1q21.1: Neurological Findings and Brain Imaging Studies

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  • Опубліковано 4 сер 2024
  • Dr. Elliott Sherr, UCSF, presents on Neurological Findings and Brain Imaging Studies in individuals with 1q21.1

КОМЕНТАРІ • 10

  • @Humblebee413
    @Humblebee413 6 місяців тому +2

    My son (adopted - age 15) was diagnosed with 1q21.1 Microdeletion at age 13 during a psychiatric hospitalization. The rarity makes navigating this diagnosis challenging.

    • @inverross9019
      @inverross9019 4 місяці тому

      I have 1q 21.1 microdeletion. It's far more common than the Wiki suggests.. as their information is so out of date. There are many people who are now known to have it.. but there is no coordinated approach to getting all the carriers from throughout the world into one research project. The studies are so weak, and based on samples of a few dozen people here and there. ,.. so extracting that to percentages is not very accurare.. It's all piecemeal. You might have this,, you might have that, you might not have anything! General Clinicians don't know what to make of it because of the variability.

  • @henriquemuniz8095
    @henriquemuniz8095 6 років тому +1

    Hi,
    I live in Brazil and my son is 3 years old and was diagnosed with 1q21.1 Microduplication Syndrome.
    Please could you help me? He speaks few words. Is it common? How can I help him?
    Thank you very much!
    Henrique Muniz

  • @myultimatesweat2203
    @myultimatesweat2203 2 роки тому

    My Daughters just been diagnosed with this, myself and partner are being tested soon, so we have other children. One who shows signs of the syndrome.

  • @pernilladomander7648
    @pernilladomander7648 16 днів тому +2

    Is this the one Gypsy Rose has?

    • @jimbobsconscience5159
      @jimbobsconscience5159 6 днів тому

      Yes

    • @melanysmith3023
      @melanysmith3023 6 днів тому +1

      This explains alot of what dee dee was saying in the beginning, I do believe she exploited grb illness but I'm sure she didn't know what would happen. And she did not deserve what she got

  • @zehradandindemircioglu7642
    @zehradandindemircioglu7642 2 роки тому

    Mu daughter just been diagnosed with this does is has any treatment