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Trisomy 8q

Disease definition

Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.

ORPHA:1752

  • Synonym(s):
    • Duplication 8q
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q92.2
  • OMIM: -
  • UMLS: C0795829
  • MeSH: C538020
  • GARD: 5362
  • MedDRA: -

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