CHROMOSOME 16 11.2 12.2 DELETION

Michele - posted on 09/13/2009 ( 22 moms have responded )

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MY DAUGHTER HAS CHROMOSOME 16 11.2 12.2 DELETION AND THERE ARE ONLY 4 OTHER KNOWN CASES OF THIS SPECIFIC DELETION IN THE WORLD I WOULD LIKE TO CONNECT WITH OTHER MOTHERS WHO HAVE CHILDREN WITH SIMILAR IF NOT THE SAME DELETION.

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Rachel - posted on 11/28/2012

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There is a good closed Facebook page for chromosome 16 conditions, a lot of useful chat about all sorts of issues. Once you join you can read loads of previous post and ask questions. There are people from all over the world so it's good to hear how other health services work etc & about individual kids. X

Leentje - posted on 11/28/2012

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My son also has a microdeletion chromosome 16P 11.2. We live in the Netherlands.

Can you tell me something more about youre daughter?



Kind Regards,

Sarah - posted on 03/16/2011

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I just found out my daughter has a small deletion on chromosome 16. I don't know much about it yet, but I would like to connect as I learn more.

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Barbara - posted on 12/14/2013

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My son has Chromosome 16 12.2 deletion and a variant of uncertain significance. variant of 5 14.3. Haven't been to genetic doctor yet. Anyone else have this diagnosis?

Maggie - posted on 02/22/2013

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Hi My daughter was diagnosed with a chromosone quaduplication of 16p 11.2. she is 10 yrs old and has struggled since she was born. Developmental pediatrician has said he feels she is on the autism spectrum (PDD) When we had the test her father and i were tested and found out that we also had chromosone duplications 16p11.2 . I'm wondering if anyone is dealing with this same thing . We decided to not go any farther with testing. (we felt what would testing do it wouldn't change how we felt about her we love her unconditionally)

I have become very worried and would like to connect with others dealing with this. I now have 5 children counting my daughter all of my children have some special needs and i wonder at times if they could possibly have the chromosone duplication. thanks I look forward to hearing from people in the same boat.

Anna - posted on 02/07/2013

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My daughter also has a 16p 11.2-12.2 microdeletion and just turned 4. There is a group called Unique (Rare Chromosome Disorder Support Group) that also has a lot of good information on their website www.rarechromo.org. I would love to hear anyone else's story so far... it sure is a special journey. My daughter has taught me lessons in life I otherwise never would have learned.

Rachel - posted on 10/25/2012

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Hi, would love to hear your story, my daughter has a 16p 11.2-12.2 deletion. She has just turned 1. We have only just received the diagnosis although I knew there was something from day 1 even although nobody else really seemed too.

JustSimpleInfo - posted on 10/20/2012

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Mr. Mom back again.... Hello to all the moms. The good thing is that you know your little bundle of joy has a deletion, so you can start to do your OWN research and keeping a folder, binder, list of websites that helps you and your case.



1. Don't read just all the BAD things that develop or can develop from the type of deletion that your bundle of joy has.

2. No matter what you believe in, GOD or not, just be thankful to whom or whatever, that you have your bundle of joy every day.

3. Contact your local Major hospital, and ask if they have a Genetics Division, and if they do not, ask where do they refer, or suggest to go for your area, for a genetics test, if you haven't already done so.

4. And this one is a big one, DONT take no for an answer or don't take what the first Dr. or physician assistant tells you, unless you read it for yourself, don't take what they say at face value. I won't get into details, but I can't count how many times it took me getting stern, and putting some base in my voice, and using my big guy size to get it across to the so called experts that I need them to be sure and check, and double check, etc.

5. My daughter is 3 and half years old now. She had a minor heart surgery that was successful, she has a tiny little device in her heart, she has had to have a few ear procedures because of multiple ear infections.......... and I could go on and on, but I won't!!!!

6. The point I am trying to make is treat your little one as a normal baby, but make sure Dr's and specialist do not treat her like a normal child and make sure they always check for everything.

