What to expect from a child who has chromosome 2 duplication

Sal - posted on 03/08/2012 ( 9 moms have responded )

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My daughter is 2 and has been diagnosed with chromosome 2 duplication p24.1 p22.3. She is globally delayed and doesn't talk yet.

She is involved for speech therapy, OT n much more but she still seems to take very long to learn.

I would like to know if anyone else are in similar situation and what I should expect?n how I can help her?

Helpp!

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User - posted on 12/26/2012

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Hello again,

I just wanted to let you know some really good news. My son has a partial microduplication at 2P22.3. His genetic doctor had us scared at the beginning of his journey trying to figure out what was causing him to be so delayed. He will be 5 next month and he has come so far. He can run, jump, walk completely normal now. He can swim without help now. He is really trying to talk. His main problem is he leaves off endings of his words and misprounces some letters like K, L, T, J, P, R. He talks up a storm now. He is hard to understand at times and a stranger would have a hard time understanding him but I'm so proud of him. He is talking and continues to get better and better. The best news is he is not mentally handicapped like I was originally told. The school did an IQ test on him. It was for nonverbal kids and he passed with flying colors. His reasoning skills are above average and he understands things on a normal level. He just is developmentally delayed with his expressive language skills. I'm so happy. I hope this helps you out some.

Kelley - posted on 04/18/2012

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Hi,



My son also has a duplication in chromosome 2P. His is duplicated at 2P22.3. His genetic doctor called his a microduplication. We found out when he was 3 years old. He is 4 now. He was also globally developmentally delayed. We had him in speech, ot and pt since he was around 20 months old due to all of his delays. Our genetic doctor told us there was no other documented cases in the U.S. so he didn't really have any answers for us. He gave us a worst case senerio. They believe chromosome 2 is the make up of the brain and central nervous system. When you have too much genetic material it confuses the body. I was told duplications are better to have than a deletion. We were told our son would probably never talk, would be mentally disabled to what degree the doctor was not sure of and all kinds of awful things that I didn't want to hear. But I have good news, doctors are not always correct. My son has sensory issues, has PDD, and until about two months was could only say mama and dada and a few simple words like bye bye and izzy for sissy. He mainly just pointed at things, had different grunts for different things. Two weeks before he turned 4 years old it was like a light went off in his head and he is actually saying all kinds of words now. he is saying small two word sentences. He just recently learned how to tee tee in the pot, he still can not poo poo in the potty. But we are working on it. He is 4 and operates on a two year old level now. But I believe he will catch up eventually because all of a sudden he seems to be doing so much better in all aspects.



I will be glad to answer any questions you have or help you with anything I know about chromosome 2 P duplications.

User - posted on 03/29/2013

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My son has a microduplication at 2P22.3. He just turned 5. He was globally delayed. He can walk and run just like any other child can now. He is still kindof clumbsy. He is still delayed with fine motor skills but he is getting there. His worst problem is his speech now. He has the speech of a two year old. But he is slowly but surely getting there. HE does a lot of babbling. He thinks he is saying words. He leaves off the ending sounds of words. He has a lot of pronouncation issues. He has a lot of texture issues with food and clothing.

He is going to start kindergarden in August 2013 so we just had an IQ test done. They had to give him a nonverbal IQ test because of his speech. He scored in his reasoning skills in the low normal range and scored in the low normal range for his understanding skills. So it looks like he is just a little behind in those skills.

I'll be glad to answer any other questions you have.

Thanks,

Kelley

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~♥Little Miss - posted on 04/28/2014

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Lana - posted on 09/10/2013

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Hello..i just found out my daughter has a duplication of 2 different Chromosomes..This is how it reads..706 kb interstitial duplication of 2p22.3_> 2p22.3;
and then the next line is 721 kb interstitial duplication of 7p22.3_>7p22.3
Can anyone help me out here does that mean she has a duplication in the 7 and the 2? i dont understand all this yet..anyone input would be appreciated..thank you..

Leanne - posted on 04/01/2013

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We are in the process of adopting a little guy with a chromosome 2q duplication (2q 36.3 to 37.1). We have started an online support group on facebook to hear about other stories along their journey. Please join us at: https://www.facebook.com/groups/428138540612297/#!/groups/428138540612297/

Leanne

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