A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome

Ann Hum Genet. 1990 Jul;54(3):209-23. doi: 10.1111/j.1469-1809.1990.tb00379.x.


The results of a cytogenetic and molecular reinvestigation of a series of 52 patients with Turner's syndrome are reported. No evidence of Y chromosome material was found among the patients with a 45,X constitution but two patients were found to have a cell line with a r(Y) chromosome which was previously thought to be a r(X). The parental origin of the single X in the 45,X patients was maternal in 69% and paternal in 31%, a similar ratio to that seen among spontaneously aborted 45,X conceptuses. This suggests that X-chromosome imprinting is not responsible for the two grossly different phenotypes associated with a 45,X chromosome constitution. Approximately half of the structurally abnormal X chromosomes were maternal in origin and half paternal. This observation is consistent with either a meiotic or post-zygotic mitotic origin and at variance with the predominantly paternal origin reported for autosome structural abnormalities.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aging
  • Blotting, Southern
  • Cell Line
  • Chromosome Aberrations*
  • Chromosome Banding
  • DNA / genetics
  • Humans
  • Karyotyping
  • Nucleic Acid Hybridization
  • Parents
  • Turner Syndrome / genetics*
  • Turner Syndrome / pathology
  • X Chromosome
  • Y Chromosome


  • DNA