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The extra ring chromosome was not found in the down syndrome critical

region. What exactly does that mean? I forgot to ask, and I can't

find much about it on the internet.

Thanks!

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There are some researchers who believe that one particular part of the

21st chromosome is responsible for many of the most serious effects of

Down syndrome (most of the intellectual impairment, the heart defects,

etc.). This part of the chromosome has been dubbed the critical region.

It is on the bottom arm of the chromosome (q) and in the region around

q22 (this basically means the bottom tip of the chromosome). If your

baby's extra chromosome is missing the q22 region, that probably is

good news for him and you.

(I think that recently some researchers have disputed that there is

such a thing as a critical region, and they argue that triplication of

any part of the chromosome could disrupt development.)

In any case, I know where the alleged critical region is because my

daughter is missing that part in some of her cells.... and from

personal experience, it IS a good thing to be missing that part.

Stokes, mother of (15, mDS) and Caroline (14)

>

> The extra ring chromosome was not found in the down syndrome critical

> region. What exactly does that mean? I forgot to ask, and I can't

> find much about it on the internet.

> Thanks!

>

>

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