Full 69,XXY triploidy and sex-reversal: a further example of true hermaphrodism associated with multiple malformations

Clin Genet. 1992 Apr;41(4):175-7. doi: 10.1111/j.1399-0004.1992.tb03658.x.

Abstract

A 20-week gestational age fetus with full triploidy and multiple malformations is presented. In all examined lymphocytes, fibroblasts and chorionic villi, a 69,XXY karyotype was found. Autopsy examination revealed bilateral ovotestes but, no evidence of Müllerian derivatives.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Disorders of Sex Development* / genetics*
  • Disorders of Sex Development* / pathology
  • Humans
  • Infant, Newborn
  • Polyploidy*
  • Sex Chromosome Aberrations / pathology*