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?
- Trisomy 21
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.