Onexamination 2012 - GENETICS PDF

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Work Smart Session - MRCP Part 1

Question: 1 of 10
Time taken: 00:13
A 15-year-old boy comes to the dermatology clinic as his parents are concerned about some changes they
have noticed in his skin. He is from a travelling community, and as such his parents have previously shunned
Session Analysis
CorrectIncorrectPartially Correct
medical services.
On examination you notice that he has a number of facial and periungual fibromata. He also has a number of
hypomelanotic areas (at least four) on examination of his skin. You also notice gingival fibromata and pitting of
his tooth enamel on examination of his mouth.
On which chromosome is the abnormality associated with this disease likely to be found?
(Please select 1 option)
Chromosome 2
Chromosome 6
Chromosome 9
Score: 75%
Chromosome 11
Total Answered: 16
Chromosome 12
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Question: 1 of 10
Time taken: 01:11
A 15-year-old boy comes to the dermatology clinic as his parents are concerned about some changes they
have noticed in his skin. He is from a travelling community, and as such his parents have previously shunned
Session Analysis
medical services.
On examination you notice that he has a number of facial and periungual fibromata. He also has a number of
hypomelanotic areas (at least four) on examination of his skin. You also notice gingival fibromata and pitting of
his tooth enamel on examination of his mouth.
On which chromosome is the abnormality associated with this disease likely to be found?
Chromosome 2
Chromosome 6
Chromosome 9
Incorrect answer selected

This is the correct answer
Score: 70.59%
Chromosome 11
Total Answered: 17
Chromosome 12
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This boy has tuberous sclerosis, which is inherited in autosomal dominant fashion, with responsible defects
having been identified on both chromosome 9 and chromosome 16. These chromosomes carry codes for
hamartin and tuberin, protein gene products which are responsible for regulation of cell growth.
Most of the tumours which are produced in tuberous sclerosis are hamartomas, and various phenotypes of the
disease occur, with some parents of patients having much more subtle features than those seen in their
children.
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Answer statistics
1
5%
23%
32%
28%
11%
Times answered 2604
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Question: 1 of 10
Time taken: 00:18
You are reviewing the results of a clinical trial of a new agent for treating type 2 diabetes mellitus. There are a
number of analyses presented as part of the study.
Session Analysis
Which of the following would be considered the most robust?

All patients who took one dose of medication
Intention to treat
One month completer
Per protocol
Trial completer
Score: 100%
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Total Answered: 6
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Question: 1 of 10
Time taken: 00:48
You are reviewing the results of a clinical trial of a new agent for treating type 2 diabetes mellitus. There are a
number of analyses presented as part of the study.
Session Analysis
Which of the following would be considered the most robust?

All patients who took one dose of medication
Intention to treat

One month completer

Per protocol
Trial completer
Score: 85.71%
The intention to treat (ITT) analysis contains all the patients randomised to a particular therapy regardless of
whether they received it or not. ITT is considered to be the analysis which is least subject to bias.
Total Answered: 7
Completer analyses, whether they took one dose of medication, one month of medication or completed the
study, are subject to degrees of bias.
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A per protocol analysis may exclude patients who suffered an event but then did not follow the protocol
accurately, for example, a patient treated with the diabetes agent who was admitted to hospital, but missed one
to two doses of medication.
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Answer statistics
1
8%
54%
5%
12%
22%
Times answered 2837
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Question: 2 of 10
Time taken: 00:59
One of the scientists at your university claims to have discovered a new mutation screen which is useful for the
diagnosis of a particular subtype of chronic myeloid leukaemia (CML).
Session Analysis
The prevalence of this subtype is 10% of all cases of CML, and the test has a sensitivity of 100% with a
specificity of 97%.
Which of the following approximates most closely to the positive predictive value?
100%
97%
77%
27%
Score: 85.71%
10%
Total Answered: 7
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Question: 2 of 10
Time taken: 04:35
One of the scientists at your university claims to have discovered a new mutation screen which is useful for the
diagnosis of a particular subtype of chronic myeloid leukaemia (CML).
Session Analysis
The prevalence of this subtype is 10% of all cases of CML, and the test has a sensitivity of 100% with a
specificity of 97%.
Which of the following approximates most closely to the positive predictive value?
100%
97%
77%
27%
Score: 75%
10%
Total Answered: 8
Out of every 100 patients screened with CML, you would expect 10 of them to have the particular subtype (true
positives). False positives will be 3/100.
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The positive predictive value is the percentage of true positives out of total positives, which is
10 / 13 = 77%.
The negative predictive value is the percentage of true negatives out of total negatives.
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Answer statistics
1
27%
40%
16%
6%
11%
Times answered 3004
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Question: 3 of 10
Time taken: 04:44
A 23-year-old male is diagnosed with diabetes. He has frontal balding, and tells you that he has previously
been diagnosed with a cardiomyopathy.
Session Analysis
Which of the following genetic phenomena is associated with this genetic condition?
Chromosome instability
Deletion
Epistasis
Microdeletion
Trinucleotide repeats
Score: 75%
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Total Answered: 8
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Question: 3 of 10
Time taken: 05:00
A 23-year-old male is diagnosed with diabetes. He has frontal balding, and tells you that he has previously
been diagnosed with a cardiomyopathy.
Session Analysis
Which of the following genetic phenomena is associated with this genetic condition?
Chromosome instability
Deletion
Epistasis
Microdeletion
Trinucleotide repeats
Correct
Score: 77.78%
The suggestion here is that the patient has myotonic dystrophy.
Total Answered: 9
Myotonic dystrophy is autosomal dominant and exhibits anticipation as the number of trinucleotide repeats
undergo triplet expansion, resulting in the disease presenting at a younger age, or with greater disease severity
along the generations.
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Examples of chromosome instability syndromes are:
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Fanconi anaemia
Ataxia telangiectasia
Bloom syndrome.
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Related Articles (BMJ)

