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Anyone have a duplication on 15?

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  • Flash_NC
    My daughter is 14yo. We knew at 2 months she had delays but didn t know why. We ve had and MRI, EEG, Fragile X testing, and a few years ago cytogenetics
    Message 1 of 80 , Mar 20, 2001
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      My daughter is 14yo. We knew at 2 months she had
      delays but didn't know why. We've had and MRI, EEG,
      Fragile X testing, and a few years ago cytogenetics
      testing done for PWS. Well, the cytogenetics came back
      with a possible duplication on 15 at q12. She's not
      PWS and may not really have AS either. Because as you
      all probably know, PWS is a paternal deletion on 15
      and AS is a maternal deletion on 15. We have a
      duplication on 15. It was recommended that we have the FISH
      test done on my husband or myself, but we didn't do
      that. That was our choice because the doctors said it
      still wouldn't be a 100% diagnosis...and there was no
      cure. I'm now trying to get back to a geneticist for
      further testing. I'd like to have a diagnosis. My
      daughter has features of both AS and PWS but not all
      features of either syndrome. The neurologist we just met
      with last week said her vocabulary is too high for AS
      but she does have the happy puppet like demeanor. And
      I truly doubt it is PWS because her eating habits
      are not typical of PWS. However, she has the weight
      problem. Anyone else experience this too? I'd love to chat
      or post messages. <br><br>Flash_NC on yahoo...and
      FlashNC on AOL IM.
    • melissa
      ... YOUR ... yes i know how you feel.....my son has been tested many times...but no pos. results yet....he has only a clinical diagnosis at this point...its
      Message 80 of 80 , Nov 25, 2005
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        --- In familiesofangelmansyndrome@yahoogroups.com, "monicacarpio_3"
        <MONICACARPIO_3@H...> wrote:
        >
        > --- In familiesofangelmansyndrome@yahoogroups.com, starr5959 wrote:
        > >HELLO I HOPE ALL GOES WELL WITH THE TESTING ALL I CAN SAY IS GIVE
        YOUR
        > LITTLE ANGEL LOTS OF LOVE FOR HE/SHE SHALL RETURN IT DOUBLE!!!!
        > > we are still in the testing stage, so far
        > > everything has come back normal, even the EEG , but with all
        > > the seaching I have done, Anglemans fits the
        > > criteria, so far all we have heard is delay developemental
        > > delay but i think that will cahnge in time. will enjoy
        > > being part of your site, support is so helpful through
        > > the testing stage.
        > >
        >
        yes i know how you feel.....my son has been tested many times...but no
        pos. results yet....he has only a clinical diagnosis at this
        point...its very frustrating
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