DiGeorge syndrome

So he could learn to spell and he could do other stuff, but math and critical thinking skills were like impossible for him.

So there are actually a lot of people, there's a book, what is her name? Educating children, I think it was educating children with VCFS at the time.

But there's a lot more information out there now than there was with Mikey.

He had a developmental disability, but also he had some peaks, so many peaks and valleys.

They are much rarer in the general population than common SNVs, but when they are present, they carry massive clinical significance.

The textbook highlights a very striking high-yield example of this, 22q11.2 deletion syndrome, which is historically also known as DeGeorge syndrome or velo-cardiofacial syndrome.

Yes.

This is an autosomal dominant micro deletion on the long arm of chromosome 22.

I like this one, Greb 1L, because it kind of looks like gerbil.

heard of that one either but that's my favorite but I do like yeah anything that looks like an actual word I appreciate that more so the gerbil gene that's you don't want to have the gerbil gene and so I was kind of proud of myself for this next one I saw 22q11 and I thought way back in my mind to pathology days in medical school and DeGeorge syndrome so that's DeGeorge syndrome and I even looked it up and I said isn't this DeGeorge and Chat GPT said, yes, it is.

Good job, Dr. Evans.

And so there's some associations with DeGeorge syndrome and having OVIRO.

Some other genetic or copy number of variants, 16P11, 15Q11.

There are some familial cases that exist, including siblings and even monozygotic twins, interestingly, therefore implying a genetic ideology.