ext_51519 ([identity profile] judifilksign.livejournal.com) wrote in [personal profile] judifilksign 2009-09-29 08:48 pm (UTC)

I'm thinking that this geneticist is looking primarily for causitive agents for autism specifically. Sparkle's deletion, being so small, is in her words unlikely to be a sole reason for her autism, and it is much more likely that a number of reasons/genes are the cause. Certainly we're the first in *her* database with this deletion and this study.

My husband comments that the geneticist said that Sparkle's deltion was a small one within the 9p23, so the researcher might actually have what segment within the gene narrowed down even more specifically, and not have matches for that piece.

Sparkle does not have many of the hallmarks of a lot of the things expressed on 9p, although she does certainly have some.

But yeah, I'll be contacting this UNIQUE group in the UK. More support than "boy aren't you all doing such a great job with her" is always good.

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