1
14%
Oesophageal atresia, VACTERL association: Fanconis anaemia related spectrum of anomalies -Perel et al. 78 (4): 375 -- Archives of Disease in Childhood
15%
4%
Read article
17%
51%
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus

syndrome -- Holden et al. 43 (9): 750 -- Journal of Medical Genetics
Times answered 6368
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autosomal Epistasis Fanconi
A fair reason for failing to thrive -- Connor et al. 93 (2): 50 -- ADC - Education and Practice
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How the Fanconi Anemia

Pathway Guards the Genome Annual ...
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Question: 4 of 10
Time taken: 05:11
Session Analysis
Mutation in which of the following is associated with Ehlers-Danlos syndrome?

Collagen type 1 gene
FGFR3 gene
Fibrillin- gene
FMR-1 gene
Type II procollagen gene
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Score: 77.78%
Total Answered: 9
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Question: 4 of 10
Time taken: 05:22
Session Analysis
Mutation in which of the following is associated with Ehlers-Danlos syndrome?

Correct
FGFR3 gene
Fibrillin- gene
FMR-1 gene
Mutations in the following genes cause Ehlers-Danlos syndrome:

ADAMTS2
COL1A1
COL1A2
COL3A1
COL5A1
COL5A2
PLOD1
TNXB.
Score: 80%
Total Answered: 10
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Ehlers-Danlos occurs in 1:5000 people worldwide.

In view of the wide number of mutations that can cause Ehlers-Danlos syndrome, this is a very heterogeneous
condition.
FGFR3 is implicated in achondroplasia
Fibrillin gene in Marfan's syndrome and
FMR-1 gene fragile X mental retardation 1.
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Management of Marfan syndrome -- Dean 88 (1): 97 -- Heart
45%
15%
13%
7%
19%
Times answered 4879
Read article
An aortic dissection in a young weightlifter with non-Marfan fibrillinopathy -- Hogan 22 (4): 304 -Emergency Medicine Journal
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Evolving phenotype of Marfans syndrome -- Lipscomb et al. 76 (1): 41 -- Archives of Disease in

Childhood
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Question: 5 of 10
Time taken: 05:31
Session Analysis
Mutation in which of the following is associated with Marfan's syndrome?

Fibrillin-1 gene
FMR-1 gene
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Score: 80%
Total Answered: 10
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Question: 5 of 10
Time taken: 05:43
Session Analysis
Mutation in which of the following is associated with Marfan's syndrome?

Fibrillin-1 gene
Correct
FMR-1 gene
Mutation in the fibrillin-1 gene is thought to be responsible for Marfan's syndrome.

In Marfan's syndrome the lack of normal fibrillin-1 leads to overactivity of transforming growth factor type beta
(TGF-b) in the wall of the aorta and the heart valves, leading to damage and destruction to the connective
tissue which weakens that aortic wall and heart valves causing them to stretch.
Score: 81.82%
Total Answered: 11
Type 1 collagen gene defects are found in osteogenesis imperfecta and type 3 in Ehlers-Danlos syndrome.
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Type II procollagen defect is found in hereditary spodyloarthropathy.
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Management of Marfan syndrome -- Dean 88 (1): 97 -- Heart
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Answer statistics
An aortic dissection in a young weightlifter with non-Marfan fibrillinopathy -- Hogan 22 (4): 304 -Emergency Medicine Journal
1
2
5%
Read article
79%
3%
4%
Evolving phenotype of Marfans syndrome -- Lipscomb et al. 76 (1): 41 -- Archives of Disease in

