Conditions / Genetic

chromosome 1q21.1 duplication syndrome

info · Genetic · ICD-10: Q92.3

A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region.

Signs and symptoms

  • Hypoplasia of the corpus callosum
  • Schizophrenia
  • Autism
  • Hypertelorism
  • Specific learning disability
  • Frontal bossing
  • Macrocephaly
  • Mild intellectual disability
  • Seizure
  • Abnormality of body height

Also known as: 1q21.1 microduplication syndrome; trisomy 1q21.1