Tuesday, February 5, 2013

Wrong info

   So this is part of why I was so hesitant to disclose Joey's genetic disorder to friends and family until we had more information. Today we met with the developmental pediatrician and discovered that Ashley heard wrong. She thought the PT said Trisomy 17, when in actuality she had said Trisomy 16p. To be more specific we found out that he has a partial duplication of the  P arm in the 11.2 region. The good news is that it's a very small duplication, ~280kb, and the complications tend to be less severe than with 17.

1 comment:

  1. My daughter has this syndrome as well, she is 7. She's doing great with all her therapies. If you're interested, feel free to email me.

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