Hi,
Thanks for the replies. Where Elysium writes, "I'm just curious how you are so sure that this person's 22q11.2 DS was inherited from his parents?" I never said this, maybe someone else did. In 90% of the cases the deletions are random. But ironically this persons sister has a son who has Downs. Where Elliemay writes, "convincing someone to do the test if cocaine is in the mix". This and his extensive pot smoking has totally confused the issue. His brain simply does not work. He cannot add even simple numbers together, also he cannot do very simple subtraction. He had learning difficulties around the time he entered high school. And now his brain simply does not work, unless you are talking about very simple tasks. It seems and most likely is the case where the brain has died sufficiently to render him very feeble minded. The symptoms he has are as follows:
1. Severe mental illness ( as if brain does not function)
2. Squared off upper ears
3. Extremely long face
4. Small stature
5. No muscle tone whatsoever
6. Hyper nasal speech
7. Very long fingers
8. Difficulty swallowing
9. The others like low calcium levels, I do not know either way - I never asked the parents.
10. There are most likely more symptoms, I just don't know what to look for.

But what complicates the whole thing is the parents want to believe his condition is cocaine related. This may take the stress off them that what happened to their only son has nothing to do with them. Spontaneous deletions has nothing to do with them. 10% of the time it is inherited.

The bottom line is this. You can't have something be something just because you want it to be so.

Holly