Childhood
10%
Times answered 5613
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fibrillin Marfan Danlos
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Molecular genetics of Marfan

syndrome and Ehlers-Danlos
type IV.
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Question: 6 of 10
Time taken: 05:49
Session Analysis
A 22-year-old female is diagnosed with cystinuria following recurrent episodes of renal colic.
Which of the following is characteristic of cystinuria?
Autosomal dominant inheritance
Cataracts
Cystine deposition within the liver
Premature coronary artery disease
Radio-opaque renal calculi
Submit answer
Score: 81.82%
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Total Answered: 11
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Question: 6 of 10
Time taken: 06:21
Session Analysis
A 22-year-old female is diagnosed with cystinuria following recurrent episodes of renal colic.
Which of the following is characteristic of cystinuria?
Autosomal dominant inheritance
Cataracts
Cystine deposition within the liver
Premature coronary artery disease
Radio-opaque renal calculi
Correct
Cystinuria is an autosomal recessive condition associated with the inadequate reabsorption of cystine (as well
as ornithine, arginine, and lysine; useful mnemonic COAL) in the nephron causing nephrolithiasis. The stones
are at least partially radio-opaque.
Score: 83.33%
Total Answered: 12
It accounts for less than 3% of renal calculi and has an incidence of 1 in 2,500.
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The foundation of cystine stone prevention is adequate hydration and urinary alkalinisation.
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Cystine calculi: challenging group of stones -- Ahmed et al. 82 (974): 799 -- Postgraduate Medical
Journal
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Answer statistics
1
18%
Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1,

EVR3, and EVR4 in a large autosomal dominant pedigree -- Toomes et al. 89 (2): 194 -- British
21%
6%
Journal of Ophthalmology
11%
Read article
44%
Times answered 5443

New insights into cystinuria: 40 new mutations, genotypephenotype correlation, and digenic
inheritance causing partial phenotype -- Font-Llitjs et al. 42 (1): 58 -- Journal of Medical Genetics
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Question: 7 of 10
Time taken: 06:29
Session Analysis
A 28-year-old lady presents with multiple cafe au lait spots.

A diagnosis of neurofibromatosis (NF)type 1 is made.
Which of the followingis true of the NF1 gene?
Inherited in a recessive fashion
Inherited in an X linked fashion
On chromosome 17
On mitochondrial genome
Related to NF2 gene
Score: 83.33%
Submit answer
Total Answered: 12
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Question: 7 of 10
Time taken: 07:03
Session Analysis
A 28-year-old lady presents with multiple cafe au lait spots.

A diagnosis of neurofibromatosis (NF)type 1 is made.
Which of the followingis true of the NF1 gene?
Inherited in a recessive fashion
Inherited in an X linked fashion
On chromosome 17
Correct
On mitochondrial genome
Related to NF2 gene
Score: 84.62%
Neurofibromatosis due to NF1 is found on chromosome 17 and is inherited in an autosomal dominant fashion.
Total Answered: 13
NF2 is associated with acoustic neuromas and is found on chromosome 22.

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Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital
hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct -Callaghan et al. 83 (1): 115 -- British Journal of Ophthalmol
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Answer statistics
EVR3, and EVR4 in a large autosomal dominant pedigree -- Toomes et al. 42 (4): 291 -- Journal of
Medical Genetics
5%
67%
4%
8%
Read article
Renal and extrarenal autosomal dominant polycystic kidney disease -- BASARIA and MEHTA 76
(902): 814 -- Postgraduate Medical Journal
16%
Times answered 5425
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autosomal
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Question: 8 of 10
Time taken: 07:13
Which of the following organelles contains enzymes responsible for the digestion of constituents of cells and
tissues?
Session Analysis

Endoplasmic reticulum
Golgi apparatus
Lysosomes
Microtubules
Mitochondria
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Score: 84.62%
Total Answered: 13
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Question: 8 of 10
Time taken: 07:21
Which of the following organelles contains enzymes responsible for the digestion of constituents of cells and
tissues?
Session Analysis

Endoplasmic reticulum
Golgi apparatus
Lysosomes
Correct
Microtubules
Mitochondria
The lysosomes contain the enzymes and molecules such as oxidases, free radical, etc, responsible for the
breakdown of intracellular components.
Score: 85.71%
Total Answered: 14
Microtubules are involved in mitotic processes and intracellular transportation.

The mitochondria produce energy for cellular functions.
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Clinical and morphological features including expression of ig-h3 and keratan sulphate
proteoglycans in Maroteaux-Lamy syndrome type B and in normal cornea -- Akhtar et al. 86 (2): 147 - British Journal of Ophthalmology
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Food for thought: autophagic vacuolar myopathies -- Strehle 94 (8): 567 -- Archives of Disease in
Childhood
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A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new
lysosomal disease? -- Simon et al. 65 (2): 251 -- Journal of Neurology, Neurosurgery Psychiatry
4%
6%
87%
1%
3%
Times answered 5145
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Question: 9 of 10
Time taken: 07:28
A 17-year-old female is affected by an inherited disorder. She has two brothers who are unaffected. She has
two sisters both are affected. Her father is affected but not her mother.
Session Analysis
Which of the following modes of inheritance is the best explanation?

Autosomal dominant
Autosomal recessive
Mitochondrial
X linked dominant
X linked recessive
Score: 85.71%
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Total Answered: 14
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Question: 9 of 10
Time taken: 08:21
A 17-year-old female is affected by an inherited disorder. She has two brothers who are unaffected. She has
two sisters both are affected. Her father is affected but not her mother.
Session Analysis
CorrectIncorrectPartially
CorrectCorrect: 13 question(s)
Which of the following modes of inheritance is the best explanation?

