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Kaplan Qbank USMLE



Author3 Posts
  #1

20 y.o man has no retinoblastomas but has produced two children with multiple retinoblastomas, in addition his fathers has 2 retinoblastomas as a young child and one of his siblings has 3 retinoblastomas
Explanaton for absence of retinoblastomas in this man ?

A. Highly variable expression of the disorder
B. Incomplete penetrance
C. Multiple new mutation in other members
D. New mutation in the affected individual which has corrected the disease causing mutation
E. Pleiotropy

  #2

B. Incomplete penetrance

  #3

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