Human genome 6

Anders Gorm Pedersen gorm at cbs.dtu.dk
Tue Jul 10 08:12:26 EST 2001


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)
> 
> Im wondering what has occurred in that area. Who do I check with to see
> if  there is any interest in getting more updated info on him, or maybe
> letting me know if any more is known.

- Gandalf (very nice name by the way!)

I'm no expert on chromosomal disorders, but hopefully you can use some of 
the pointers listed below. First, C6p+ (as far as I know) means that the 
short arm (the "p-arm") of your sons chromosome 6, has some additional 
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.)

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.

The number one resource for finding scientific literature is probably the 
medline database, for instance see NIHs pubmed:
  
  http://www.ncbi.nlm.nih.gov/PubMed/

However, this will point to rather technical information....

I think the best source for useful information is one of the many support 
groups that exist now. In some cases these can put you in contact with 
parents of children having similar chromosome aberrations. Here's a few 
links along with some links to general introductions to chromosome 
disorders:
  
  http://www.chromodisorder.org/index.html
  http://www.RareChromo.org/
  http://www.chromodisorder.org/intro.htm
  http://www.chromosome18.org/what.htm

Hope some of this is useful!

Kind regards,
Anders

-- 
Anders Gorm Pedersen, Ph.D.  
Center for Biological Sequence Analysis, www.cbs.dtu.dk
Technical University of Denmark




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