Mosaic 45,X/47,XY,+18

  title={Mosaic 45,X/47,XY,+18},
  author={Françoise Serville and Daniel Fontan and Colette Laurent and J. M. Cazauran and Pierre Verger},
  journal={Human Genetics},
A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.