1q21.1: What We've Learned about Medical Genetics

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  • Опубліковано 25 сер 2015
  • Given by Wendy Chung, MD, PhD at the 2015 Simons VIP Family Meeting

КОМЕНТАРІ • 10

  • @dantex9083
    @dantex9083 2 роки тому +1

    We are pregnant with a 1q21.1q21.2 microdeletion. We're going through genetic screening test tomorrow of us both, as we are told that the likelihood of severity if it's from a non-hereditary (Environmental) is much higher.
    If anyone has any good resources, would be very appreciative if you shared.
    It just came in that it was not due to heredity. Now we are uncertain as to what to do.

  • @kevintwaite2840
    @kevintwaite2840 5 років тому +1

    We found the 1 q 21.1 - 21.2 micro duplication in our case has autism that co-exists with Global Delay. But our son is just a joy with a great sense of humor he gives out to every one. Thanks Wendy once again.

  • @zeynepaslantahtal4771
    @zeynepaslantahtal4771 2 роки тому +1

    Thank you very much for the informations 🙏 I am pregnant to a child who has 1q21.1 microdeletion and unfortunately there is so limited information. Thanks again

    • @dantex9083
      @dantex9083 2 роки тому

      We are in a similar boat. 1q21.1q21.2 microdeletion due to environmental factors not heredity, apparently. We are 20 weeks in and the hospital has no definitive answers as these sort of cases are very rare.

  • @MsJessica996
    @MsJessica996 Рік тому

    My daughter was rushed in the hospital at 2 months old because of an episode of SIDS I caught in time, it made my daughter have brain damage all parts of her brain due to that and having seizures in the hospital. She spent only two and a half weeks in the hospital and then she was able to come home but from the beginning we were told it that she wasn't going to lives which I was so very upset about that I even said that if my daughter passes away I'm going with her but she is now a strong going on a 3 year old baby girl she does have extremely developmental delays and vision problems but she is my world and you can see how she is on my channel she is the strongest baby I ever know and then I have a son that doesn't have this genetic disorder but my daughter does we were told that because they had did a genetic testing for her and we were also told that it was a genetic from the dad not from me

  • @cigdemgurler2736
    @cigdemgurler2736 Місяць тому

    Benim kızım 6 yaşına girecek 1q21.2 delesyon var ne yapacağımı bilmiyorum ciddi anlamda konuşma gecikmesi öğrenme güçlüğü davranış bozuklukları var bu hastalığın çözümü varmi

  • @annikegibson5506
    @annikegibson5506 4 роки тому

    I have this and my daughter has this also my twin sister has this aswell I also I have bipolar disorder

    • @michaelstephanakis1657
      @michaelstephanakis1657 2 роки тому

      Hi. Im researching as myself and my daughter have it. I feel like i behavioural problems as well as mental problems.. im 40 years old and i cant make sense of anything atm

    • @annikegibson5506
      @annikegibson5506 2 роки тому +1

      @@michaelstephanakis1657 it's very interesting how the disorder develops in people I have a son that does not have it but he has autism and I have another with a low grade brain tumour.
      With any disorder it's very much a big and and low end with a spectrum.
      It's OK if your trying to make sense it will take some time and your emotions are valid