Autosomal dominant
Autosomal recessive
Mitochondrial
X linked dominant
Correct
X linked recessive
Score: 86.67%
This is a tricky question and the crucial part is recognising that X linked dominant conditions are transmitted by
a father to all his daughters and that, on balance, this is a better explanation of the genetics than the tenuous
assertion that an autosomal dominant condition has by chance affected three daughters but neither of two
sons.
Total Answered: 15
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X linked dominant disorders are rare (for example, vitamin D-resistant rickets). They affect both sexes but
females more than males.
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All children of a homozygous mother are affected.

Half the sons and half the daughters inherit the disorder from an affected mother with the trait.
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An affected father passes the disease to all his daughters but none of his sons - as in this example.

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Answer statistics
hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct --
10%
6%
5%
61%
18%
Callaghan et al. 83 (1): 115 -- British Journal of Ophthalmol

Times answered 5995
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Question: 10 of 10
Time taken: 08:28
Session Analysis
Which of the following disorders is characterised by an autosomal recessive mode of inheritance?

Achondroplasia
Congenital adrenal hyperplasia
Familial hypercholesterolaemia
Hereditary haemorrhagic telangiectasia
Huntington's disease
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Score: 86.67%
Total Answered: 15
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Question: 10 of 10
Time taken: 10:18
Session Analysis
Which of the following disorders is characterised by an autosomal recessive mode of inheritance?

Achondroplasia
Congenital adrenal hyperplasia
Hereditary haemorrhagic telangiectasia
All the others are autosomal dominant.

Score: 81.25%
Total Answered: 16
Finish
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Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary
malformation on chromosome 5q14 -- Brancati et al. 40 (11): 849 -- Journal of Medical Genetics
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Cerebral haemorrhage in hereditary haemorrhagic telangiectasia -- 88 (8): 739 -- Archives of Disease

in Childhood
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A case of manganese induced parkinsonism in hereditary haemorrhagic telangiectasia -- Yoshikawa

et al. 74 (9): 1312 -- Journal of Neurology, Neurosurgery Psychiatry
12%
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48%
12%
19%
9%
Times answered 5639
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Achondroplasia autosomal telangiectasia
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Question: 1 of 10
Time taken: 00:08
A 34-year-old man with polycystic kidney disease attends the transplant clinic with his 19-year-old brother.
Session Analysis
His most recent creatinine has been measured at 342 mol/l, and he is on several anti-hypertensive drugs and
erythropoietin injections to maintain his haemoglobin, which was recently measured as 10.4 g/l.
On examination his BP is 149/87 mmHg. Other findings are consistent with chronic renal failure. His father had
end stage renal failure for some years before his death.
Which of the following most accurately reflects the chances of his brother being able to donate a kidney to him?
0%
25%
33%
50%
Score: 81.25%
100%
Total Answered: 16
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Question: 1 of 10
Time taken: 02:06
A 34-year-old man with polycystic kidney disease attends the transplant clinic with his 19-year-old brother.
Session Analysis
His most recent creatinine has been measured at 342 mol/l, and he is on several anti-hypertensive drugs and
erythropoietin injections to maintain his haemoglobin, which was recently measured as 10.4 g/l.
On examination his BP is 149/87 mmHg. Other findings are consistent with chronic renal failure. His father had
end stage renal failure for some years before his death.
Which of the following most accurately reflects the chances of his brother being able to donate a kidney to him?
0%
25%
33%
50%
Score: 82.35%
Correct
Total Answered: 17
100%
Polycystic kidney disease (PCKD) carries an autosomal dominant inheritance pattern. As such, with one
affected parent, each child has a 50% chance of inheriting the PCKD gene.
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Whilst ultrasound is very sensitive in detection of PCKD in patients over 20, in those under 20 it is not 100%
accurate.
It may not seem immediately obvious to consider a family member as a potential donor, but they may be a
valuable source for a kidney in this situation.
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Answer statistics
Autosomal dominant polycystic kidney disease unlinked to thePKD1 and PKD2loci presenting as
familial cerebral aneurysm -- MCCONNELL et al. 38 (4): 238 -- Journal of Medical Genetics
Read article
19%
21%
8%
47%
5%
Times answered 2833

Chronic obstructive pancreatitis due to a pancreatic cyst in a patient with autosomal dominant
polycystic kidney disease -- Malka et al. 42 (1): 131 -- Gut
Read article
autosomal creatinine
The investigation of hypocalcaemia and rickets -- Singh et al. 88 (5): 403 -- Archives of Disease in
Childhood
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Understanding & Living with

