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12q Chromosome Deletion

What is 12q Chromosome Deletion?

12q Chromosome Deletion is a rare disorder characterized by the deletion of chromosome 12q.

 

12q Chromosome Deletion is a rare disorder characterized by the deletion of chromosome 12q.
Acknowledgement of 12q Chromosome Deletion has not been added yet.
Prevalence Information of 12q Chromosome Deletion has not been added yet.
Synonyms for 12q Chromosome Deletion has not been added yet.
May be inherited or de novo
Physical developmental delays (sitting, crawling, walking) Language developmental delays Low muscle tone Small in size (weight and height)
Blood test
Diagnostic tests of 12q Chromosome Deletion has not been added yet
Physical, Occupational, and Speech therapy. Treat the symptoms each child has.
Prognosis of 12q Chromosome Deletion has not been added yet.
Tips or Suggestions of 12q Chromosome Deletion has not been added yet.
References of 12q Chromosome Deletion has not been added yet.
Seizures? Created by Frath
Last updated 31 Mar 2013, 07:54 PM

Posted by Frath
31 Mar 2013, 07:54 PM

Thanks Elizabeth and Rachel for your feed back it is much appreciated. Kathleen

Posted by hhmom
31 Mar 2013, 02:15 PM

Hello, our son is 2 and we haven't had any seizures, but honestly, I wouldn't new surprised if he ever does get them. His deletion is 12q12, and one of the genes has to do with epilepsy. However, since it is deleted, I'm not sure how that affects him. Not much help, but keep the questions coming if you have any. Blessings, Rachel.

Posted by wazzuplizard
31 Mar 2013, 10:09 AM

Hi! My son has not had that problem so far, but i have a facebook group called "chromosome 12q deletion" my name is Elizabeth Anderson from california, united states. In our group we have about 30families who have children with 12q deletions and i know for sure one of them have a child whom is about that same age and she has seizures . I would love for you to join our group! Feel free to email me at wazzuplizard@yahoo.com anytime if you have questions. My son jason is 2 1/2 and has chromosome 12q deletion , 12q21.2q21.31

View Full Thread (1 more posts)
12q12 deletion impacts Created by kdega1
Last updated 31 Mar 2013, 10:30 AM

Posted by wazzuplizard
31 Mar 2013, 10:30 AM

@claireatsmiles, tinx36, and monique- we have a facebook group called "Chromosome 12q Deletion" and have about 30families with kids who have this disorder i would love to have you all join! Or look me up Elizabeth Anderson, we are in california, united states my 2 1/2 yr old jason has 12q21.2q21.31 and Kirrilly is in our group as well as a few other ladies from this site. Email me anytime as well @ wazzuplizard@yahoo.com hope to talk to you all soon!!!

Posted by kdega1
9 Feb 2013, 09:41 AM

Hi, Congratulations your achievements. Its a long and difficult road. Our facebook group is growing and while I wish none of our kids had these issues the support has been amazing. Most kids have muscle tone issues but do eventually get there so have hope. My almost 3 year old started walking at 28 months and is now running and climbing on everything. I do have to admit while its tough I really appreciate every milestone. I also have a 6 month old who appears to have some delays too so may be facing the same long road ahead. My advice is to fight for therapy as it really does help, however, know it is a though road and realise that its ok if you can't do therapy every day. Love your child and encourage every little step. If you are faced with negativity be strong and stand for what you believe in. Also feel free to email me kdega1@yahoo.com.au

Posted by Tinx36
4 Feb 2013, 10:41 PM

Hello evryone, well mason 3 on 22/3 his has his third new pair of piedro boots today and walks a bit wobbly holding hand or holding onto furniture. He tends to drag right foot a little. Since sept he has started the orchard school in nursery mornings its a sen school. Fantastic!!!!! Although very tired when he comes home. Only on bottles frutini still not interested in food but gaining weight. He weighs 12kg but still a little tot. As for speech can say mommommom, dadadadad, aide ( sadie lol) so getting there. At school they say he does walk beta with frame but like evrything they are still waiting for his, in the process of chasing up. Touch wood after the horrible scare xmas 2011 he hasnt been in hospital poorly. As for facebook still not on but look for paul and melodie williams or melodie and paul williams cant remember which way. Hope evryone else is doin ok tke care love mel x

View Full Thread (40 more posts)
Facebook Created by wazzuplizard
Last updated 20 Mar 2013, 02:28 PM

Posted by wazzuplizard
20 Mar 2013, 02:28 PM

Hi everyone! Its been awhile since I've been on here. I from the United States in California, my 2 1/2 yr old Jason has Chromosome 12q deletion (12q21.2q21.31) .For those of you that don't know, I have a Facebook group called Chromosome 12q Deletion , if you would like to join and meet the families there from all over the world. We have over 30children with this disorder and we have been learning more about chromosome 12q disorders than we have from our doctors. Please feel free to contact me on Facebook so you can be added to the group. My name is Elizabeth Anderson, Facebook group - Chromosome 12q Deletion, or email me at wazzuplizard@yahoo.com

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Seizures?

Created by Frath | Last updated 31 Mar 2013, 07:54 PM

12q12 deletion impacts

Created by kdega1 | Last updated 31 Mar 2013, 10:30 AM

Facebook

Created by wazzuplizard | Last updated 20 Mar 2013, 02:28 PM


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