Penta X syndrome: A case report with review of the literature

R. Kassai*, I. Hamada, H. Furuta, K. Cho, K. Abe, H. X. Deng, N. Niikawa

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


We describe a 6 month-old girl with a 49, XXXXX chromosome constitution. The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly of the fifth fingers, overlapping toes, and separation between the first and the second toes. She also had atrial septal defect and patent ductus arteriosus complicated by myocarditis which exacerbated the course of her congestive heart failure. Psychomotor development was retarded with opisthotonoid posture, axial hypotonia, and with a borderline abnormal EEG. A densitometric, transmission analysis on X-linked polymorphic DNA-fragments of the Southern blots of the patient and the parents, using P20/MspI and pERT87-1/XmnI as probe/enzyme combinations, showed that the pentasomy X had resulted from 3 successive nondisjunctions at maternal meiosis. Clinical manifestations among 22 previously reported penta X syndrome patients are also reviewed.

Original languageEnglish (US)
Pages (from-to)51-56
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - 1991


  • congenital heart disease
  • multiple congenital anomalies and mental retardation (MCA/MR)
  • myocarditis
  • parental origin of pentasomy X

ASJC Scopus subject areas

  • Genetics(clinical)


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