Autosomal Dominant
Polycystic Kidney ...
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Question: 2 of 10
Time taken: 02:19
A 25-year-old male presents with symptoms of gait ataxia and pes cavus. His father developed similar
symptoms at the age of 36.
Session Analysis
Which of the following genetic phenomena explains the age of his presentation?
Anticipation
Complex traits
Epistasis
Expansion
Microdeletion
Score: 82.35%
Submit answer
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Total Answered: 17
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Question: 2 of 10
Time taken: 02:54
Session Analysis
A 25-year-old male presents with symptoms of gait ataxia and pes cavus. His father developed similar
symptoms at the age of 36.
Which of the following genetic phenomena explains the age of his presentation?
Anticipation
Correct
Complex traits
Epistasis
Expansion
Microdeletion
Score: 83.33%
A phenomenon whereby the symptoms of a condition appear at an earlier age when inherited in the next
generation is termed anticipation.
Total Answered: 18
These conditions are almost exclusively associated with trinucleotide repeat sequences and examples are
Huntington's disease, myotonic dystrophy, and Friedreich's ataxia, as is probably the case in this patient.
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Friedreichs ataxia -- Pearce 75 (5): 688 -- Journal of Neurology, Neurosurgery Psychiatry
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Friedreich's ataxia presenting after cardiac transplantation -- Leonard and Forsyth 84 (2): 167 -Archives of Disease in Childhood
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6%
2%
9%
8%
Evidence of epistasis between interleukin 1 and selenoprotein-S with susceptibility to rheumatoid

arthritis -- Marinou et al. 68 (9): 1494 -- Annals of the Rheumatic Diseases
Times answered 6689
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Question: 3 of 10
Time taken: 03:05
Session Analysis
Which of the following is a polygenic disorder?

Ankylosing spondylitis
Erythropoietic porphyria
Fragile X syndrome
Pendred's syndrome
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Score: 83.33%
Total Answered: 18
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Question: 3 of 10
Time taken: 03:25
Session Analysis
Which of the following is a polygenic disorder?

Ankylosing spondylitis
Correct
Erythropoietic porphyria
Fragile X syndrome
Pendred's syndrome
Unlike the other conditions, no one specific genetic defect has been identified to account for ankylosing
spondylitis.
Score: 84.21%
Huntington's chorea is an autosomal dominant condition.
Total Answered: 19
Fragile X syndrome is due to a trinucleotide repeat at the FMR 1 gene on the X chromosome.
Erythropoietic porphyria is an autosomal recessive condition, as is Pendred's syndrome.
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Association of chromosome 2q36.136.3 and autosomal dominant transmission in ankylosing
spondylitis: results of genetic studies across generations of Han Chinese families -- Gu et al. 46 (10):
657 -- Journal of Medical Genetics
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Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis -- Brown et al. 59 (11):
14%
883 -- Annals of the Rheumatic Diseases
10%
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9%
22%
From the Library -- 86 (9): 1069 -- British Journal of Ophthalmology
Times answered 5294
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Question: 4 of 10
Time taken: 03:42
Session Analysis
Which one of the following conditions is a polygenic disorder?

Amyotrophic lateral sclerosis (ALS)
Congenital adrenal hyperplasia (CAH)
Friedreichs ataxia
Huntingtons disease
Klinefelters syndrome
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Score: 84.21%
Total Answered: 19
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Question: 4 of 10
Time taken: 04:05
Session Analysis
Which one of the following conditions is a polygenic disorder?

Amyotrophic lateral sclerosis (ALS)
Correct
Congenital adrenal hyperplasia (CAH)

Friedreichs ataxia
Huntingtons disease
Klinefelters syndrome
All the other conditions are associated with a specific gene defect - CAH and Friedreich's being autosomal
recessive with Huntington's being dominant.
Score: 85%
Klinefelter's is due to a chromosomal abnormality, XXY.
Total Answered: 20
No specific defect has been detected thus far with ALS.

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ABN Scientific Meeting -- 79 (3): 338 -- Journal of Neurology, Neurosurgery Psychiatry
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Early onset of Friedreich's ataxia in a compound heterozygote -- McGovern et al. 83 (1): 74 -Archives of Disease in Childhood
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Mitochondrial DNA haplogroups influence the Friedreichs ataxia phenotype -- Giacchetti et al. 41
(4): 293 -- Journal of Medical Genetics
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9%
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7%
Times answered 5610
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Question: 5 of 10
Time taken: 04:15
With respect to lipoprotein transport and metabolism in the body, the following statements are correct, except
which?
Session Analysis

Arterial walls contain cells with LDL receptors
Cholesterol is required for the formation of red blood cell membranes
Chylomicrons are synthesised in the liver
HDL is assembled in the extracellular space
VLDL transformation to LDL occurs in the liver
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Score: 85%
Total Answered: 20
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Question: 5 of 10
Time taken: 05:22
With respect to lipoprotein transport and metabolism in the body, the following statements are correct, except
which?
Session Analysis

Arterial walls contain cells with LDL receptors
Cholesterol is required for the formation of red blood cell membranes
Chylomicrons are synthesised in the liver
Correct
HDL is assembled in the extracellular space

VLDL transformation to LDL occurs in the liver
Chylomicrons are formed in the gut from exogenous triacylglycerols and cholesterol.
Score: 85.71%
They are released into the lymph and thereby enter the blood.
Total Answered: 21
They are not formed in the liver.

