Saturday, July 28, 2012

Karyotype Picture

At the special needs fair last week, I ran into Matthew's genetic counselor. I have been meaning to call her for the longest time, but it isn't high priority and has fallen so far down my to-do list that it has fallen off.  So, when I saw her I was quite excited that I could finally ask her my question.  

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.  

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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