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Trisomy 5p

Disease definition

Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.

ORPHA:1742

Classification level: Disorder
  • Synonym(s):
    • Duplication 5p
    • Duplication of the short arm of chromosome 5
    • Trisomy of the short arm of chromosome 5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q92.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 6093
  • MedDRA: -

Detailed information

Article for general public

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