Gonadal dysgenesis in a neonate with 45,X/47,XXX karyotype

South Med J. 1980 Oct;73(10):1402-4. doi: 10.1097/00007611-198010000-00035.

Abstract

A case of X/XXX mosaicism in a neonate with dysgenetic gonads is presented because of the rarity of the X/XXX karyotype and the presence of dysgenetic ovaries and congenital heart anomalies. We suggest that the X/XXX mosaicism may not have a protective effect on the gonads as does X/XX mosaicism in some cases.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Mosaicism*
  • Ovary / ultrastructure
  • Turner Syndrome / genetics*