Syringomyelia and Balanced Translocations

Have a child with SM/Chiari? Share issues unique to children and their caregivers.

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Syringomyelia and Balanced Translocations

Postby DanielleC » Fri Feb 12, 2010 4:11 pm

Hello again,
I just want to say thanks to everyone on this site-- all of the responses and feedback have been very helpful.

Before my son was diagnosed with Syringomyelia (2 weeks ago) we had seen a geneticist. His blood work came back normal for the most part BUT he has a Balanced Translocation (6:14). My husband and I were tested to see if we had this as well. We found out the other day that we do not have it.

This means that the balanced translocation started in my son. The geneticst said that if my son was born with the syringomyelia -- the balanced translocation could possibly be the cause. But they can't know for sure. Even if it is -- it would not change anything at this point.

I just wanted to know if anyone else with who has idiopathic syringomyelia has a balanced translocation also.

thanks
Danielle
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Re: Syringomyelia and Balanced Translocations

Postby razzle » Fri Feb 12, 2010 5:05 pm

for some of us me included can you tell us what that is? THANKS
Once you choose hope, anything's possible.

Roz( Razzle51 or Rosalyn
Iowa
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Re: Syringomyelia and Balanced Translocations

Postby DanielleC » Sun Feb 14, 2010 4:16 pm

I am still trying to understand it myself. I guess it is pretty common-- but you really do not know you have it (there are usually no obvious symptoms)

People usually find out they have this once they have genetic testing b/c of frequent miscarriages. (male and female)

He has 23 chromosomes from me and 23 from my husband-- total of 46 chromosomes. nothing is missing or extra. BUT what happened was a pieces of 6 and a piece of 14 switched places. All of the genetic material is there to develop correctly.


***BUT if the break occurred in the middle of a gene that is important in growth or development and the gene no longer provides correct instructions because it is disrupted***
The Doctor told us if the switch took place on the gene that is responsible for the spinal cord it could have disrupted the development of it. But it is very hard to know for sure. This whole world of genetics is hard to understand b/c there are really no concrete answers.
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