The Daily PANCE and PANRE Question 43

A female patient presents for an evaluation for primary amenorrhea. She is noted to be short of stature and has short fourth metacarpals. What diagnosis do you suspect?

  1. XO
  2. XXY
  3. XXX
  4. XXXY
  5. Trisomy 21

Answer: A

XO

This is the genotype for Turner's syndrome. XXY is the genotype for Klinefelter's (which is a tall, mildly retarded male). Trisomy 21 is Down's. The other two are not common genotypes.

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