5 Key Takeaways

• 1

  A 3-year-old boy with autism was diagnosed with a de novo 13.4-Mb triplication of chromosome region 3p24.3p23.

• 2

  The child exhibited global developmental delay, autism spectrum disorder symptoms, and various physical anomalies.

• 3

  Genetic evaluation confirmed the triplication included 30 RefSeq genes and was associated with a syndromic form of autism.

• 4

  The researchers hypothesized that dysregulation of the SATB1 gene within the triplicated region could explain the child's phenotype.

• 5

  This case represents the first clinical description of developmental delay and autistic symptoms linked to a 3p24.3p23 triplication.