clar697
Forum Guru
Topics: 190
Posts: 199
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A 4-year-old boy is brought to the physician by his parents because of global developmental delays and odd behaviors such as hand flapping. His mother has a learning disability, and his maternal uncle has mental retardation. Physical examination shows macrocephaly, large ears, and a prominent chin. He has a 3-word vocabulary. A diagnosis of fragile X syndrome is made. After the parents are informed of the results, they ask if their healthy 12-year-old daughter, who has met all developmental milestones, should be tested to determine her carrier status. Which of the following responses by the physician is most appropriate?
A) “I recommend testing her now so that she can be prepared for what may lie ahead should she have children.”
B) “I recommend waiting until she is older and mature enough to decide for herself if she would like to be tested.”
C) “It would be better is she were at least 16 years of age, closer to her childbearing years, before testing was initiated.”
D) “Let’s discuss this situation with her, review the pros and cons of testing, and then ask her is she would like to be tested now.”
E) “Let’s hold off on that and discuss the options with her when she is planning to marry and have children.”
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| hitesh
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Topics: 61
Posts: 972
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E) “Let’s hold off on that and discuss the options with her when she is planning to marry and have children.”
I'm not sure though,, this is a weird question..
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| SpeaksSoftly
Forum Senior
Topics: 11
Posts: 146
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B
Genetic testing of minors is not ethical according to the AMA. I have a friend with Huntingtons and they have three daughters, the geneticists cannot test their daughters until they are 18 according to the law. I would hesitate to mention marriage or having children in this case because that is presumptious. However option B leaves the onus on the patient when she is ready for the info.
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| clar697
Forum Guru
Topics: 190
Posts: 199
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This is an odd question. 
I chose A. In the event that the 12-year-old female is a carrier, I thought it best for all to be informed as soon as possible. I was unaware of the AMA guidelines for genetic testing on minors. Isn't it most important to prevent unwanted disease? Well, Speakssoftly, I defer to you since you seem to be a behavioral guru.
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| a3112
Forum Newbie
Topics: 2
Posts: 64
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should be A i guess..
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| alirizvi
Forum Senior
Topics: 16
Posts: 163
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i think its E.
The only reason i disagree with B is because she doesnt need to get tested really if she has met the developmental milestones. However it should be concern to her only if she decides to have children. I dnt think its A because parents have just found out about 1 child and u dnt want to give them another bad news and besides they should let her decide and not decide for her.
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We are what we repeatedly do. Excellence, therefore, is not an act, but a habit. - Aristotle.
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