Deletion of Chromosone 16

[NeyNey]

Anyone had a child with this Genetic Fault?

If so can you shed some light, what age did your child reach milestones - what therapy did you get for it, what helped, what didn't?

Thank you in advance.

 

[Peanut78]

Hi Ney Ney,

I don't have any experience with genetic disorders per se, but if your son is experiencing delays in reaching milestones due to a condition you may want to consider what supportive therapies could help him and are available to you sooner rather than later. Could your paed point you in the right direction?

Our son was experiencing developmental delays due to a problem he has which affects his motor planning. He is now in occupational therapy, speech therapy and some physio. Early intervention especially before 5 years can have a unique impact (so we have been told again and again),, in mitigating the potential longer-term affects of developmetal delays. Our son's issues are neurological, but I think the advice larlegy remains the same regardless...

We only just started speech therapy, so I can't say much about that. But OT has had a real impact on him in the few months we have been doing it. He also finds the sessions fun and engaging.

Sorry I can't be of more help

 

[NeyNey]

Thank you hun

He is in physio already, had been for months due to his low Tone. We will be offered support for other areas this coming month I believe, thats what they've told us. So speech therapy might be in those.

They said his fault is classed as "Neuro Muscular" so not sure what that means....

 

[BrandiCanucks]

Neuromuscular disorders are basically a dysfunction in the nerves and muscles. Did the doctors say what karyotype he has? A karyotype is the part of the chromosome that is deleted. For example, a condition called Phelan-McDermid Syndrome is a deletion of 22q13, which is a part of the 22nd chromosome. The karyotype, for example, might look like 22q13.3. This tells you what part of the chromosome and which end.

My daughter has a chromosome translocation of all of the short arm of chromosome 15. If you picture a wishbone, for example, one arm of the bone is longer than the other. The longer arm is referred to as q while the short arm is referred to as p. In my daughter's case, the short arm, p, completely broke off and reattached itself to either chromosome 13 or 21. So, if you picture for a minute, my daughter has one chromosome with only one arm, and one chromosome with 3 arms.

Have you looked up what conditions come with a deletion of chromosome 16 at all?

Sorry I can't be of much more help, but I'll offer any support if I can!

 

[Daffodil11]

Hello - not sure if you have an answer to this. You can check out Unique which has a lot of info about rare genetic conditions. Only just joined so won't let me give you link but you can pick up from Google.
Remember that all children are individuals and what it describes for Chr 16 may not be apply. Your baby = beautiful. We have a 3 & 1/2 y o with severe learning difficulties and rare genetic condition. She's our star!

 

[NeyNey]

Thank you all..

I have actually applied to become a Member of Unique, just waiting to hear from there.

His deletion is 16p 13.11 (1.4mb).

I just found out I carry the same fault! I am the one who passed it onto him.

 

[BrandiCanucks]

It is heartbreaking when you find out that you are the one who passed it on. I am a Developmental Service Worker and work with kids with special needs, as well as have my own daughter with special needs. I'll never forget the day one of her geneticists called and told us that my husband is the one who passed on the translocated chromosome. I knew I would have to do damage control the second he said to me "So I'm the one who caused all her problems?"

He felt so guilty. But the important thing to remember is that our kids are amazing. A deletion or translocation or duplication does not make them broken or damaged, it makes them special and unique. They can still learn and be taught, and best of all, teach us. They love and can be loved. They are our babies, our angels, our friends.

 

[cchorton711]

Our 5 year old has this same deletion. She has been diagnosed with dystonia, a movement disorder and we are currently trying to find the connection of the genetic deletion to dystonia. It affects her fine motor skills the most which makes tasks like cutting, feeding herself with a spoon and talking very difficult for her. She is a very smart, friendly, active 5 year old!

She has been in ot, pt, and speech since she was 9 months old. Please feel free to contact us if you have any questions about her development.

