Multiple congenital anomalies associated with a 47,XXX chromosome constitution

O. J. Hood, E. A. Hartwell, K. E. Shattuck, H. S. Rosenberg

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


An infant with a 47,XXX chromosome constitution, who died shortly after birth, had laryngeal atresia, pulmonary hypoplasia, craniofacial anomalies, urogenital malformations including unilateral renal agenesis, hydrometrocolpos and ovarian dysgenesis, and mildly abnormal endochondrial ossification. Implications for genetic counseling are presented.

Original languageEnglish (US)
Pages (from-to)73-75
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - 1990


  • laryngeal atresia
  • ovarian dysgenesis
  • pulmonary hypoplasia
  • triplo-X

ASJC Scopus subject areas

  • Genetics(clinical)


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