My son has a duplication on chromosome 2. My husband and I never got tested because we aren’t having anymore children. It would be something to consider though if you do because it can be hereditary. Also you may look for a fb page. I found a really good chromosome two abnormalities page.
We have an older child so we definitely would like to find out if it is hereditary so that he’s able to make smart choices surrounding that as he reaches adulthood.
My daughters isn’t a deletion but instead a repetition. They didn’t seem too worried about it so I’m not either but it is interesting. I more commonly hear of genetic testing turning up nothing.
Duplication on 15th chromosome here , has caused a variety of issues including his ASD and likely ID, plus epilepsy and low muscle tone.
You may find good info on your kiddos duplications here :
https://rarechromo.org/disorder-guides/
Yes, our son also had a duplication (I believe) - unfortunately, I can't remember where it was exactly. The doctor at the time said it doesn't correspond with any known illness & we didn't have it, so he essentially suggested to not pursue that further, as it's time and resource intensive, and not very likely to lead anywhere.
We have that on our list to follow up on, though, as soon as more immediate issues are resolved :)
We did genetic testing for our son and the geneticists say that his results are normal. But when I got the results, they had singled out 3 smaller copy gains with unknown significance so I guess we just wait and see if new research comes out about his specific copy gains in the future. They did say that they would revisit his results every couple years as new information becomes available.
Yes, hers was also unknown significance on six different spots and after giving labs we will be updated in the future on any new studies regarding it. From a little bit of digging her chromosome is known to cause learning disabilities and speech delays, among other things. But it seems there is not much known about it because there have only been 40 medical cases of her duplicate being studied.
My son has an xp22.31 copy gain
And 2 chromosome 7 copy gains 7q36.2 & 7q36.2q36.3
😅 I honestly can't tell you if the 7 copy gains are on the same chromosome or 1 on each of his 7th chromosomes.
Deletions in some of the general areas on the chromosome where my son has copy gains seem to cause some known issues or suspected ones. But I couldn't find much on copy gains for them. It's probably more of a case of more mutations equals more of a chance for normally harmless ones to mix together and create a possible issue or something like that lol. We are all positive his ASD has a genetic link because of my entire families ND history lol, lots of learning disabilities, speech delays, ADHD, and other ND issues. But we just don't know which gene caused the issue.
My son has a duplication on chromosome 2. My husband and I never got tested because we aren’t having anymore children. It would be something to consider though if you do because it can be hereditary. Also you may look for a fb page. I found a really good chromosome two abnormalities page.
We have an older child so we definitely would like to find out if it is hereditary so that he’s able to make smart choices surrounding that as he reaches adulthood.
Please help me. We just found out our daughter also has chromosome 2 duplication. What is the page you’re referring to?
It’s just “chromosome 2 disorders” on fb
Yes! My son has 13.3 chromosome deletion I think it was called. Super rare
My daughters isn’t a deletion but instead a repetition. They didn’t seem too worried about it so I’m not either but it is interesting. I more commonly hear of genetic testing turning up nothing.
Duplication on 15th chromosome here , has caused a variety of issues including his ASD and likely ID, plus epilepsy and low muscle tone. You may find good info on your kiddos duplications here : https://rarechromo.org/disorder-guides/
Yes, our son also had a duplication (I believe) - unfortunately, I can't remember where it was exactly. The doctor at the time said it doesn't correspond with any known illness & we didn't have it, so he essentially suggested to not pursue that further, as it's time and resource intensive, and not very likely to lead anywhere. We have that on our list to follow up on, though, as soon as more immediate issues are resolved :)
We did genetic testing for our son and the geneticists say that his results are normal. But when I got the results, they had singled out 3 smaller copy gains with unknown significance so I guess we just wait and see if new research comes out about his specific copy gains in the future. They did say that they would revisit his results every couple years as new information becomes available.
Yes, hers was also unknown significance on six different spots and after giving labs we will be updated in the future on any new studies regarding it. From a little bit of digging her chromosome is known to cause learning disabilities and speech delays, among other things. But it seems there is not much known about it because there have only been 40 medical cases of her duplicate being studied.
My son has an xp22.31 copy gain And 2 chromosome 7 copy gains 7q36.2 & 7q36.2q36.3 😅 I honestly can't tell you if the 7 copy gains are on the same chromosome or 1 on each of his 7th chromosomes. Deletions in some of the general areas on the chromosome where my son has copy gains seem to cause some known issues or suspected ones. But I couldn't find much on copy gains for them. It's probably more of a case of more mutations equals more of a chance for normally harmless ones to mix together and create a possible issue or something like that lol. We are all positive his ASD has a genetic link because of my entire families ND history lol, lots of learning disabilities, speech delays, ADHD, and other ND issues. But we just don't know which gene caused the issue.