Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature

Fetal Diagn Ther. 2010;27(2):113-7. doi: 10.1159/000284929. Epub 2010 Feb 16.


Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Amniocentesis
  • Aneuploidy
  • Chromosomes, Human, X / genetics*
  • Encephalocele / diagnosis
  • Encephalocele / genetics*
  • Encephalocele / surgery
  • Female
  • Gestational Age
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Infant, Premature, Diseases / surgery
  • Intestinal Atresia / diagnosis
  • Intestinal Atresia / genetics*
  • Intestinal Atresia / surgery
  • Karyotyping
  • Pregnancy
  • Sex Chromosome Aberrations / embryology*
  • Ultrasonography, Prenatal