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Neurodevelopmental and Behavioral Phenotypes in 14q11.2 Microduplication Syndrome: A Case Report and Literature

Joshua M Williams1, Simon L Esbit1, Mai-Lan Ho2

  • 1Medical School for International Health, Ben Gurion University of the Negev, Be'er Sheva, ISR.

Cureus
|September 23, 2025
PubMed

Insights

14q11.2 microduplication syndrome is an ultrarare neurodevelopmental disorder involving the SUPT16H and CHD8 genes. This case highlights a complex presentation in a young male, emphasizing the need for genetic testing in such conditions.

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Genomic Medicine

Background:

  • 14q11.2 microduplication syndrome is an ultrarare genetic disorder.
  • It is characterized by duplications in the 14q11.2 chromosomal region, affecting genes such as SUPT16H and CHD8.
  • This condition leads to complex neurodevelopmental challenges.
Keywords:
14q11.2 microduplication syndromeaggressive behaviorattention deficit hyperactivity disorder (adhd)autism spectrum disorder (asd)chd8supt16h

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