A child has been born with symptoms of a genetic disorder. Two hypotheses, both

Question

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 child’s 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?  

Explanation / Answer

(A) For Charcot Marie-Tooth syndrome, many genetic test done by drawing blood, are available to test for many, common chromosomal defects causing CMT.

During physical exam, signs of muscles weakness in your arms , legs, hands, feet. and decreased muscle bulk in your lower legs, resulting in an inverted champagne bottle appearance, reduced reflexes.

For DiGeaorge syndrome, commonly diagnosed with a blood test called FISH Analysis ( Fluorescent In Situ Hybridization). A health care provider is likely to request a FISH analysis if a child has symptoms that may indicate DiGeaorge syndrome.

(B) Treatment may be recomanded if you child is diagnosed with these tests. Your child will likely benifit from a range of therapies.If your child has some health issues and developmental, mental health and behavioural problems can be addressed or monitored as needed.

(C) DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems including heart defects and learning difficulties.The severity of the condition varies. Some child can be severely ill and very occasionally may die from it, but many others may grow up without realising they have it.

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