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Kaplan Qbank USMLE



Author3 Posts
  #1

A 6 month girl who is normal at birth, begins to shows signs of motor retardation, while she could shit up at 5 months, she can no longer do so, As time goes on the girl continue to deteriorate and unresponsive to visual and auditory stimulus

Funduscopic exam shows peripheral macular pallor with accentuation of the reddish color of the choroid centrally in the macula in both eye
Which is the genetic mechanism for this condition

A. Confined placental mosaicism
B. Trinucleotide repeat
C. Frame shift mutation
D. Non-disjunction
E. Translocation

  #2

i think its framesheet mutation Tay sac's disease

  #3

yeah, i share the same answer







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