Denovo (Genetic But Not Inhereited) With Jenny From Texas
About this episode
In this episode, Joanna speaks with Jenny about her children's diagnoses of two different rare genetic conditions that are de novo mutations.
Send us Fan Mail What if two of your children were diagnosed with two completely different rare genetic conditions… on the same day? In this episode of Rare Connection, I speak with Jenny, a mother of four, whose children Avery and Paxton were both diagnosed through whole exome sequencing with two separate rare diseases — Phelan-McDermid Syndrome and Tatton Brown Rahman Syndrome. Both conditions are genetic, but not inherited. They are de novo mutations, meaning they occurred for the first ti...
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