 
1 in
  2,000 | 
Question  27.   
  
Lead-in
A woman
has the condition mentioned in the two previous questions. What is approximate
risk of her being a carrier of the FX premutation?
Option list. 
| 
A | 
3% | 
| 
B | 
12% | 
| 
C | 
18% | 
| 
D | 
25% | 
| 
E | 
30% | 
Question  28.   
  
Lead in.
Match the condition with the best option from the option
list. Each option can be used once, more than once or not at all.
Option list.
|  | 
Repeat | 
| 
A | 
CAG | 
| 
B | 
CCTG | 
| 
C | 
CGG | 
| 
D | 
CTG | 
| 
E | 
GAA | 
List of conditions.
| 
Condition | 
Best match from Option list. | 
| 
Friedreich ataxia |  | 
| 
Fragile X syndrome |  | 
| 
Huntington disease |  | 
| 
Myotonic dystrophy Type
  1 |  | 
| 
Myotonic dystrophy Type 2 |  | 
| 
Spinocerebellar ataxia
  Type B |  | 
17. Viva. Mayer-Rokitansky-KΓΌster-Hauser
syndrome.
The examiner will ask you a series of questions.
