Sean has a triplication in his first chromosome and, as far as we have been able to find, is the only one in the world with a triplication in his specific region. Sean has an atrial septal defect, small head size, deformed ear drums and space behind the ear drums, chronic ear and sinus infections, and is globally developmentally delayed. We do not fully know the extent the chromosome abnormality will affect him as he gets older.

Sean is a loving caring 4 year old child who, so far, does not realize he is any different than any of his peers at school. In January, Sean went on a Make-A-Wish trip to Disneyworld and had the time of his life visiting Mickey Mouse and staying at Give Kids the World.

If you wish to follow Sean’s story, our family has set up a Facebook page.

3 thoughts on “4 Year Old Boy Has Ultra Rare Triplication Defect on Chromosome 1”

  1. Kathleen Harris says:

    Sean is indeed a very loving, wonderful young man! He is surrounded by a loving, wonderful family too! I had the privilege of sharing as part of the family (next door neighbors) for Sean’s first 3 years and sure miss having him come over to play! Tell him “Auntie Coffee” says hi! (I was “Coffee” rather than “Kathy” as he was learning to speak!) Love to all of Sean’s family! Miss you more than you know!!

  2. Erin Steele says:

    Our son is adopted from China and recently received genetic testing. I was just notified he has a triplication of his first chromosome. Because of unknown family history, there is really nothing else we can find out about this. He does have a repaired cleft lip and palate with some mild learning disabilities. It’s difficult to find much information regarding this and I came upon this site.

  3. Roni Kurtanick says:

    My son also has a 1p36 triplication also a duplication and a larger deletion . His triplication is at 1p36.23

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