05-24-2015, 07:40 PM
A 4yearold 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 -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 metal developmental milestones, should be tested to determine her carrier status. Which of the following responses by the physician is most appropriate ?
A) recommend testing her now so that she can be prepared for what may lie aheadif she has children.
B) "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 if she were at least 16 years of age, closer to her childbearing years, before testing was initiated.
D) "Lets discuss the situation with her, review the pros and cons oftesting, and then ask her if she would like to be tested now.
E) "Lets hold off on that and discuss the options with her when she is planning to marry and have children."
guys gave different answer for this question
I go with E
cause fragile X is X-link restive affects male and female usually carrier but female could has the disease if the is methylation of the normal X
the female is 12 yrs old and she is normal >>> may be she is carrier
so the answer between E and B but answer E talk about options
please share ur opinion
A) recommend testing her now so that she can be prepared for what may lie aheadif she has children.
B) "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 if she were at least 16 years of age, closer to her childbearing years, before testing was initiated.
D) "Lets discuss the situation with her, review the pros and cons oftesting, and then ask her if she would like to be tested now.
E) "Lets hold off on that and discuss the options with her when she is planning to marry and have children."
guys gave different answer for this question
I go with E
cause fragile X is X-link restive affects male and female usually carrier but female could has the disease if the is methylation of the normal X
the female is 12 yrs old and she is normal >>> may be she is carrier
so the answer between E and B but answer E talk about options
please share ur opinion