NBME 4q

[diet_dr_thunder]

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Paraphrased:
Couple has boy recently diagnosed with fragile X. The couple does not want to tell anyone in their family about the disease. Husband's sister is now pregnant. What should you do?
A ) Ask for a third party to mediate the communication
B ) Insist that the couple contact the pregnant woman
C ) Keep the diagnosis confidential
D ) Offer to contact the pregnant woman directly
E ) Recommend family counseling

I like C. Thoughts?

 

[MeowMix]

This is a trick question. Draw the pedigree and you will see that there is only one good answer.

 

[emily69]

This is a trick question. Draw the pedigree and you will see that there is only one good answer.

yup, I agree. Fragile X is one of those trinucleotide repeat diz plus it is also X-linked. If it's the husband's sister, and assuming that the husband doesn't have Fragile X syndrome, then she(the sister) is not a carrier. The carrier is the wife (the mom of the boy who has Fragile X syndrome). You can safely assume that the husband doesn't have Fragile X syndrome because he is fertile and most people with an IQ of between 20-60 don't marry! 😛 So no need to spill the beans to the pregnant sister, since there is no issue to begin with.

 

[bivwack]

.......... most people with an IQ of between 20-60 don't marry! :.........

that is a great high yield fact