Genetic Testing results - 5p duplication?

[janda]

We just received our son's genetic testing results and while the cranio syndrome panel was negative, something did come up on his microarray test results. He has a 5p duplication. Has anyone else had results mentioning 5p?

[craniomommynbaby]

I had not personally heard of it before, but I did a Google search for it and found a few sites. From what I read, it is rare and can have craniofacial abnormalities associated with it. It appears that there is a forum out there, but I didn't see more than one member.

http://www.rareshare.org/communities...ation-syndrome

[janda]

Thanks...I wonder how many cranio kids have some genetic cause (even if it's not a known syndrome). I'm guessing the numbers are high.

[Janet]

When Fi went for the testing, the dr told me that she doesn't think she has a syndrome but she is going to test to see if she has any abnormal chromosomes...not sure what, if anything that will tell us.
I guess they can't test for everything, but I'm still positive that my kids have a syndrome, there are just too many little things going on with them.

[janda]

Our son doesn't have any typical signs of a syndrome either according to both his NS and the geneticist so we didn't pursue genetic testing initially. It wasn't until this Spring that his head shape has reverted a little and some developmental issues started appearing that we decided to go ahead with the testing. I need to learn more about the science, but with our son they didn't bother with a karyotype since they didn't think there was an issue with the # of chromosomes. The DNA microarray was what detected the abnormality.

[Janet]

Our son doesn't have any typical signs of a syndrome either according to both his NS and the geneticist so we didn't pursue genetic testing initially. It wasn't until this Spring that his head shape has reverted a little .

That's what makes me think something is going on with Fi. They told me that it's less then 5% of children that don't heal, Fiona had some bone reabsorption as well, her scar took forever to heal....she was done in Sept, we were still seeing the surgeon about it in January. I noticed her head changing at around 9 months post op.
They told me that there are so many syndromes related to cranio, so we may never know.

[RachyFinn]

We just received our son's genetic testing results and while the cranio syndrome panel was negative, something did come up on his microarray test results. He has a 5p duplication. Has anyone else had results mentioning 5p?

Hi Janda
I gave birth to a daughter in April this year and she has chromosome 5p duplication. She has a few problems, some picked up antenatally and some after birth. Our geneticist will not tell us much about other known cases so I've been left to do my own research. I would be interested in chatting to you more about this.
Rach