[tri-med] Re: American Journal of Medical Genetics

Hi Kim,

Do you know what gene bands are involved? Uf you do, you may be able to zero in 
on something. My son's trisomy 15 ring is made up from part of the short arm to 
a good chunk of the long arm, p10-q15.5?. The question mark is because they 
don't know where the breakpoint is exactly...somewhere between q15.5-21. The 
region to be most concerned about is q11 or q11.2.

This is an imprinted, volatile region. Microdeletions stemming from the 
father's side can result is Prader-Willi, and from the mother's side it's 
called Angelman's. Two totally different syndromes. While they typically arise 
from a microdeletion, I have read where a duplication or isodicentric 15 is 
known to be the cause. Isodicentric 15 also stems from this area, and usually 
the duplication only involves the gene band q11 or q11.2 and an extra 
centromere.

Here is a parent-based website for isodicentric 15 and related chromosome 15 
disorders:

www.idic.org

Please let me know if there is anything else I can steer your way, or if you 
want to talk, I can send you my phone # off list.

Take care,
Wendy
mom to Ryan, James, and Warren (9) mT15r
BC, Canada

----- Original Message -----
From: Kim Ihlenfeldt <kimihlenfeldt@xxxxxxxxxxx>
Date: Thursday, November 30, 2006 1:27 pm
Subject: [tri-med] Re: American Journal of Medical Genetics

> For e-mail, I have MSN hotmail.  As for the journal, I was looking 
> up 
> Duplication 15 Syndrome and saw that there might be an article for 
> my 
> daughter's chromosome disorder (at least a part of it).  She 
> doesn't fit 
> into the Idic/Isodicentric 15 because she has so minimal extra 
> chromosome 
> 15.  I keep trying to find someone with similar chromosome 15 so I 
> can try 
> to get some info.  As far as the geneticists that I have talked to 
> know, 
> there is no one similar to her.  So I just keep trying to find 
> info on my 
> own.  Thanks to everyone who has been so helpful.
> 
> 
> >From: "Karen" <karens@xxxxxxxxxxxxxxxx>
> >Reply-To: tri-med@xxxxxxxxxxxxx
> >To: <tri-med@xxxxxxxxxxxxx>
> >Subject: [tri-med] Re: American Journal of Medical Genetics
> >Date: Thu, 30 Nov 2006 18:13:39 +1100
> >
> >----- Original Message -----
> >From: "Kim Ihlenfeldt"
> > > Does anyone know how to get to this webiste or where to go for 
> >information
> > > about this publication?
> >
> >I am not sure exactly what you are after Kim?
> >The American Journal of Medical Genetics is a Wiley publication 
> and you can
> >access it from their web site
> >http://www3.interscience.wiley.com/cgi-bin/home
> >However - it costs big money to be able to read articles or print 
> them off
> >unless you have library access through a University library for 
> example.>Your local library usually wont be able to give access. 
> University 
> >libraries
> >pay thousands of dollars each year to give students access. 
> Additionally 
> >you
> >will need to know exactly what article you are after - its not 
> easy to
> >browse the articles. Much easier to use MESH terms. Thats best 
> done through
> >medline or pubmed.
> >
> >Is there something in particular that you are after? John Carey 
> is the
> >editor or I may still be able to get access myself - not sure (I 
> don't have
> >the money to stay a member of my university alumni with library 
> access as
> >much as I would love unrestricted access to journals)
> >
> > >>Also, is there a way to have information
> > > automatically signed on at the bottom of our e-mails so I 
> don't have to
> > > type
> > > everything out each time?  Thanks.
> >
> >What mail program are you using? It can be done, depends on your mail
> >program as to how to do it.
> >
> >Life consists not in holding good cards but in playing those you 
> hold well.
> >                                             -- Josh Billings
> >
> >Keep Looking For Rainbows!!
> >    _--_|\
> >  /Karen \
> >  \ _.--._ /
> >           v Karen, Mum to Alex (12 years, T-18 Mosaic)
> >http://members.optushome.com.au/karens
> >
> >                   Building ___ooOOoo__ Rainbows
> >                        www.trisomyonline.org
> >                   Families Helping Families On-line
> >
> 
> _________________________________________________________________
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>                  Building ___ooOOoo__ Rainbows
>                       www.trisomyonline.org
>                  Families Helping Families On-line
> 
> 
                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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