Question Categories: Genetics


A 50 year old male presents with uncontrollable movements of his limbs over the last 5 months. He says he has been irritable also, and that his work colleagues keep calling him clumsy and fidgety. He recalls that his father had similar uncontrollable arm movements and passed away in his fifties. He knows very little …

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You are discussing familial breast cancer at a practice meeting and look at the recent referrals made from the GP practice to the genetics service. Which one of the following referrals is inappropriate?


You review a 7 year old girl with Down’s syndrome who is brought in by her mother for an annual health check. Which one of the below findings would you least likely expect to notice on examination?


Whilst working in General Practice you receive some letters back from the genetics clinics. With regards to inheritance patterns, which one of the following conditions does not match the others in the list?


You are discussing complex inheritance patterns with your clinical supervisor after seeing a patient with Klinefelter syndrome. Which one of the following conditions can also be caused by mosaicism?


Mia speaks to her GP at her 6 week post-natal check and has several concerns. Her baby, Sophie, has Down’s syndrome and she is concerned about associated conditions which she has read about online. Which one of the following conditions is not associated with Down’s syndrome?


You are discussing the inheritance patterns of various conditions with your consultant during a Paediatric clinic. Which one of the following conditions is not inherited in an autosomal recessive fashion?


A 3 year old boy presents with delayed motor milestones and Duchenne muscular dystrophy is suspected. What is the pattern of inheritance in Duchenne muscular dystrophy?


Mrs Jackson is a 38 year old pregnant lady and has sadly found out that her baby has Trisomy 18. She wants to discuss more about the condition and is unsure if she wants to go ahead with a termination. Which of the following statements about Trisomy 18 is least correct?


Mrs Salako is 25 years old and is ten weeks pregnant with her first baby. Booking bloods identified she has sickle cell trait (Hb AS). Her husband is known to have Sickle cell disease (HbSS). She is distressed today and would like to discuss the condition and what the chances are that her baby will …

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