Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

["Jonathan King" <EMAIL:PROTECTED>]

On Wed, Mar 12, 2008 at 11:05 PM, Mike Miller <EMAIL:PROTECTED> wrote:
> On Wed, 12 Mar 2008, Jonathan King wrote:
>  >>
>  >> 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.
>  >
>  > I don't know if there are really any others that also account for the
>  > cardiac symptoms.
>
>  Right.  It really is looking like Holt-Oram but there could be a lot that
>  I don't know.

I've pounded through OMIM pretty hard, though, and there isn't very
much else out there that has been described much. But "coincidence" is
still a slightly plausible hypothesis when the alternative is a 1 in
100,000 genetic disorder.

>  > OK, but the gene is like 47 kilobp and there are lots of known point
>  > mutations. They might have done a full karyotype, but that might not
>  > have shown anything, there are lots of things that can cause heart
>  > issues, and the hand issue, although visible, is pretty subtle.
>  > Holt-Oram is a rare disorder.
>
>  They definitely wouldn't normally find Holt-Oram from the cytogenetics,
>  but they would have been looking for other things like small insertions or
>  deletions.  They probably did that and found nothing.

They might have, but they may have just done a standard karyotype
looking for trisomy of chr. 21. Sure, that would annoy somebody like
you, but is it really true that most places do chromosomal painting
these days?

>  >> I would have thought that cytogenetic analysis would always be ordered
>  >> when idiopathic heart defects are seen, but it isn't my area.
>  >
>  > Nor mine, but see above. Do you have some specific test in mind here?
>
>  Just what I just added above.  The usual screening for micro
>  insertion/deletion.

I'll bet you $5 they just did a karyotype with Giemsa staining. That
would be payable as one beer at a brew pub the next time we're in the
same city at the same time. (Oh yeah: are you going to either APS or
the BG meeting in Louisville?)

jking

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