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Question 1

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Genes and development

Options:

  1. CYP21
  2. FGFR3
  3. HOXD13
  4. PAX3
  5. SHH
  6. SOX9
  7. WT1

Each of the patients below has a disorder caused by a mutation in a developmental gene. Select the relevant gene from the available options.

1
Scenario 1

 
This baby has holoprosencephaly. This can be caused by chromosome abnormalities such as trisomy 13 (Page 57) and by mutations in several developmental genes including SHH. See Page 174.Incorrect. See Page 174.Your answer has been saved.
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2
Scenario 2

 
This child has achondroplasia, one of several disorders of skeletal development caused by mutations in FGFR3. See Page 172.Incorrect. See Page 172.Your answer has been saved.
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3
Scenario 3

 
This child has a form of female pseudohermaphroditism. The most common cause of this is congenital adrenal hyperplasia. Her collapse at the age of 6 days is probably due to lack of cortisol and mineralocorticoids. See Page 179.Incorrect. See Page 179.Your answer has been saved.
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4
Scenario 4

 
This child has male pseudohermaphroditism. The subsequent discovery of an abdominal tumour, probably a Wilms tumour, suggests a diagnosis of the Denys-Drash syndrome. See Page 179.Incorrect. See Page 179.Your answer has been saved.
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5
Scenario 5

 
These features point to a diagnosis of Waardenburg syndrome, one form of which is caused by mutations in PAX3. See Page 175.Incorrect. See Page 175.Your answer has been saved.
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