Genetics Community
Chromosome 16 duplication
About This Community:

This patient support community is for discussions relating to a person’s predisposition to a variety of medical conditions such as Alzheimer’s, blood-clotting disorders, breast cancer, cystic fibrosis, diabetes, Marfan syndrome, and Ehlers-Danlos Syndrome.

Font Size:
A
A
A
Background:
Blank
Blank
Blank
Blank Blank

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?!.
Related Discussions
25 Comments Post a Comment
Blank
1227139_tn?1367231533
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
Blank
1409346_tn?1284152750
i sent you a message
Blank
Avatar_m_tn
Miahlill2

I sent you a personal email. check your inbox.

Cead
Blank
Avatar_f_tn
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
Blank
Avatar_n_tn
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
Blank
Avatar_n_tn
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
Blank
Avatar_f_tn
We have a mother and daughter with 16 p11.2 duplication. Please tell me everything you know about this.
Blank
Avatar_f_tn
We have two cases already  of mother and daughter. Please send all information you have on this duplication.
Blank
Avatar_f_tn
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.  
Blank
Avatar_f_tn
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.
Blank
2118921_tn?1334765259
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.
Blank
Avatar_f_tn
keep searching and pushing for answers,have you and your partner had your blood taken,.
Blank
Avatar_m_tn
I think they have some 16p dup people at www.rarechromo.org
Blank
Avatar_m_tn
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.  
Blank
4385152_tn?1353796464
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...
Blank
Avatar_m_tn
My smart bright beautiful 2 year old daughter also has a speech delay and a micro-duplication on chromosome 16 with no other apparent issues thus far. We were also told is was very rare. How is your daughter doing? Have you been able to uncover any further information that you might be willing to share?  We are so blessed but its still been a scary process. Thank you.
Blank
Avatar_m_tn
I have a step-nephew who has a duplication of chromosome 16, which we were told by the Doctor of Genetics at TX Children's Hospital that it can cause 1. behavior problems, 2. autism, 3. intellectual disability.  He has 1 and 2 but has an average IQ of 101.  We are struggling with him since he's also ADHD..
Blank
Avatar_m_tn
We just received genetic testing results for my 13 year old son.  He has a duplication of 16q24.2.  He has an intellectual disability, hyperkinesis, developmental delays, etc...  He was diagnosed with autism when he was 2, but after a lot of work and progress, he lost that diagnosis. Would love to meet anyone with kids with this same duplication.
Blank
Avatar_m_tn
Hi there,

I have just read your post with interest.

We have been told today that my 3 year old daughter has this 16 chromosome problem to what degree I am unsure and will find out more when I see the doctor in 48 hours.

She is showing symptoms of autism. I noticed that your son had his autism diagnosis revocked - AMAZING!- what help were you able to get him that made this happen?

Any advice you could give me I would appreciate so much I feel like this is a nightmare and all the light has been stolen from the end of the tunnel.

