Special Needs

Genetic Syndromes not on microarray

I'm looking for a complete list of genetic syndromes that need to be tested for separatly because they do not show up on a microarray test. Syndromes such as fragile x, Praeder Willie, angelmans, etc.

I've Googled it but I've come up short. Does anyone have a list like that or know where I could find one?


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Re: Genetic Syndromes not on microarray

  • Are you working with a geneticist? You could go a little cray-cray with Dr. Google and genetics...

    You could try looking up stuff on www.rarechromo.org or www.chromodisorder.org

     

     

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  • Yes I'm working with a geneticist. I just am a micro manager when it comes to medical stuff. I don't take a doctor as gospel. I need to check and verify. Maybe that is wrong, but so far it has worked well for us and got us help that would have been over looked.


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  • there are like a million, I would think.  Quite literally.

    My son has an XLID, which needs to be tested for specifically.  I would think you would need to be working with a geneticist because there are probably lots out there that your son doesn't have the indication to test for.

     

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  • While I can understand wanting to make sure that your child is tested for all applicable syndromes, I would go with the recommendations of the geneticist based upon delays and characteristics presented by your child.
    dx: Fragile X Syndrome
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