A female patient presents for an evaluation for primary amenorrhea. She is noted to be short of stature and have short fourth metacarpals. What diagnosis do you suspect?
A. XO
B. XXY
C. XXX
D. XXXY
E. 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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If you are studying for the PANCE or the PANRE I recommend these Review Books.