Thankyou,

Coralee

My email address is coralee.***@****
Blank
Avatar_f_tn
I have a duplication on 16q24.2. I was told at the time (Sept 2011) that it was 'not yet listed on the international databases as a benign copy number variant (CNV)'. I have no idea what that meant, and have been unable to find out anything further. I was diagnosed with Asperger Syndrome in 2009, at the age of 36.
Blank
Avatar_f_tn
I have a duplication on 16q24.2. I was told at the time (Sept 2011) that it was 'not yet listed on the international databases as a benign copy number variant (CNV)'. I have no idea what that meant, and have been unable to find out anything further. I was diagnosed with Asperger Syndrome in 2009, at the age of 36.
Blank
Avatar_m_tn
Hello
We have a 7 year old daughter who has duplication on the 16th chromosone 16p11.2.  We found this through extensive genetic testing when she was only 18 months.  We did testing because she was meeting most of her milestones except her head size was always smaller and then it dropped into the 5% and less, she also didn't crawl on schedule, and it took her almost 20 months til she walked.  Both my wife and I were tested and had no history of anything and we were told this was unique to her and like others on this forum were told there was no syndrome and we just had to wait and see and as long as she was progressing, even if slowly, we will just have to wait and see.  We also got tested because we were having more children and we have two younger children who dont have any delays or characteristics like our daughter. For our daughter we had her in early intervention, and extra therapy, we were always told she had low muscle tone, and she still has speech therapy, we can understand her now, but even through last year it was hard to understand her.  She does have many delays in school, speech, physically, reading, writing, math, pretty much everything, but she is progressing slowly but consistently.  She is not in Special Education, but she does get some special services, but she is in the normal classroom for most of the day.  She is very social and loving and happy and funny.  We have been trying to get her more help in the education system and more testing to see what services she can get, so I started doing more research and all of a sudden I found this forum and other sites and studies regarding this syndrome, where 5 -6 years ago, the doctors at CHOP, childrens hospital of phila. didn't have any more info. other than they had found a mother and daughter with the same syndrome who were both healthy and fine and that we just had to wait and see with our daughter.  I would say for those here with infants toddlers or for those just learning about this,   rarechromo.org, has a good explanation about it, and you can print it and share with your doctors, therapists, early intervention directors, schools teachers, etc, because it will help them understand.  I would also recommend to get your child as much early intervention, private therapy, physical therapy, speech, etc, as you can if you are seeing delays with your child.  We feel we have done and are doing everything we can for her, and we are actually educating the school teachers, counselors and psychologists about her condition so they can help and guide us to give her everything that can help her.  Sorry for the long message, I just thought I would put this out there.  If anyone has any info. about older children or people with the similar condition and level where my daughter is, Id love to know anything that we might expect about future development, health,  social issues etc. Thanks for reading and sharing.
Blank
Avatar_m_tn
Hello
We have a 7 year old daughter who has duplication on the 16th chromosone 16p11.2.  We found this through extensive genetic testing when she was only 18 months.  We did testing because she was meeting most of her milestones except her head size was always smaller and then it dropped into the 5% and less, she also didn't crawl on schedule, and it took her almost 20 months til she walked.  Both my wife and I were tested and had no history of anything and we were told this was unique to her and like others on this forum were told there was no syndrome and we just had to wait and see and as long as she was progressing, even if slowly, we will just have to wait and see.  We also got tested because we were having more children and we have two younger children who dont have any delays or characteristics like our daughter. For our daughter we had her in early intervention, and extra therapy, we were always told she had low muscle tone, and she still has speech therapy, we can understand her now, but even through last year it was hard to understand her.  She does have many delays in school, speech, physically, reading, writing, math, pretty much everything, but she is progressing slowly but consistently.  She is not in Special Education, but she does get some special services, but she is in the normal classroom for most of the day.  She is very social and loving and happy and funny.  We have been trying to get her more help in the education system and more testing to see what services she can get, so I started doing more research and all of a sudden I found this forum and other sites and studies regarding this syndrome, where 5 -6 years ago, the doctors at CHOP, childrens hospital of phila. didn't have any more info. other than they had found a mother and daughter with the same syndrome who were both healthy and fine and that we just had to wait and see with our daughter.  I would say for those here with infants toddlers or for those just learning about this,   rarechromo.org, has a good explanation about it, and you can print it and share with your doctors, therapists, early intervention directors, schools teachers, etc, because it will help them understand.  I would also recommend to get your child as much early intervention, private therapy, physical therapy, speech, etc, as you can if you are seeing delays with your child.  We feel we have done and are doing everything we can for her, and we are actually educating the school teachers, counselors and psychologists about her condition so they can help and guide us to give her everything that can help her.  Sorry for the long message, I just thought I would put this out there.  If anyone has any info. about older children or people with the similar condition and level where my daughter is, Id love to know anything that we might expect about future development, health,  social issues etc. Thanks for reading and sharing.
Blank
Avatar_f_tn
hi there, my son has 16q duplication looking on getting some more information on this, the members of your family woukd you mind sharing how this dupliation affects them,, im not sure where abouts on the chromosome is duplicated on my son i just know at the moment thats its 16q long arm, i am currently chasing up genetics for more info..


regards stacey
Blank
Avatar_m_tn
My child was just dx with a chromosome 16 duplication. We have been waiting several months to get into the geneticist for more specific answers as the neurologist that ordered the DNA testing doesn't know anything more about it. What info is out there? What questions should we be asking? Would love any help at all! Thank you!
Blank
Post a Comment
To
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
Genetics Community Resources
RSS Expert Activity
469720_tn?1388149949
Blank
Abdominal Aortic Aneurysm-treatable... Blank
Oct 04 by Lee Kirksey, MDBlank
242532_tn?1269553979
Blank
The 3 Essentials to Ending Emotiona...
Sep 18 by Roger Gould, M.D.Blank
242532_tn?1269553979
Blank
Control Emotional Eating with this ...
Sep 04 by Roger Gould, M.D.Blank