After reintroducing Matthew to her,
Me: "Is there a way we can get a picture of Matthew's chromosomes?"
Her: "Well, yes, but only if the duplication is large enough to see in the karyotype. Just call the lab." {For a fun explanation of a kayotype, visit this site.}
Me: (chuckling a bit) "Pretty sure it will be large enough."
I told her the story that when we were searching for his diagnosis, Matthew's blood work was sent to Boston to test for a particular genetic disorder, and the researcher called to say 'He doesn't have this particular disorder, but you will definitely want to look at his 4th chromosome'. I saw the recognition come across her face-- "Oh I do remember Matthew! Yes, it will certainly be big enough."
It was a delightful process-- quick and easy. I called the lab, Darren signed a release form, and the picture showed up in my inbox. And yes, the duplication is pretty obvious.
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The really long 4th chromosome is the unique one, with 10 extra segments. It is his longest chromosome, and it should be his 4th largest. |
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