Question Categories: Genetics


You read about mosaicism after reading a complex letter back from the genetics clinic about a patient who is thought to have inherited a condition which has this phenomenon. Which one of the following conditions cannot be caused by mosaicism?


Mrs Jackson is a 38 year old pregnant lady and has sadly found out that her baby has Trisomy 18. She sees you to find out 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?


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?


You are reading about inheritance patterns of muscular dystrophies after seeing a 3 year old boy in clinic with delayed motor milestones. What is the pattern of inheritance in Duchenne muscular dystrophy?


You are discussing conditions with X-linked dominant inheritance with your clinical supervisor. Which one of the following conditions is known to have this pattern of inheritance?


You speak to a 25 year old lady who is concerned about her family history of raised cholesterol. You take a thorough family history. What is the inheritance pattern for Familial Hypercholesterolaemia?


Jared is 55 years old and concerned about high cholesterol which he says seems to run in his family. You take a thorough history noting down which family members are affected and also examine Jared. Which one of the following criteria is used when Familial Hypercholesterolaemia is suspected?


You are discussing familial breast cancer with your clinical supervisor and look at the recent referrals made from the practice to the genetics service. Which one of the following referrals is inappropriate?


You receive a clinic letter about a 10 year old boy with Alport’s syndrome. Which one of the following inheritance types accounts for around 85% of cases?


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?


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