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Question Categories: Genetics

AKT5-126

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?

AKT5-130

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?

AKT5-131

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?

AKT5-125

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?

AKT5-100

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?

AKT5-081

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?

AKT5-036

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?

AKT5-043

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?

AKT4-154

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?

AKT4-136

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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