Case 13 Questions 1-10

Scroll Down

Enjoy working thorugh the following questions. We hope they aid your learning. If you have any issues or feedback, please email [email protected].

Question 1

What is the probability that someone with Huntington’s Disease will pass on the disease?

  1. 1/2
  2. 1/4
  3. 1/8
  4. 1/16
  5. 1/20

The correct answer is option a 1/2

Huntingtons is autosomal dominant, so if there is an affected parent then there is a 50% chance the dominant gene will be passed onto the offspring
b. This is in Autosomal recessive inheritance
c. This is incorrect, it is 1/2
d. This is incorrect, it is 1/2
e. This is incorrect, it is 1/2

Question 2

What pattern of inheritance does Thalassaemia have?

  1. Autosomal dominant
  2. Autosomal recessive
  3. X-linked
  4. Mitochondrial disease
  5. De Novo mutations

The correct answer is option b Autosomal recessive

This is the correct inheritance pattern for thalassaemia
a. This is incorrect, an example of this is huntingtons syndrome
c. An example of this is Duchenne’s Muscular dystrophy and colourblindness
d. An example of this is myoclonic epilepsy with ragged red stripes or pyruvate dehydrogenase complex difficency
e. Incorrect, this is normal base mutations

Question 3

Which of the following is correct?

  1. Haemophilia A is an X-linked disease and Haemophilia B is an autosomal recessive
  2. Huntington’s disease is an X-linked disease and cystic fibrosis is autosomal recessive
  3. Marfan’s is an autosomal recessive disease which is a connective tissue disorder
  4. Huntington’s disease is an autosomal dominant disease and Marfan’s syndrome is autosomal recessive
  5. Colour blindness and Duchenne’s muscular dystrophy are both X-linked diseases

The correct answer is option e Colour blindness and Duchenne’s muscular dystrophy are both X-linked diseases

This is correct as these are both examples of x-linked diseases
a. This is incorrect as these are both x-linked diseases
b. This is incorrect as huntingtons is an autosomal dominant disease
c. Marfans syndrome is autosomal dominant
d. Marfans is autosomal dominant, not recessive

Question 4

John and Amy are a couple who’s son was diagnosed with cystic fibrosis. They are enquiring about the risk to their next children. What is the probability of their next child being a carrier?

  1. 100%
  2. 50%
  3. 25%
  4. 12.5
  5. 0%

The correct answer is option b 50%

Both the parents are carriers, as they have an affected son, as CF is autosomal recessive, there is a 50% chance of being carriers, 25% unaffected and 25% affected
a. This is incorrect, as it is autosomal recessive, and none of the parents are carriers
c. This is the chance of the child being affected
d. This is incorrect
e. This would be impossible if the offspring was affected

Question 5

What does aneuploidy mean?

  1. A defect in the chromosomes
  2. The loss of one chromosome
  3. The gain or loss of one or more chromosomes
  4. The transfer of genetic material from one chromosome to another
  5. A mixture of different cell line

The correct answer is option c The gain or loss of one or more chromosomes

This is the correct definition of the aneupoidy
a. This is correct, but not the best answer
b. This is monosomy, a type of aneuploidy, but not the best answer
d. This is the definition of translocations
e. This is mosaicism

Question 6

Which of the following is correct?

  1. Downs syndrome is a trisomy of chromosome 18
  2. Edwards syndrome is a trisomy of chromosome 21
  3. Turners syndrome is a trisomy of the X chromosome
  4. Patau’s syndrome is a trisomy of chromosome 13
  5. Down syndrome is trisomy of chromosome 13

The correct answer is option d Patau’s syndrome is a trisomy of chromosome 13

This is the correct chromosomal disorder
a. Downs syndrome is trisomy 21, not 18
b. Edwards syndrome is trisomy 18 (Eddie’s 18), not 21
c. Turners is monosomy X, not trisomy X
e. This is incorrect, as Downs is trisomy 21, not 13

Question 7

A 25 year old man came to A&E after collapsing while jogging. He said he was jogging with his partner when he suddenly woke up on the ground. His partner said he just dropped to the ground with no warning and was back to normal within a minute. The partner didn’t mention any movements when he was down. What type of seizure is this most likely to be?

  1. Tonic-clonic
  2. Tonic
  3. Clonic
  4. Atonic
  5. Myoclonoic

The correct answer is option d Atonic

This has loss of conciousness as well as a limp body
a. This has the body stiffening and then rhythmic movements
b. This is a loss of conciousness with stiffening
c. This is rhythmic jerking movements
e. This is a jerking action of a select amount of muscles

Question 8

What is the mechanism of action of benzodiazepines?

  1. Enchance the effect of GABA
  2. Sodium channel blocker
  3. Increases serotonin
  4. Inhibition of T-type calcium channels
  5. Acetylcholinesterase inhibitor

The correct answer is option a Enchance the effect of GABA

Benzodiazapines increase the affinity of GABAa receptor to GABA
b. This is sodium channcel blockers
c. This is the MOA of SSRIs
d. This is seen in ethosuximide
e. This is seen in Donepezil

Question 9

Which of the following antiepileptic drugs is contraindicated in pregnancy?

  1. Sodium Valproate
  2. Levetiracetam
  3. Lamotrigine
  4. Ethosuximide
  5. Carbamazepine

The correct answer is option a Sodium Valproate

This is teratogenic so can cause foetal abnormalities
b. This should be Monitered, but isn’t contraindicated
c. This is the least teratogenic
d. This should be Monitered, but isn’t contraindicated
e. This should be Monitered, but isn’t contraindicated

Question 10

Which of the following is the best description of an absence (petit mal) seizure?

  1. Sudden onset of a rigid tonic phase followed by a convulsion in which the eyes remain open.
  2. Isolated, intense stiffening of the body or cessation of movement.
  3. Episode lasting for only a few seconds in which the individual stops activity, stares and pales.
  4. Episode lasting for several minutes in which the individual stops activity, stares and pales.
  5. Isolated falling and loss of consciousness.

The correct answer is option c Episode lasting for only a few seconds in which the individual stops activity, stares and pales.

This is the correct description of an absence seizure
a. This is a generalised tonic-clonic seizure
b. This is a tonic seizure
d. This is incorrect as absence seizures are only for a few seconds
e. This is a atonic seizure