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  • Understanding FISH Results

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    Old 08-30-2013, 12:46 PM   #1
    GagirlstuckinPA
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    Understanding FISH Results

    Our first grandbaby was born 2 weeks ago and we suspected down syndrome. A FISH test was performed with a positive result of Trisomy 21 with 6 cells affected. His pediatrician has been completely useless in helping us understand (yes, we are looking for a new one now) and we have an appt with a genetic specialist, but its not until November. Can anyone help us understand what the 6 cells affected may mean? We understand the Trisomy 21, down syndrome diagnoses, we are unsure of the other part. Is the cells affected something that clues us into the severity by chance? Thank you for any help you can offer.

     
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    Old 10-09-2013, 06:41 PM   #2
    kanded
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    Re: Understanding FISH Results

    Hello Gagirl:
    First of all, I am sorry that your grandbaby was born with a genetic disorder, but information is your friend, so its good that you are researching things.
    I can't help you too much with the genetic part, but I have had a baby with Down syndrome. From what I understand about the FISH test, it only determines how many copies of the chromosome are present, but can't tell you any details about the structure of the chromosomes. Therefore, we had the karyotype test done which is more comprehensive even though it takes about 2 weeks to get the results.
    If I could say one other thing not related to your question:
    What I've been advised that has helped me, is first and foremost, is to realize that you have a new baby, and try not to worry too much about what you don't have to worry about right now. Just enjoy your new grandbaby. There's plenty of time to worry about the future.
    One thing that IS important to do at this stage, is to start with the therapies as soon as possible. After my baby was born, they started putting him on his tummy right away to strengthen his muscles in his neck and back. The worst enemy my child has had to deal with is his hypertonia(or low muscle tone).
    Never forget that Down syndrome does not define who your grandson is, anymore than diabetes defines who a person is that suffers from it. Its just a condition that he has, but he will have his own personality and talents that come from your family. You sound like a very caring grandmother, and as your grandson grows, you will have wonderful times with him, just as we are having with our child.
    Best wishes for you and your family, Kanded.

     
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