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 journalArticle

14 Scopus citations

Abstract

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
Volume36
Issue number1
DOIs
StatePublished - Jan 1 1990
Externally publishedYes

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

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