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Scavenger receptor class B type I (SR-BI) in pig enterocytes: trafficking from the brush border to lipid
droplets during fat absorption -- Hansen et al. 52 (10): 1424 -- Gut
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The APO*E3-Leiden mouse as an animal model for basal laminar deposit -- Kliffen et al. 84 (12):
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10%
17%
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Vitamin D in childhood and adolescence -- Cashman 83 (978): 230 -- Postgraduate Medical Journal
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Times answered 5240
Chylomicrons extracellular
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Question: 6 of 10
Time taken: 05:32
A 59-year-old woman has had insulin dependent diabetes mellitus for over two decades. The degree of control
of her disease is characterised by the laboratory finding of a HbA1c of 10.1%.
Session Analysis
She complains of repeated episodes of abdominal pain following meals. These episodes have become more
frequent and last for longer periods over the last couple of months.
On physical examination, there are no abdominal masses and she has no enlarged liver, spleen or kidneysand
no tenderness to palpation.
Which of the following findings is most likely to be present?
Acute pancreatitis
Chronic renal failure
Hepatic infarction
Score: 85.71%
Mesenteric artery occlusion
Total Answered: 21
Ruptured aortic aneurysm
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Question: 6 of 10
Time taken: 06:58
A 59-year-old woman has had insulin dependent diabetes mellitus for over two decades. The degree of control
of her disease is characterised by the laboratory finding of a HbA1c of 10.1%.
Session Analysis
She complains of repeated episodes of abdominal pain following meals. These episodes have become more
frequent and last for longer periods over the last couple of months.
On physical examination, there are no abdominal masses and she has no enlarged liver, spleen or kidneysand
no tenderness to palpation.
Which of the following findings is most likely to be present?
Acute pancreatitis
Chronic renal failure
Hepatic infarction
Mesenteric artery occlusion
Score: 86.36%
Correct
Total Answered: 22
Ruptured aortic aneurysm
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Diabetes - especially type 2 diabetes - is associated with macrovascular disease.
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Smoking is a further risk factor for macrovascular atherosclerosis.

After a meal splanchnic blood flow is increased. If the mesenteric artery is occluded the lack of blood flow to
the bowel will produce ischaemic type pain.
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Chronic renal failure may be present but would not cause post prandial pain.
Ruptured aortic aneurysm would normally present acutely with hypotension, cold lower limbs with reduced
pulses and a pulsatile, tender abdominal mass.
Pancreatitis is unlikely given the history and the lack of epigastric tenderness.
Hepatic infarction should lead to right upper quadrant pain.
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Answer statistics
1
12%
6%
3%
78%
1%
Times answered 5304

The role of platelet activating factor in a neonatal piglet model of necrotising enterocolitis -- Ewer et
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Question: 7 of 10
Time taken: 07:11
Session Analysis
In meiosis which of the following is true?

Anaphase lag results in one of the two daughter cells receiving an extra part of one chromosome.
At the beginning of meiosis 2, each cell contains 23 single chromosomes.
DNA replication occurs during meiosis 1.
Non-disjunction at mitosis (meisois 2) results in mosaicism.
The incidence of Down's syndrome due to translocation increases with increasing maternal age.
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Score: 86.36%
Total Answered: 22
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Question: 7 of 10
Time taken: 08:18
Session Analysis
In meiosis which of the following is true?

Anaphase lag results in one of the two daughter cells receiving an extra part of one chromosome.
At the beginning of meiosis 2, each cell contains 23 single chromosomes.
DNA replication occurs during meiosis 1.
Non-disjunction at mitosis (meisois 2) results in mosaicism.
The incidence of Down's syndrome due to translocation increases with increasing maternal age.
Meiosis is the form of cell division that produces gametes. It is divided into two parts, meiosis 1 and meiosis 2.
Deoxyribonucleic acid (DNA) replication occurs before meiosis 1, and the cell begins division with twice the
normal cellular amount of DNA.
Score: 82.61%
Total Answered: 23
In meiosis 1, each daughter cell gets one of the duplicated chromosomes of each pair. At the beginning of
meiosis 2, each cell contains 23 chromosomes each with a duplicated pair of chromatids.
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In meiosis 2, the duplicated pair separate and each daughter cell ends up with one of each of the 23
chromosomes (4 hapolid daughter cells).
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Two common errors of cell division occurring during meiosis are non-disjunction (2 chromosomes fail to
separate, so both copies of the chromosome go to one of the daughter cells); and anaphase lag in which a
chromatid is lost because it fails to move quickly enough during anaphase to become incorporated into one of
the new daughter cells.
In Down's syndrome, non-disjunction accounts for 94% of cases. The incidence of this increases with
increasing maternal age. Five per cent of cases are due to translocation, and 1% to mosaicism.
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Copyright 2011 Dr Colin Melville
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18%
18%
16%
43%

Times answered 5119
Association of sister chromatid exchange frequencies in patients with ankylosing spondylitis with and
without HLA-B27 -- Ikbal et al. 62 (8): 775 -- Annals of the Rheumatic Diseases
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chromatid Itis
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid
cohesion complex conveys clinical consequences distinct from Cornelia de Lange -- Yan et al. 46 (9):
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Question: 8 of 10
Time taken: 14:00
Session Analysis
Regarding benign essential tremor which of the following is true?

