Medical Genetics Questions

Medical Genetics Questions : 15 in total

Try to answer these questions as fully as possible before going to model answers. In the model answers you will find key learning points and a brief medical discussion section.

Q1 Cystic fibrosis: Sibling Carrier Risk

Q2 Breast Lump

Q3 Joint Pain

Q4 Recurrent Miscarriage 

Q5 Collapse

Q6 Acne

Q7 A 12 Year-old Boy

Q8 Drink Driving?

Q9 Hypocalcaemia

Q10 Cataracts

Q11 Multiple Fractures

Q12 Prenatal Diagnosis

Q13 A Visit to the Neonatal Ward

Q14 Polyuria, Polydipsia and Tiredness

Q15 Alpha 1 Antitrypsin Deficiency

 

Q1 Cystic fibrosis: Sibling Carrier Risk

Carol and Frank present to you at 10 weeks gestation. Carol’s brother has cystic fibrosis and the couple have come to you as they are concerned that their baby may inherit the disease.

Q1 Questions

  • What mode of inheritance does CF have?
  • What is the risk of Carol being a carrier?
  • What is the risk of Frank being a carrier?
  • What is the risk of the baby being affected by the condition?
  • What proportion of genes do we share with our first cousin?
  • What is the risk of a recessive condition in first cousin marriages?

Q1 Medical Discussion

  • A       Where these patients might be seen
  • B       Patient outcome in this case
  • C       Red flags
  • D       Differential diagnosis

Answers

Q2 Breast Lump

Barbara is a 36 year old lady who presents with a breast lump. Her mother had ovarian cancer at the age of 43 and a maternal aunt had breast cancer at the age of 40. Barbara has heard that some breast cancer can run in families and as she has Jewish ancestry, she was wondering if this might be the case in her family.

Q2 Questions

  • Is there likely to be a genetic inherited component to this pedigree?
  • Which genes could be involved / responsible?
  • Is the Jewish ancestry likely to be relevant?
  • What is the likelihood of this lady being a mutation carrier?
  • What factors need to be taken into consideration to calculate the risk of this lady developing breast cancer?

Q2 Medical Discussion

  • A       Where these patients might be seen
  • B       Patient outcome in this case
  • C       Red flags

Answers

Q3 Joint Pain

Harry is a 43 year old man who presents with joint pains. He is a diabetic and was treated for erectile dysfunction last year. He appears tanned. His sister is currently being investigated for cirrhosis.

Q3 Questions

  • What are the secondary causes of osteoarthritis?
  • What are the secondary causes of diabetes?
  • What are the secondary causes of cirrhosis?
  • What are the causes of skin hyperpigmentation?
  • What is the most likely underlying diagnosis given his sister’s cirrhosis?
  • Which chemical pathology tests would you recommend?
  • What is the most likely gene mutation associated with this condition?
  • What is the mode of inheritance in this condition?

Q3 Medical Discussion

  • A       Where these patients might be seen
  • B       Patient outcome in this case
  • C       Red flags
  • D       Differential diagnosis

Answers

Q4 Recurrent Miscarriage 

A 32 year old woman and her partner present with recurrent miscarriages. She has had four confirmed pregnancies with miscarriages between 6-10 weeks. Her mother also had two miscarriages. The maternal sister has profound learning difficulties.

Q4 Questions

  • What is the definition of recurrent miscarriage?
  • What are the causes of recurrent miscarriages?
  • Given the maternal sisters learning difficulties what is the most likely underlying diagnosis?
  • What investigations would you recommend?
  • What can be done to reduce the risk of further miscarriages or birth of a child with learning difficulties?

Q4 Medical Discussion

  • A       Where these patients might be seen
  • B       Patient outcome in this case
  • C       Red flags
  • D       Differential diagnosis

Answers

Q5 Collapse

A 25 year old man presents to accident and emergency on a Saturday afternoon after collapsing while playing basketball. He has sharp central chest pain, a weak left radial pulse and a mild pectus excavatum. His grandfather died from a suspected heart attack while pushing his car in Africa last year.

Q5 Questions

  • What other examination points might help to confirm a genetic cause for his current problem?
  • What is the cause of the weak left radial pulse?
  • What is the pattern of inheritance for this condition?
  • Which gene is affected and on which chromosome is it?
  • What are the main differentials for this condition and how might you distinguish them?

Q5 Medical Discussion

  • A       Where these patients might be seen
  • B       Patient outcome in this case
  • C       Red flags
  • D       Differential diagnosis

Answers

Q6 Acne

A 22 year old woman makes an appointment at the GPs to discuss her acne. She has also noticed that light patches have appeared on her arm after a recent holiday in Spain. She has a history of epilepsy. Her mother has recently been diagnosed with a renal cell carcinoma.

Q6 Questions

  • What is the underlying diagnosis?
  • What is the cause of her facial rash?
  • How would you examine her skin more closely?
  • What screening would you recommend?

Q6 Medical Discussion

  • A      Where these patients might be seen
  • B      Red flags
  • C      Differential diagnosis

Answers

Q7 A 12 Year-old Boy

A 12 year old boy is taken to see the paediatric endocrinologist because of obesity, abdominal discomfort and poor behaviour. His father previously had kidney stones and his older sister is being investigated for galactorrhoea.

Q7 Questions

  • What are the causes of galactorrhoea in a woman with no history of previous pregnancy?
  • What are the causes of kidney stones?
  • Which abdominal tumour can cause increased appetite and poor behaviour?
  • Which syndrome can link all of these things?

