A child has been born with symptoms of a genetic disorder. Two hypotheses, both involving newly arising mutations (i.e., the mutations are not present in either parent) have been proposed. The first is Charcot Marie-Tooth syndrome, resulting from a duplication of a portion of chromosome 17, dup(17)(p11.2 p12). The second is DiGeorge syndrome, resulting from a deletion of a portion of chromosome 22, del(22) (q11.2).
a. What test or tests would you do to determine which hypothesis is correct?
b. Briefly explain to the childâs parents (who are not scientists and who must give permission for any tests) why you want to do this test (or tests), and how this test (or tests) will allow a correct diagnosis.
c. What results of your test (or tests) would you expect if the second hypothesis is correct?
A child has been born with symptoms of a genetic disorder. Two hypotheses, both involving newly arising mutations (i.e., the mutations are not present in either parent) have been proposed. The first is Charcot Marie-Tooth syndrome, resulting from a duplication of a portion of chromosome 17, dup(17)(p11.2 p12). The second is DiGeorge syndrome, resulting from a deletion of a portion of chromosome 22, del(22) (q11.2).
a. What test or tests would you do to determine which hypothesis is correct?
b. Briefly explain to the childâs parents (who are not scientists and who must give permission for any tests) why you want to do this test (or tests), and how this test (or tests) will allow a correct diagnosis.
c. What results of your test (or tests) would you expect if the second hypothesis is correct?