 

[JASMAK]

Makena has ASD, as you know, but she also was diagnosed almost a year ago, with Apraxia, which is basically low muscle tone as well. She has issues holding pencils in school, and will be entitled to a laptop computer, although we have been working very hard with her using playdough etc...squeezing it to try and strengthen her hands. She can't do buttons, zippers, belts, etc...which, being almost 7, but the size of a 9 year old (wears size 10 clothes) is VERY difficult to find pants without buttons, zippers or snaps!!! I know this is ahead of your little guy...funnily enough, Makena crawled early (but not a typical crawl...she butt-scooted) and walked at 10mths, and her apraxia mainly has to do with her hands and muscle tone (can't use a fork either...although we make her use one! lol) and balance...so things like riding a bike etc, is difficult. Keep plugging away. I tell Makena she needs to work 10 times harder than anyone else, but I also give her LOTS to do with dance, and swimming so she gets regular practice but having fun. Of course, her autism is the hardest thing she has to deal with, and apparently those with autism often has apraxia as well. One thing I do not do, is baby her!!! I realize that things are hard for her, not just physically, but her understanding and social cues...but, she has to work harder...it's not her fault, for sure, but she has to try. Speech and occupational therapy have done wonders for her...at the beginning a 'diagnosis' can be scary...still scares me really....but information and support is key, and that will come with time. x x

 

[LoveleeB]

Jasmak, it's interesting you say your daughter is the size of a 9 year old as I just read an article which found that there seems to be a correlation between autism and children be taller or larger than average. My son is also very big for his age, even though he was 9 weeks premature.

 

[JASMAK]

Jasmak, it's interesting you say your daughter is the size of a 9 year old as I just read an article which found that there seems to be a correlation between autism and children be taller or larger than average. My son is also very big for his age, even though he was 9 weeks premature.

I have heard that too! She is pretty skinny...we have issues buying pants that stay up!! lol But she is very tall. However, that being said...her daddy is 6'4" and I am pretty tall too at 5'8". lol

 

[LoveleeB]

Jasmak, it's interesting you say your daughter is the size of a 9 year old as I just read an article which found that there seems to be a correlation between autism and children be taller or larger than average. My son is also very big for his age, even though he was 9 weeks premature.

I have heard that too! She is pretty skinny...we have issues buying pants that stay up!! lol But she is very tall. However, that being said...her daddy is 6'4" and I am pretty tall too at 5'8". lol

Thats where I get confused too, my son is really tall but I'm 5'10" and my DH is over 6 foot. My daughter is 97th percentile for height at 4 months but I would have been surprised if she were short!

 

[JASMAK]

yeah, same situation...but i have heard of that...and something about head circumfrence too...and Makena does have a bigger head than the other two. She was my smallest baby tho.

 

[ellemonkey]

My daughter has a suspected abnormality with chromosome 17 (17p) its called Smith-Magenis syndrome. How ever I have found it very hard to get my GP or HV to send her blood away for analysis.

She fits it to a T. but looks like she has downs slightly rather than the normal facial features of SMS. My GP was astounded when I mentioned Mosiac Downs too, he had never heard of it before.

We are in the process of moving to a new GP and HV.

 

[Lottie86]

How on earth has your gp never heard of mosaic Down Syndrome but yet has heard of something much rarer?! Bizarre!!
Why on earth won't they send bloods off if they suspect it as that is the only way to know for definate if your daughter has the problem or not.

 

[NeyNey]

Thank you for all the replies.

Right now DS is going ok. He still isn't walking, but has started to take small steps just yesterday. He has a few struggles but we're getting through them.

One thing my Genetists keeps following up on are Autism symptoms, I'm not sure if he's just being over cautious or if I've said something to perhaps give him concerns. I've googled symptoms in infants and am keeping a close eye on him. It depends on what site you see, sometimes he does show some symptoms, sometimes he doesn't....It's a never ending worry that he will develop Autism...Although I'm sure no matter what happens, we'll cope together.

 

[mummaof3]

hi i have just has the results saying my son has a deletion on chromosome 16 my son is 2 yrs and 2 months has globle developmental delay and low muscle tone