Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

["Vern Green" <EMAIL:PROTECTED>]

 

The left thumb is "nonopposable" and "finger like" -- those are the terms
I'm seeing for that kind of thing in OMIM.  Certainly there are not many
known conditions that cause that trait and Holt-Oram is one of those
conditions.

Do you have good health insurance?  I'm surprised that they didn't do a
more thorough workup.  Did they do any cytogenetic analysis?  In this case
they can go straight to chromosome 12 (12q24.1) and look for mutations in
the TBX5 gene.  I would have thought that cytogenetic analysis would
always be ordered when idiopathic heart defects are seen, but it isn't my
area.

 

Yeah, I actually do have some good insurance. The only work up they did was a chromosome test, the pediatrician called for that as he saw a "*****" line on the palm of his hand. (I cannot remember what he called it) The pediatrician thought he might have mild downs syndrome, but that test came back negative. He did admit that the chomosome test would not detect Holt-Oram.

> You might also notice another genetic trait. This one he and I clearly
> share, as does my older son, my sister, and I think my mother. We all
> had the crooked little finger. I do not think that trait is tied in
> anyway to what we are seeing here with Holt-Oram, but maybe I am wrong.

I don't know.  Is it only on your left hand?  Sometimes the same gene will
cause mild symptoms in some family members and more severe pathologies in
others.

 

No, it is on both hands, it is on both hands of my sister and my oldest son as well. I remember this coming up in school, they talked about this being a genetic trait, kind of like a widow's peak hair line. I was the only kid in my biology class that had them and everyone was quite surprised, I never had noticed it before then.

-- 
Thanks
F Vernon Green 
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