Genetic disorders

Question 1

22 y/o presents with sudden loss of vision in right eye. Subluxation of right lens, midsystolic click is heard on auscultation, and dilated aortic arch and floppy mitral valve is seen on echocardiogram. 
P'ts brother has similar symptoms.
What is the genetic defect? 
What protein does it effect? 
What chromosome?

Answer 1

Marfan Syndrome 
FBN1 gene 
Cr 15 
Fibrin gene product (scaffold for elastin) 
FA 83

Question 2

Child presents with dyspnea. Airway obstruction is seen on exam. Radiograph shows hematoma in airway.
PT is NL but PTT is increased. Mixed serum test results in a NL PTT.
What disease?
Treatment?
How could female get this diease (genetically)

Answer 2

Hemophilia A (VIII) or B (XI)
Desmopressin
Random X inactivation
FA 397

Question 3

28 y/o man presents with general malaise and weight loss of 2kg in past month.
Diagnosed with mild enmia but no lymphadenopathy or hepatosplenomegaly.
Distal femur shows necrosis and node aspirate shows infiltration of cells looked like crinkled tissue paper.
Dz?
WHat enzyme defect?

Answer 3

Gaucher disease
Glucocerebrosidase
FA 111