Let's talk Chromsones | Page 2 | Bub Hub
+ Reply to Thread
Page 2 of 3 FirstFirst 123 LastLast
Results 11 to 20 of 26
  1. #11
    Join Date
    Apr 2008
    Posts
    928
    Thanks
    303
    Thanked
    206
    Reviews
    0
    Achievements:Topaz Star - 500 posts
    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.

  2. #12
    Join Date
    Oct 2011
    Location
    Adelaide
    Posts
    2,393
    Thanks
    350
    Thanked
    307
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    Quote 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.

  3. #13
    Join Date
    Oct 2011
    Location
    Adelaide
    Posts
    2,393
    Thanks
    350
    Thanked
    307
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    Quote 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.

  4. #14
    Join Date
    Jul 2015
    Posts
    6,685
    Thanks
    4,658
    Thanked
    4,089
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 postsAmethyst Star - 5,000 posts
    Awards:
    100 Posts in a week
    Quote 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.

  5. #15
    Join Date
    Oct 2011
    Location
    Adelaide
    Posts
    2,393
    Thanks
    350
    Thanked
    307
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    Quote 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....

  6. #16
    AdornedWithCats's Avatar
    AdornedWithCats is offline Winner 2013 - Spirit of BubHub Award
    Winner 2014 - Best Username

    Join Date
    May 2012
    Location
    Melbourne
    Posts
    7,688
    Thanks
    6,523
    Thanked
    3,324
    Reviews
    15
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 postsAmethyst Star - 5,000 posts
    Awards:
    Busiest Member of the WeekBusiest Member of the Week - week ended 12/6/15Funniest Caption400 Posts in a week300 posts in a week
    As far as I know when it's partial the severity can vary quite a lot. Good luck with the testing/results.

  7. The Following User Says Thank You to AdornedWithCats For This Useful Post:

    Nafsika  (12-12-2015)

  8. #17
    Join Date
    Jan 2008
    Location
    Adelaide
    Posts
    693
    Thanks
    6
    Thanked
    5
    Reviews
    0
    Achievements:Topaz Star - 500 posts
    How are you going OP? My DD (7) has a deletion on 22 and a duplication on 8. Have you been in touch with a geneticist or genetic counsellor? I can highly recommend the team at WCH. Anne Baxendale (Counsellor) in particular. There are no definitive answers with deletions and duplications generally as they can't even tell if the size of deletion/duplication impacts the severity of symptoms in most cases. How is your daughter developing? Meeting her milestones? What led you to testing? My daughter was severely delayed and we were looking at a diagnosis of autism when her FISH and Microarray tests came back. I am also a carrier (I have what's called a balanced translocation and my daughter has an unbalanced translocation).

  9. #18
    Join Date
    Oct 2011
    Location
    Adelaide
    Posts
    2,393
    Thanks
    350
    Thanked
    307
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    Quote Originally Posted by missmilliesmum View Post
    How are you going OP? My DD (7) has a deletion on 22 and a duplication on 8. Have you been in touch with a geneticist or genetic counsellor? I can highly recommend the team at WCH. Anne Baxendale (Counsellor) in particular. There are no definitive answers with deletions and duplications generally as they can't even tell if the size of deletion/duplication impacts the severity of symptoms in most cases. How is your daughter developing? Meeting her milestones? What led you to testing? My daughter was severely delayed and we were looking at a diagnosis of autism when her FISH and Microarray tests came back. I am also a carrier (I have what's called a balanced translocation and my daughter has an unbalanced translocation).
    Good morning, thank you for checking in. I actually received a letter yesterday and I'm waiting for a letter to go in. They said it will be within the next 4 months. My husband's and my results won't be back for another 9 weeks or so.

    My girl has a duplication (only a little bit) of 2 Chromosone. If I hadn't checked why she wasn't eating or not gaining I wouldn't of known.

    However she's eating and gaining now.

    Your welcome to send me a private message if you like.

  10. #19
    Join Date
    Oct 2011
    Location
    Adelaide
    Posts
    2,393
    Thanks
    350
    Thanked
    307
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    And yes, she's hitting her milestones. Sorry, didn't answer that before.

  11. #20
    Join Date
    Oct 2011
    Location
    Adelaide
    Posts
    2,393
    Thanks
    350
    Thanked
    307
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 posts
    Results are in......grrrrrrr


 

Similar Threads

  1. At what age do I talk about sex?
    By just her chameleon in forum General Parenting Tips, Advice & Chat
    Replies: 11
    Last Post: 13-10-2015, 08:53
  2. Alone and no one to talk to
    By soulmama in forum Feeling alone
    Replies: 19
    Last Post: 13-04-2015, 14:09
  3. I need to talk
    By Noelle in forum Introductions
    Replies: 1
    Last Post: 23-03-2015, 18:21

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
Free weekly newsletters | Sign up now!
who are these people who write great posts? meet our hubbub authors!
Learn how you can contribute to the hubbub!

reviews
learn how you can become a reviewer!

competitions

forum - chatting now
sales & new stuffsee all
Little Rugby
Little Rugby has non-contact classes for children aged from 2 yrs through to 7th birthday. The sessions are FUN, interactive and develop the skills for future sporting success!
Contact us for more details!
featured supporter
The Health Hub & Glowing Expectations
Glowing Expectations is conveniently located at The Health Hub in Darlinghurst. We offer pre & post natal personal training, small group pregnancy exercise classes, flexible mums & bubs sessions, massage, & naturopathy in our air-conditioned studio.
gotcha
X

Expecting your first baby?

Not sure what to do?

We can help!

Our Insider Programs for pregnancy first-timers will lead you step-by-step through the
14 Pregnancy Must Dos!