Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromosome

Clin Genet. 1979 Mar;15(3):259-66. doi: 10.1111/j.1399-0004.1979.tb00977.x.

Abstract

A 31-year-old woman of short stature with severe oligomenorrhea was found to carry a duplication-deficiency X chromosome, 46,X,rec(X)dup q,inv(X)(p22q11), inherited from her mother who carried a pericentric inversion X chromosome, 46,X,inv(X)(p22q11). By a combination of autoradiography and BUdR incorporation, the duplication-deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosome Inversion*
  • Female
  • Humans
  • Pedigree
  • Sex Chromosomes*
  • Turner Syndrome / genetics*
  • X Chromosome*