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  • Let's talk Chromsones

    Does anyone have a child with a bit of extra chromosome 2 & 13?
    Anyone know what they are? Effects? Etc?

  • #2
    Have you just had a child diagnosed with this condition?

    I don't have any experience, but want to suggest you contact http://www.rarechromo.org/html/home.asp. They provide a wealth of information about rare chromosomal disorders.

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    • #3
      Originally posted by SSecret Squirrel View Post
      Have you just had a child diagnosed with this condition?

      I don't have any experience, but want to suggest you contact http://www.rarechromo.org/html/home.asp. They provide a wealth of information about rare chromosomal disorders.
      That's overseas....if I read right

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      • #4
        How do you know if they do or don't?

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        • #5
          Originally posted by Nafsika View Post
          That's overseas....if I read right
          It is based in England, but they connect people all over the world.

          They have fact sheets on a number of conditions here:
          http://www.rarechromo.org/html/DisorderGuides.asp

          In addition, you can contact them to request information on specific disorders:
          http://www.rarechromo.org/html/RequestAPhenotype.asp

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          • #6
            Originally posted by lilypily View Post
            How do you know if they do or don't?
            Pardon?

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            • #7
              Let's talk Chromsones

              Just wanting to learn more, I have no idea about this. Is it diagnosed in utero, post birth? What is it, then a link was posted.

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              • #8
                I find out through blood test

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                • #9
                  is that trisomy 2 and trisomy 13? t13 is patau's syndrome and it's pretty rare. t2 I've never heard of but I just googled and it says it can cause forms of cancer??

                  neither sounds particularly appealing. Hope you/your kids are ok.

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                  • #10
                    If it's just a bit then it's a partial trisomy. The symptoms/outcomes etc will depend on what the extra bit is (which genes it contains).
                    Last edited by AdornedWithCats; 11-12-2015, 22:20.

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                    • #11
                      I hope you and your family are ok!? My DS got diagnosed with a rare genetic disorder Mecp2 duplication syndrome in May of this year after microarray genetic testing. Me and his father were also tested where I came up positive as a carrier also. If you would like some good websites or Facebook groups to visit for rare genetic disorders feel free to message me. I'm in a few general rare genetics groups myself. I hope you are going ok.

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                      • #12
                        Originally posted by turquoisecoast View Post
                        is that trisomy 2 and trisomy 13? t13 is patau's syndrome and it's pretty rare. t2 I've never heard of but I just googled and it says it can cause forms of cancer??

                        neither sounds particularly appealing. Hope you/your kids are ok.
                        It's genetic apparently and nothing can be confirmed until the parents are tested. I've googled the ones they found and seriously she has none of the written symptoms. Except the low birth weight and the fact that she's not eating much at all.

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                        • #13
                          Originally posted by AdornedWithCats View Post
                          If it's just a bit then it's a partial trisomy. The symptoms/outcomes etc will depend on what the extra bit is (which genes it contains).
                          It is just a bit extra they said. But we need to get tested.

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                          • #14
                            Originally posted by Nafsika View Post
                            It's genetic apparently and nothing can be confirmed until the parents are tested. I've googled the ones they found and seriously she has none of the written symptoms. Except the low birth weight and the fact that she's not eating much at all.
                            all the best with the testing and results. hope it's nothing serious.

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                            • #15
                              Originally posted by turquoisecoast View Post
                              all the best with the testing and results. hope it's nothing serious.
                              Thank you....I just need her to get to eat something....

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