Q7 Medical Discussion

  • A      Where these patients might be seen
  • B      Red flags
  • C      Differential diagnosis

Answers

Q8 Drink Driving?

A 42 year old man is brought into accident and emergency by the police after being arrested for drink driving. No alcohol was detected on a breath test. He has slurred speech and appears uncoordinated. His wife had left him after he was diagnosed with depression. His father died from dementia at the age of 53.

Q8 Questions

  • What are the possible causes of chorea?
  • What are the organic causes of depression?
  • What are the causes of pre-senile dementia?
  • How could you link in his father’s dementia and what is the likely diagnosis?

Q8 Medical Discussion

  • A      Where these patients might be seen
  • B      Patient outcome in this case
  • C      Red flags
  • D      Differential diagnosis

Answers

Q9 Hypocalcaemia

A baby in the neonatal ward with a cleft palate starts to fit. The calcium is noted to be low. The father has recently been discharged from a psychiatric hospital with schizophrenia.

Q9 Questions

  • What are the causes of neonatal hypocalcaemia?
  • What are the syndromic causes of a cleft palate?
  • Which cytogenetic abnormality is linked to bipolar disorder and schizophrenia?
  • What is the most likely diagnosis?

Q9 Medical Discussion

  • A      Where these patients might be seen
  • B      Patient outcome in this case
  • C      Red flags
  • D      Differential diagnosis

Answers

Q10 Cataracts

A 36 year old diabetic is seen in the ophthalmology clinic with cataracts. He complains that he finds it difficult moving his hands after carrying bags in cold weather. His mother is in a wheelchair with a muscular dystrophy.

Q10 Questions

  • Which disease links cataracts, diabetes and autosomal dominant muscular dystrophy?
  • Why might this patient be presenting with symptoms earlier than his father?
  • What should this patient be told about any hospital admissions?

Q10 Medical Discussion

  • A      Where these patients might be seen
  • B      Red flags
  • C      Differential diagnosis

Answers

Q11 Multiple Fractures

A two year old child is brought into the fracture clinic with a fracture of the right radius and ulna. Other older fractures have also been observed. The mother claims she had numerous fractures due to horse riding as a teenager. On examination her sclerae are blue and teeth enamel is poor.

Q11 Questions

  • What are the causes of multiple fractures of different ages?
  • What conditions can cause blue sclera?
  • What makes the sclera blue?
  • Is the poor enamel linked to the other signs?
  • How is this condition inherited?
  • What tests could help make a diagnosis?

Q11 Medical Discussion

  • A      Where these patients might be seen
  • B      Patient outcome in this case
  • C      Red flags
  • D      Differential diagnosis

Answers

Q12 Prenatal Diagnosis

A 24 year old woman, Mrs F is eight weeks pregnant. Her maternal uncle died of a ‘progressive muscle wasting disease’ in his twenties. She brings a death certificate stating her uncle died of Duchenne Musclular Dystrophy (DMD). Her mother has a cardiomyopathy and does not want to know if she is a carrier.

Q12 Questions

  • Is this likely to be Duchenne muscular dystrophy?
  • Give three investigations which can help confirm a diagnosis of DMD.
  • Assuming that the diagnosis of DMD is correct, what is the risk if the baby developing the condition?

Q12 Medical Discussion

  • A      Where these patients might be seen
  • B      Patient outcome in this case
  • C      Red flags
  • D      Differential diagnosis

Answers

Q13 A Visit to the Neonatal Ward

You go to see a baby on the neonatal ward with seizures. The baby has macroglossia and asymmetry and weighs 4.5kg.

Q13 Questions

  • What are the causes of increased birth weight?
  • What are the causes of macroglossia?
  • What are the causes of asymmetry?
  • What quick bedside test would aid diagnosis and treatment?
  • What other features can be associated with body asymmetry?
  • Which screening tests should be offered?

Q13 Medical Discussion

  • A      Where these patients might be seen
  • B      Patient outcome in this case
  • C      Red flags
  • D      Differential diagnosis

Answers

Q14 Polyuria, Polydipsia and Tiredness

Mary, a 43 year old woman presents with polyuria, polydipsia and constant tiredness. Her sister, Anne, has hearing loss of unknown type and her mother, Iris, died from a diabetic coma at the age of 50.

Q14 Questions

  • What is the possible unifying diagnosis?
  • What is the inheritance pattern of this condition?
  • What chemicopathological test would aid the diagnosis?
  • Explain the role of progesterone in this process.
  • Name at least three causes of pancreatitis other than alcohol:
  • Mary’s urine underwent urinalysis: if the result had show low osmolarity and electrolyte levels, what might this have suggested?

Q14 Medical Discussion

  • A      Where these patients might be seen
  • B      Patient outcome in this case
  • C      Red flags
  • D      Differential diagnosis

Answers

Q15 Alpha 1 Antitrypsin Deficiency

A 45 year old man visits his GP. His newborn daughter has been diagnosed with alpha 1 antitrypsin deficiency after developing severe neonatal jaundice and breathing difficulties. He wants to continue smoking and has been advised by the respiratory physicians that he should have a carrier test.

Q15 Questions

  • How is the alpha-1-antitrypsin deficiency inherited?
  • Is the risk altered by smoking?
  • If carrier testing shows this man to be normal MM what are the possible reasons for this? How would you broach these possibilities?

Q15 Medical Discussion

  • A      Where these patients might be seen
  • B      Patient outcome in this case
  • C      Red flags
  • D      Differential diagnosis

Answers

 

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