Orphanet: Pentasomia X

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Pentasomy X

Disease definition

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).


Classification level: Disorder
  • Synonym(s):
    • 49,XXXXX syndrome
    • Penta-X
    • Poly-X
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q97.1
  • OMIM: -
  • UMLS: C0265497  C2937419
  • MeSH: C535319
  • GARD: 5678
  • MedDRA: -
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