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What is XQ Duplication Syndrome?

Published in Genetic Disorders 1 min read

XQ duplication syndrome, specifically the int22h1/int22h2-mediated Xq28 duplication syndrome, is an X-linked intellectual disability syndrome. According to available information, it is characterized by a range of features that vary in severity, most notably:

  • Cognitive impairment, which is typically more pronounced in males.
  • A wide range of neurobehavioral abnormalities.
  • Variable facial dysmorphic features.