Alcohol improves the tremor
Is autosomal recessive in inheritance
Is present characteristically at rest
Occurs in liver disease
Occurs with lesion in sub thalamus
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Score: 82.61%
Total Answered: 23
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Question: 8 of 10
Time taken: 14:21
Session Analysis
Regarding benign essential tremor which of the following is true?

Alcohol improves the tremor
Correct
Is autosomal recessive in inheritance

Is present characteristically at rest
Occurs in liver disease
Occurs with lesion in sub thalamus
There is no tremor at rest, but a rhythmic oscillation develops when the patient holds the arms outstretched.
A positive family history is obtained in over half of such patients and the pattern of inheritance in such families
indicates an autosomal dominant trait.
Score: 83.33%
Total Answered: 24
Alcohol suppresses essential tremor, but the mechanism responsible is unknown.

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15%
2%
3%
Times answered 5026
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autosomal
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Question: 9 of 10
Time taken: 14:35
Session Analysis
Autosomal recessive conditions include which of the following?

Huntington's chorea
Manic depression
Turner's syndrome
Vitamin D resistant rickets
Wilson's disease
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Score: 83.33%
Total Answered: 24
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Question: 9 of 10
Time taken: 15:00
Autosomal recessive conditions include which of the following?
Session Analysis

Huntington's chorea
Manic depression
Turner's syndrome
Vitamin D resistant rickets
Wilson's disease

Vitamin D resistant rickets are X linked dominant.

No linkage has been established for a particular gene in manic depressive disorder.
Score: 80%
Total Answered: 25
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1
8%
3%
4%
18%
67%
Times answered 6032
Autosomal
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Question: 10 of 10
Time taken: 15:12
Session Analysis
Which of the following is not true regarding the polymerase chain reaction?
It can be used to detect the presence of viral DNA in human disease
It is used to amplify DNA but not RNA
It utilises the thermostable properties of Taq DNA polymerase
Synthetic short DNA primers which flank the sequence of interest are required to initiate the amplification
The amount of DNA required makes it unsuitable for early prenatal diagnosis
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Score: 80%
Total Answered: 25
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Question: 10 of 10
Time taken: 16:12
Session Analysis
Which of the following is not true regarding the polymerase chain reaction?
It can be used to detect the presence of viral DNA in human disease
It is used to amplify DNA but not RNA
It utilises the thermostable properties of Taq DNA polymerase
Synthetic short DNA primers which flank the sequence of interest are required to initiate the amplification
The amount of DNA required makes it unsuitable for early prenatal diagnosis
Correct
Reverse transcription polymerase chain reaction (rt-PCR) is used to amplify RNA rather than PCR specifically.
Preimplantation diagnosis uses IVF and genetic analysis of 3-day-old embryos before selective transfer of
unaffected embryos to uterus.
Score: 80.77%
Total Answered: 26
Finish
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Toxins and the gut: role in human disease -- Fasano 50 (suppl 3): iii9 -- Gut
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The animal story -- Roeder 331 (7527): 1262 -- BMJ
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Campylobacter 0:41 isolation in Guillain-Barre syndrome -- Goddard et al. 76 (6): 526 -- Archives of
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12%
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Times answered 5999
thermostable
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Question: 1 of 6
Time taken: 00:12
Session Analysis
Mutation in which of the following is associated with Alport syndrome?

Collagen type I gene
Collagen, type IV, alpha 5 gene
Fibrillin- gene
FMR-1 gene
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Score: 80.77%
Total Answered: 26
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Question: 1 of 6
Time taken: 00:50
Mutation in which of the following is associated with Alport syndrome?
Collagen type I gene
Collagen, type IV, alpha 5 gene
Correct
Fibrillin- gene
FMR-1 gene
Mutations in the COL4A5 gene cause approximately 80% of Alport syndrome cases.
Several hundred different mutations have been identified, the majority of which cause a change in the sequence of amino
acids (the building blocks of proteins) in a region of the alpha5(IV) collagen chain that is critical for combining with other
type IV collagen chains.
Other mutations severely decrease or prevent the production of the alpha5(IV) chains.
As a result, there is a serious deficiency of the type IV collagen network in the basement membranes of the kidney, inner
ear, and eye.
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Lysyl oxidase deficiency: a new cause of human arterial dissection -- Sibon et al. 91 (5): e33 -- Heart
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The molecular genetics of Marfan syndrome and related disorders -- Robinson et al. 43 (10): 769 -- Journal of
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Question: 2 of 6
Time taken: 01:05
Session Analysis
A 29-year-old male presents to you seeking advice regarding starting a family.

He has common variable immunodeficiency and wants to know what is the risk of passing this on to his
children?
Less than 5%
25%
33%
50%
Over 70%
Score: 81.48%
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Total Answered: 27
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Question: 2 of 6
Time taken: 01:44
Session Analysis
A 29-year-old male presents to you seeking advice regarding starting a family.

