Trisomy 12? - Mothering Forums
Forum Jump: 
 
Thread Tools
#1 of 4 Old 09-10-2010, 09:53 PM - Thread Starter
 
Dustyblue's Avatar
 
Join Date: Mar 2007
Location: Australia
Posts: 37
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Hello all,

I don't post much here at MDC but am having trouble finding info on this & thought someone here might know something....

My 6 y/o cousin apparently has a trisomy (or perhaps another issue) within chromosome 12. She's severely delayed, can walk somewhat but has no speech (can grunt and make other sounds though) and has various other challenges. Her facial features are pretty unusual. Her future health is apparently an unknown.

I say 'apparently' a lot because her parents are tricky to glean info from, they're happy to talk about their daughter but don't understand or take in much of what their doctors/carers have told them. My uncle is a little slow, and his partner has a known chromosome condition of some sort. She's lost a baby before due to it, and actually had genetic testing before her daughter's birth that was read incorrectly (ie, everything's normal when it wasn't).

Does anyone know any kids with a chromosome 12 issue? I just can't help but wonder what the future holds for this little girl.

TIA
Dustyblue is offline  
#2 of 4 Old 09-11-2010, 03:14 PM
 
askew's Avatar
 
Join Date: Jun 2006
Location: Villa Incognito
Posts: 2,546
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
I would recommend looking at this site.

http://rarechromo.org/html/home.asp

That is your best bet for finding info on that particular duplication.
askew is offline  
#3 of 4 Old 09-11-2010, 03:41 PM
 
bri276's Avatar
 
Join Date: Mar 2005
Posts: 6,050
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
In addition to the above,

http://www.chromodisorder.org/CDO/

this group has lists of individuals with rare chromosome disorders, links to research and a yahoo group to join to find others who are similar. Good luck!

DD1 7/13/05 DD2 9/20/10
bri276 is offline  
#4 of 4 Old 09-11-2010, 07:09 PM - Thread Starter
 
Dustyblue's Avatar
 
Join Date: Mar 2007
Location: Australia
Posts: 37
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Many thanks, I hadn't seen either of those.
Dustyblue is offline  
Reply

Quick Reply
Message:
Drag and Drop File Upload
Drag files here to attach!
Upload Progress: 0
Options

Register Now

In order to be able to post messages on the Mothering Forums forums, you must first register.
Please enter your desired user name, your email address and other required details in the form below.
User Name:
If you do not want to register, fill this field only and the name will be used as user name for your post.
Password
Please enter a password for your user account. Note that passwords are case-sensitive.
Password:
Confirm Password:
Email Address
Please enter a valid email address for yourself.
Email Address:

Log-in

Human Verification

In order to verify that you are a human and not a spam bot, please enter the answer into the following box below based on the instructions contained in the graphic.



User Tag List

Thread Tools
Show Printable Version Show Printable Version
Email this Page Email this Page


Forum Jump: 

Posting Rules  
You may post new threads
You may post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is On
HTML code is Off
Trackbacks are On
Pingbacks are On
Refbacks are Off