Trisomy 18 associated with ectopia cordis and occipital meningocele

Am J Med Genet. 1988 Jul;30(3):805-10. doi: 10.1002/ajmg.1320300313.

Abstract

A premature infant presented with ectopia cordis, occipital meningocele, and manifestations of trisomy 18; cytogenetic analysis confirmed a 47,XX,+18 chromosome constitution. While most cases of ectopia cordis appear as isolated, sporadic defects, careful evaluation is warranted to detect evidence of an associated chromosome abnormality.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, Pair 18*
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Meningocele / genetics*
  • Trisomy*