7. One of the things my daughter does have is low oxygen levels sometimes, more than normal than the average child, so a few times she had to be rushed to the hospital by ambulance. That is just my case, every case is different. My daughter is behind developmentally, but if you were to look at her you wouldn't know, and she learns at her own pace we push her when needed, and on her own time she will display brilliance and learn something that we didn't think she learned. She cannot say complete sentences yet, but she does have a vocabulary, and she is in a specialized program in our local school district just for "special needs" kids, but there is only 4 kids in her class and 4 teachers so its GREAT one on one time and she is learning.

8. Back to the point. Document everything. Document who you talked to. Check your insurance to make sure things are covered. Check with your local ADHD/child with disabilities center, almost all major cities have one, or its part of a major university like it is here locally where I am. But if you have one, usually there is a specialty class, program for parents to take there kids. Before my daughter went into the local school district, she was in a specialty program for 1 year olds to 3 year olds to help them. It was only for a few hours a day, but it helped her when it came to transitioning to the school district program. They even came to our house to help our daughter learn and play and teach us ways to help her improve.



9. There is a whole bunch of help and things to get you started in just about every area. Do know, that it won't be handed to you. It was new to me, because my first daughter is normal(can any kid really be normal???), but my second daughter all this was new to me, and some people do want to help, and other places you have to let them know you are serious and want answers or if they don't have answers, give and direct you to the nearest person that has the answers, or you as a parent need to do your own research and keep your own binder, and facts and what ifs, so when you start to get all the bits and pieces of information from different resources, you can put your own pieces to your own puzzle together, and you too, will get to the point where I am. My daughter does have a disability, it does hinder her, but overall, she is healthy right now, and the love and care that she gets from her family will help her get through each day, each week, each year.



Hopefully this helps, any specific questions just ask, and or check out my blog.



http://jsimple.hubpages.com/hub/Chromoso...



http://jsimple.hubpages.com/hub/CHROMOSO...



http://jsimple.hubpages.com/hub/Chromoso...

Rachel - posted on 10/18/2012

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I have just found out my daughter has deletion on the 16 short arm 11.2-12.2. We have not been tested yet. Would really like to talk to people with the same. Not sure how this community works but would love to hear from somebody.

Joanne - posted on 09/15/2012

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i found out january this year my son has chromosome 16p 11.2. all they have been able to tell me is that its rare and not many people have it.

JustSimpleInfo - posted on 07/26/2012

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No Dr. knows or can say for sure about any of the deletions, there just hasn't been enough studies compared to other things like AIDS.

JustSimpleInfo - posted on 07/26/2012

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My daughter has a deletion of the 16q22.1 to q22.3 chromosome. It has been a challenge, trying to find any info, but I believe we are all in the same boat. Not one place is really concentrating on the various different deletions, they are looking at a few and then watching the similarities with other conditions that maybe related to your specific deletion.

Stacey - posted on 05/01/2012

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hi my son has just had tests back for recurrant chromosomes micro delection 16p 12.2 ive tryed looking it up on web and i think im worry myself, reading into things to much im unhappy that the doctors never explained this to me propperly just sent a letter me and his dad have had blood tests to day

JustSimpleInfo - posted on 04/30/2012

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Hey, moms, I am actually a father. I am like you, I have searched and searched, and decided to write about my beautiful daughter and her missing chromosome. You never know what is really going on in the world until it happens to you, and Chromosome deletions is HUGE across the world, its just that we all have a unique situation and its hard to find that unique information for our little one. I am here to join in to help, so we can all help our children.



My daughter has a deletion 16q22.1 to q22.3 chromosome. It is extremely rare, and very very few known cases, but we are doing our best to help her





Below is a blog that I have about my soon to be 3 year old with her Deletion. For the last 3 years we have been in and out of the hospital and specialist, but she has remained strong.



http://jsimple.hubpages.com/_15xkqoebwnk...

Sandra - posted on 03/26/2012

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I just found out my two children have a micro deletion of chromosome 16 11.2 12.2

Sandy - posted on 01/18/2012

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Does she have the deletion on the short arm (P) or the long arm (Q)? My 10 month old has the same deletion on the long arm. so hers is 16q 11.2-12.2 deletion.

Jennifer - posted on 04/06/2011

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I just found out that my son, who is autistic, has a deletion of chromosome 16. Now I am trying to find more information so that I can understand more about it.

Sarah - posted on 03/16/2011

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I just found out my daughter has a small deletion on chromosome 16. I don't know much about it yet, but I would like to connect as I learn more.

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