Genetics Flashcards

1
Q

Failure to thrive + chronic cough + loose bowel motions

A

Cystic fibrosis

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2
Q

Light brown skin patches + skin tumours + axillary freckles

A

Neurofibromatosis type 1

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3
Q

Pallor + jaundice + hepatosplenomegaly

A

Thalassaemia major

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