Anyone have any experience with chromosome 12p13.1 duplication?

Kathy - posted on 01/27/2014 ( 5 moms have responded )

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Hi everyone - new here. Just found out our daughter has a duplication of the short arm of chromosome 12 (12p13.1). She has displayed some global developmental delays to date (she's just under 2 years old) but we are struggling to get any medical person to give us an idea on what the future holds. We are understandably worried about the potential implications and are a bit lost to be honest. Any message from anyone who has gone through or is going through something similar would be much appreciated.

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Chet - posted on 01/27/2014

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Try posting to the old thread you found here. The other moms who were on that thread should get email that it's been updated... even if it's been awhile.

Chet - posted on 01/27/2014

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I don't have any real experience with this particular condition, but in general, genetic disorders like these tend to be variable in terms of how they manifest. Some children will have more severe symptoms than others.

It can be very difficult to get exact answers about what the future will hold partly because of the variability, and partly because the conditions are so rare. Nobody has experience with a huge large pool of patients to make generalizations from when cases happen infrequently.

I think you're fairly unlikely to find other families dealing with this on this board. Have you gotten in touch with an organization yet that works specifically with children and families dealing with rare genetic conditions, or genetic conditions specific to chromosome 12?

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Deborah - posted on 12/17/2014

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Hi my little girl has trisomy 12p also I am on Facebook ( out trisomy12p family) add us x

Karen - posted on 07/14/2014

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My daughter has just found to have the duplication plus another one xp22.33 she is 5 and struggling a bit in school she has some other problems as well but its hard finding info out there

Kathy - posted on 01/27/2014

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Thanks for your response Chet MC - I did find an organisation called unique who deal with rare chromosomal disorders. I was just hoping there was a slim chance someone else had encountered this here as I saw a thread with a number of mums who had experienced with chromosome 12q additions.

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