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Question Categories: Genetics

MSRACLIN5-020

A 26 year old woman is advised to see her GP after superior lens dislocation is identified in both eyes by the ophthalmologist. On examination, her height is 1.93 metres and her weight is 90kg. She has long fingers, hypermobility and kyphoscoliosis. She has an early diastolic murmur. What is the most likely diagnosis?

MSRACLIN5-021

A 22 year old woman presents to an infertility clinic after failure to conceive for the last 2 years. On examination, her height is 1.35 metres and her weight is 68kg. She has short fingers, noticeably the 4th and 5th metacarpals, with a broad chest, webbed neck and cubitus valgus. What is the most likely …

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MSRACLIN5-022

A 26 year old man presents after failure to conceive with his partner for the last 2 years. On examination, his height is 1.89 metres and his weight is 94kg. On examination, he has gynaecomastia and narrow shoulders with wide hips. Looking through his notes, he had delayed developmental milestones. What is the most likely …

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MSRACLIN4-049

John is a new patient at your surgery and attends to discuss the chance of him passing on an inherited condition to any future children. He tells you he has a X-linked dominant condition. What is the chance of him passing on this condition to a son, providing his wife does not carry the condition?

MSRACLIN4-050

You see a married couple who want to start trying to conceive but are worried about passing on Gaucher disease to their baby. Both mother and father are carriers for Gaucher disease. What is the chance that their baby will be born with Gaucher disease?

MSRACLIN4-051

Mr Jones is 57 years old and presents with fatigue, joint pains, erectile dysfunction, and weight loss. Serum ferritin is raised at 2100 μg/l (30 – 400 normal range in males) and there are mildly elevated liver transaminases. Based on the likely diagnosis, what is the likely inheritance of his condition?

AKT7-130

A 26 year old woman is advised to see her GP after superior lens dislocation is identified in both eyes by the ophthalmologist. On examination, her height is 1.93 metres and her weight is 90kg. She has long fingers, hypermobility and kyphoscoliosis. She has an early diastolic murmur. What is the most likely diagnosis?

AKT7-131

A 22 year old woman presents after failure to conceive for the last 2 years. On examination, her height is 1.35 metres and her weight is 68kg. She has a short fingers, noticeably the 4th and 5th metacarpals, with a broad chest, webbed neck and cubitus valgus. What is the most likely diagnosis?

AKT7-132

A 26 year old man presents after failure to conceive with his partner for the last 2 years. On examination, his height is 1.89 metres and his weight is 94kg. On examination, he has gynaecomastia and narrow shoulders with wide hips. Looking through his notes, he had delayed developmental milestones. What is the most likely …

AKT7-132 Read More »

AKT7-023

Mr Jones is 57 years old and presents with fatigue, joint pains, erectile dysfunction, and weight loss. Serum ferritin is raised at 2100 μg/l (30 – 400 normal range in males) and there are mildly elevated liver transaminases. Based on the likely diagnosis, what is the likely inheritance of his condition?

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