Chromosome 16 duplication

My 3 year old daughter was diagnosed with a rare chromosome abornormality of the 16th chromosome.I have been to a genetic doctor several times and so far there is no other known case reported with her chromosome duplication. I just saw this and thought id post about it on here to see if anyone is going through what i have been going through . we are just on a wait and see whast happens with my daughtger . her biggest delay is speech. we are very lucky that there is nothing serioulsy wrong with her. it still hurts though that she cant communicate with us .


This discussion is related to Rare chromonsonal deletion in 2-year-old?!.

[Dragon1973]

Hello Miahlilsi,

Welcome!  I read your post, and I am glad you found us here.  You might also want to visit my other group Children - Special Needs, simply if you are interested in getting some ideas on how to communicate with your daughter!  I would suggest signing, since my son and his peers with Down sydnrome do use signing extremely well to communicate because many young children with Down syndrome (Ds) also have speech delays.  And the signing has been a wonderful and very well tolerated method for communication.  It's a very rewarding and often fun way to get to communicate well with one another.  I know how frustrated mom's feel when they can't communicate with their children the way the would love to.

In talking about the 16th chromosome, have you researched any groups near you that are or have parents/children with other chromosomal abnormalities?  The reason I ask is that as you are looking here to see if any have also had or discovered a similar 16th chromosome issue, you may more likely find them in those play groups!  I know in the parent/child group I created here locally were I live, there are lots of moms who have children with all kinds of rare chromosomal issues!  While my sons Ds is typical (21st chromosome) it is interesting to me how many other genetically enhanced (as I love to call our kiddos) kids are out there, and what types!

Now, I guess in order for me to completely understand your daughters karyotype, you mentioned a 16th chromosome duplication.  Is it a complete pair duplication?  Is it just one part of the chromosome that is duplicated - long arm or short arm?  There are so many possibilities, and the situation your daughter has is what might have made it rare, according to your geneticist.  I wanted to say, (and this is only from experience) I have found that when mom's are told that it is rare, the truth of the matter is, it's rare for that doctor or geneticist, but not in the population.  Did they specify how rare, in the percentage or in the statistic?  I would be interested to know that too.
Something that I found for you, (which you may have seen already) is from a site I generally pass on to people who want information on genetic situations:  "Duplication of the same 600 kb segment of chromosome 16 that is missing in 16p11.2 deletion syndrome may result in similar symptoms as the deletion in some individuals. People with this duplication may have developmental problems including autism spectrum disorder, language delay, and learning disability. The duplication appears to have a milder effect than the deletion, with a higher proportion of individuals with this chromosomal change showing no apparent disability. These individuals can still pass along the duplication to their children, who may have symptoms of this condition."  This site is :  http://ghr.nlm.nih.gov/chromosome/16
This site is rather comprehensive in all genetic material and I find it so very useful in case you are interested.
The thing I do know is that Chromosome 16 has a lot of common abnormalities (if we can call abnormalities common) which are usually deletions, which is why your doctor may have suggested that what your daughter has is rare.  One thing additionally I am curious about is do you or have you had her karyotype done to determine if she has the mosaic form of this syndrome?  (Mosaic being that it doesn't' affect all cells as the majority of chromosome issues do since it is at the gene level, which affects all cells of the body and all organs subsequently, unless mosaic.)

I do hope, if even you don't discover other mom's or people out here in MedHelp that have similar concerns that you are able to make some connections to help her or assist you and your daughter in the communications department!  Which made me also think to ask you, is she entered into any developmental programs?  Being in the USA (I am Canada), you are entitled to Early Intervention programs which are free for you and your daughter from birth to usually school age or 6 years old, where they will help you with such things as development, (physical or comunication) and this would be extremely beneficial for you and the whole family!  And the best thing is, it's free, and she certainly qualifies.  I do not know if you ahve been told about this yet, or how long you have had the diagnosis, but the programs are so wonderful, and they are what is responsible for my son developing at a typical or above typical rate with all his milestones.  I completely have EI (early intervention) to thank, along with my son's determination, and I guess mine too.  

I hope that if this is all new to you, I can help to guide you, (I am a parent guide here locally for diagnosis dealing with genetics, by our hospitals genetics department).  Please do message me if I can be of any assistance to help provide you information or maybe guide you in any direction should you need it.  If not, I will presume you already have this information, or are getting the appropriate support from your local departments.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[Miahlill2]

i sent you a message

[cead]

Miahlill2

I sent you a personal email. check your inbox.

