Mosaic 45,x/47,xy,+18

Hum Genet. 1977 May 10;36(3):351-3. doi: 10.1007/BF00446288.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Female
  • Humans
  • Hydrophthalmos / diagnosis
  • Infant
  • Intellectual Disability / diagnosis
  • Karyotyping
  • Mosaicism*
  • Phenotype
  • Sex Chromosome Aberrations / diagnosis*
  • Turner Syndrome / diagnosis