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NBME 4 Section 3 # 9 - drock
#1
A couple, II, 2 and II,3 in the pedigree shown, has just learned that their 3-year-old son has fragile X syndrome. The woman's sister-in-law is currently pregnant, but the couple does not want to tell anyone in their family about the diagnosis. Which of the following actions by the physician is most appropriate concerning informing the sister-in-law?
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 thought the answer would be C... but according to the key the answer is E.
Is it possible that where a couple is not informing to the family about their pregnancy outcome, I will tell that woman that her Sister in laws need family counselling?!? Even if I tell her your Sis need family counselling... her next question will be why? So what would I answer then to her? I think answer choice C may increase heat in the family and also btn the physician and patient (Sis in law).

Anyone... please explain. Thanks a lot.
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#2
thanks for posting the question....yes I agree with u... CC is my answer

--also fragile x syndrome is transmitted by X linked recessive pattern (hence the son got it from the mother( II, 3 in the pedgree) ) ...look at the pedgree the father is not affected (the box is clear) ...

1---sister in law ( II, 1 in the pedgree)= sister of one's spouse

2---the father of the affected son (II, 2 in the pedgree) is not affected ...making his mother ( I, 2 IN the pedgree highly unlikely to have the affected x chromosome ...even if there is a chance)

3---also the father of the sister in law (I ,1) is not affected (the box is clear )...

4-points 1,2 and 3 makes it unlikely (even if there is a chance) for the sister in law to have the abnormal x chromosome ...no need to panic

overall keep the confidentialty ...
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#3
thank you yeabiruh... again... awesome explanation.

And correction in my last line
"I think answer choice E may increase heat in the family and also btn the physician and patient (Sis in law)".

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#4
how about if the fragile X syndrome was likely to affect the sis in law child? in that case i would go with B, right?
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#5
CCC is my pick as yeabiruh explained

(answer key got typo on this one)
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#6
Fragile X syndrome is X-linked dominant disease but male could be carrier also, according to Wikipedia.
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