Cead

[leahkho]

miah, i really want to chat with you.. we have four members in our family with a duplication of 16p11.2-16q12.1 ....   i have found over 20 families with duplications , after googling heaps, although there are many many families with deletions instead of dups.  i would love to share our story with you and hear about your journey..  please message me back
leah  x

[amandajohnson733]

Hi Mia,
My name is Amanda and I am a foster carer we have just gfound out that our foster daughter whom we class as our own has a duplication of chromosome 16 and like you our doctor told us it was rare but wouldn't or couldn't tell us anymore about it so it is a wait and see for us also, my daughter is 9 years old and the most talkative and lovable little girl.
I would love to talk to you about the condition and share any information that either of us can get.
me email is ***@****
regards Amanda

[amandajohnson733]

Hi Mia,
My name is Amanda and I am a foster carer we have just gfound out that our foster daughter whom we class as our own has a duplication of chromosome 16 and like you our doctor told us it was rare but wouldn't or couldn't tell us anymore about it so it is a wait and see for us also, my daughter is 9 years old and the most talkative and lovable little girl.
I would love to talk to you about the condition and share any information that either of us can get.
me email is ***@****
regards Amanda

[16ppeople]

We have a mother and daughter with 16 p11.2 duplication. Please tell me everything you know about this.

[16ppeople]

We have two cases already  of mother and daughter. Please send all information you have on this duplication.

[Artymum]

I have recently found out my middle daughter ( aged 14) has a duplication of Chromosome 16, she has complex special needs including delayed/poor speech, learning difficulties, A.D.D, obsessive/compulsive behaviour, dyspraxia...among others....sounds awful but she is a lovely girl and considering her problems does very well. Both me and her father had a test and the results came back today saying he has the exact same abnormality that she has. Now this is a shock as he doesn't have the problems mentioned above, although he is a bit odd, loud and flat footed. Seems that no two cases are the same and we should read all gleaned info as general not specific.
We've got an appointment to speak to a Geneticist about the implications.  

[Artymum]

and to add a note to Mia (although this may or may not be expected with your daughter) mine had severe speech delays for many years, she could say the first part of a simple word ( usually to do with a want/need) but not the end so it has always been difficult to understand her, even for me as her mother. She would babble but nothing made sense. She was taught simple Makaton ( a form of sign language) but because of her dyspraxcia even this method of communication was not totally successful. She was SO frustrated and obviously her behavioural problems were intensified. Only in the last year or so has her speech become easier for others ( mainly teachers) to understand, and now her sentences have become more descriptive. We take one day at a time and there is progress in all areas although slow.

[angieg26]

Hello, I have a 27 year old daughter who was diagnosed as having a "tag" on her 16th chromosome, when I was 6 months pregnant they performed an amnio. I asked what this meant, they said they didn't have any case studies to reference, so it has been a wait and see game her entire life. Back then we didn't have the internet or anything, and the geneticists followed her progress until she was about 13 years old, but I still never received any answers, it was always, wait and see, wait and see. She is non-verbal, which has been one of the most difficult things because she does have many other issues and it is difficult for her to communicate where it hurts, etc. According the the specialists, after testing her dad, me and her brother, this was just a "fluke", as it doesn't come from either side of the family. She has neither an extra chromosome, or is missing any other chromosome, there is simply a "tag" on the 16th, but it doesn't come from anywhere else.
I was just wondering if anyone else had ever heard of this, or would have more information for me to research?
Thank you in advance.

[lisaob1]

keep searching and pushing for answers,have you and your partner had your blood taken,.

[cead]

I think they have some 16p dup people at www.rarechromo.org

[Tweetie0523]

Hi, my name is Tracy and I have a daughter who was diagnosed with Chromosome 16 duplication 16q24.2q24.3 Development delay. We have asked the doctors what might be her outcome in life and no one can tell us. I was told that it’s a rare chromosome. I have tried looking out on the website for answers and have found nothing on the chromosome.  We notice that she wasn’t reaching her milestones and just thought she was taking her time. It was when she turned 1 that we realized that something was wrong. She wasn’t sitting, crawling or trying to walk on her own. She is almost 2 and we just got her to sit for 6 minutes without any support. The doctors say that she has low muscle tone. But she’ll fight me when I put her in a sitting position. It seems like she progressing, but at a very slow rate. I’m just trying to find out if anyone else out there has heard of this or is going through the same thing I am.  

[milosmom495]

My Son who is 6 has a duplication of the 16p 11.2 he has a learning delay, speech delay, skin disorders, sensory issues and has been in the hospital for several days for an unknown sickness that has similar symptoms as lukemia...and Kawasakis disease.  he is also anemic and has several allergies...