Human genome 6
rcjohnsen at aol.com
Mon Jul 23 23:01:28 EST 2001
<< Subject: Re: Human genome 6
From: Gandalf Parker postmaster at 127.0.0.1
Date: Tue, Jul 10, 2001 4:14 PM
Message-id: <3B4B29D5.1E7DB88A at 127.0.0.1>
Anders Gorm Pedersen wrote:
> Gandalf Parker wrote:
> > I have a son who was diagnosed C6p+ 20 years ago by military doctors.
> > They did a few papers on him and had us prepare for an early death. They
> > did some searchs of world medical librarys and found no matchs (none
> > that werent ummmm trans-locates? something like that)
> - Gandalf (very nice name by the way!)
Well it used to be unique until I got on the internet. Now I cant use it
anywhere because some kid has snagged it as a handle. But as far as I know Im
oneof the few people who really have it as a name. Love the looks when they say
"is that german?" and I reply "no, its elvan".
> genetic material, compared to a normal chromosome 6. In some cases this can
> be caused by a so-called translocation. Put simply, that's when a piece of
> one chromosome has "broken off" and gotten attached to another chromosome.
> (But apparently that was not the case for your son.)
Good read. Yes its extra protein with no trans-locate. We dont really consider
it a disorder. It has its Pros and Cons. Dont want to set anyone off here since
this isnt my group but they referred to it as "spontaneus natural mutation"
which I was actualy able to accept easier than disorder.
> There has been tremendous progress in the ability of doctors to analyze
> chromosomes over the past 20 years, and chances are that a lot more
> information is available now. However, there are two caveats: (1) there are
> so many possible chromosomal disorders that any particular one may be
> unique, having no exact matches in any other person. (2) The ability
> to characterize chromosome aberrations does far from always translate into
> knowledge about how to best help a person with that particular disorder.
He is 22 years old now. Wasnt supposed to live past 6 based on the only info
availalble at the time but all of those were trans-locates. Its just that since
I retired from the military there isnt really any doctors forwarding info or
watching for any. Im wondering if I should get in contact with anyone to insure
that info he can provide the databases is being included. Is there a central
clearing house in the USA for the human phenome project?
Oh, thank you for the RareChromo.org link. That looks quite interesting.
The technology for determining the breakpoint of the translocation and
determiing genetic causation has increased tremendously over the last 20 years.
However, I'm not sure that would be of any benefit to treating your son.
Cytogenetic analysis at many hospitals has imporved dramatically and
referral of treatment facilities through them has also improved. You might
start your path at such a cytogenetic facility
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