They name the chromosome disorders based on the effected chromosome...ie.
> trisomy 21 (three copies of #21 is called Down Syndrome). We are part
> of several large organizations that compile data for families in our situation.
> Sadie as of right now is the only with her diagnosis. Therefore,
> there isn't a name for one person with one thing. Of the chromosomes
> there are numerous possibilities for error. Like the likely hood of
> the lottery numbers being drawn. Sadie has a diagnosis....del8p23.3
> with extra xp22.2....no one else has that same karotype. It was a
> complete shot in the dark that another chromosome was
> affected...angelman which is the 15th chromosome. She has most of the severe Angelman Syndrome characteristics. The geneticist felt
> like Sadie ought to have more cognitive and language based on the
> minor amount that her chromosome 8 is missing. But now we know that
> she is severely affected by this minor mutation in her chromosome 8.
> At this time she has had the most sophisticated genetics testing and the result is Sadie is Sadie.