He has common variable immunodeficiency and wants to know what is the risk of passing this on to his
children?
Less than 5%
Correct
25%
33%
50%
Over 70%
Score: 82.14%
Common variable immunodeficiency involves low levels of most or all of the immunoglobulin classes, a lack of
B lymphocytes or plasma cells that are capable of producing antibodies, and is associated with frequent
bacterial infections.
Total Answered: 28
The cause of CVID is unknown -a family member may be affected in approximately 20% but there is no clear
pattern of inheritance.
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1
38%
33%
4%
21%
3%
Times answered 4990
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Question: 3 of 6
Time taken: 01:55
Session Analysis
Which of the following abnormalities is associated with short stature?

45, XO karyotype
47, XXY karyotype
47 XYY karyotype
Fragile X syndrome
Homocystinuria
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Score: 82.14%
Total Answered: 28
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Question: 3 of 6
Time taken: 02:11
Session Analysis
Which of the following abnormalities is associated with short stature?

45, XO karyotype
Correct
47, XXY karyotype

47 XYY karyotype
Fragile X syndrome
Homocystinuria
Turner's syndrome, 45 XO, is characteristically associated with short stature.

Klinefelter's is associated with tall stature.
Score: 82.76%
In Fragile X, height is usually unaffected and homocystinuria may have a Marfan's habitus.
Total Answered: 29
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New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed
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AFTIMOS 37 (6): 460 -- Journal of Medical Genetics
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Lung mass in a short woman -- Convery et al. 75 (887): 561 -- Postgraduate Medical Journal
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Question: 4 of 6
Time taken: 02:21
Session Analysis
Which of the following is characteristically inherited in an autosomal recessive manner?

Achondroplasia
Adult polycystic kidney disease (APKD)
C1 esterase deficiency
Friedreich's ataxia
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Score: 82.76%
Total Answered: 29
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Question: 4 of 6
Time taken: 02:54
Session Analysis
Which of the following is characteristically inherited in an autosomal recessive manner?

Achondroplasia
Adult polycystic kidney disease (APKD)
C1 esterase deficiency
Friedreich's ataxia
Correct
Achondroplasia, APKD, C esterase deficiency (hereditary angio-oedema) and familial hypercholesterolaemia

1
are usually inherited as autosomal dominant traits.
Score: 83.33%
Friedreich's ataxia is characteristically an autosomal recessive inheritance.
Total Answered: 30
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Germline and somatic mosaicism in achondroplasia -- HENDERSON et al. 37 (12): 956 -- Journal of
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Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and
lung function study -- Tasker et al. 79 (2): 99 -- Archives of Disease in Childhood
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Current management of hereditary angio-oedema (C'1 esterase inhibitor deficiency) -- Fay and
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Times answered 4881
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Question: 5 of 6
Time taken: 03:05
Session Analysis
In X linked recessive inheritance, which of the following is true?

Daughters of affected males will all be carriers
Each daughter of a female carrier has a 1:4 risk of being a carrier
Each son of a female carrier has a 1:4 risk of being affected
The family history is often positive since new mutations are rare
The male to female ratio is 2:1
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Total Answered: 30
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Question: 5 of 6
Time taken: 04:06
Session Analysis
In X linked recessive inheritance, which of the following is true?

Daughters of affected males will all be carriers
Correct

Each son of a female carrier has a 1:4 risk of being affected
The family history is often positive since new mutations are rare
The male to female ratio is 2:1
Over 250 X linked recessive disorders have been described.

Score: 83.87%
The commonest include:
Total Answered: 31
Red/green colour blindness

Duchenne and Becker muscular dystrophies
Fragile X syndrome
G6PD deficiency
Haemophillias A and B
Hunter's syndrome.
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The abnormal gene is carried on the X chromosome, and in the carrier female, the normal allele on her other X
chromosome protects her from the disease. Since the male does not have this protection, he manifests the
disease.
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In X linked inheritance therefore:

Males are all affected
Females only occasionally show mild sign of disease
Each son of a female carrier has a 1:2 chance of being affected
Daughters of affected males will all be carriers, but sons of affected males will not be affected since the Y
chromosome is derived from father.
The family history may be negative, however, since new mutations are fairly common.
Carrier females can be identified from time to time from mild clinical manifestations and from specific tests such
as biochemical markers, for example,creatine kinase in Duchenne muscular dystrophy.
Copyright 2002 Dr Colin Melville
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1
76%
9%
9%
3%
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Times answered 5592
colour Duchenne kinase
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Question: 6 of 6
Time taken: 04:18
Session Analysis
Which of the following disorders is characterised by an autosomal dominant mode of inheritance?

Beta-thalassaemia
Cystic fibrosis
Marfan syndrome
Wilson's disease
Xeroderma pigmentosa
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Score: 83.87%
Total Answered: 31
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Question: 6 of 6
Time taken: 05:33
Which of the following disorders is characterised by an autosomal dominant mode of inheritance?
Session Analysis

Beta-thalassaemia
Cystic fibrosis
Marfan syndrome
Correct
Wilson's disease
Xeroderma pigmentosa
Apart from Marfan syndrome, all the other listed options are autosomal recessive.
Score: 84.38%
Total Answered: 32
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Marfan pigmentosa Xeroderma
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Xeroderma Pigmentosum GeneReviews - NCBI

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