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Penta X syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: 49,XXXXX syndrome; Chromosome XXXXX syndrome; Penta-X syndrome; Pentasomy X syndrome
SNOMED CT: Penta X syndrome (43248007); XXXXX syndrome (43248007); Five X syndrome (43248007)


A rare sex chromosome abnormality in which a female child has 3 extra X chromosomes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPenta X syndrome
Follow this link to review classifications for Penta X syndrome in Orphanet.

Recent clinical studies


Kassai R, Hamada I, Furuta H, Cho K, Abe K, Deng HX, Niikawa N
Am J Med Genet 1991 Jul 1;40(1):51-6. doi: 10.1002/ajmg.1320400110. PMID: 1887850

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