Familial occurrence of isodicentric X chromosomes with different breakpoints

Clin Genet. 1988 Sep;34(3):153-60. doi: 10.1111/j.1399-0004.1988.tb02855.x.

Abstract

We report two cases of an idic (X) chromosome found in relatives with Turner's syndrome. A 21-year-old female revealed a non-mosaic form of X isochromosome of the long arms with two C-band regions, i.e. dic(X)(qter----cen----p11::p11----cen----qter). Her 46-year-old aunt with Turner's syndrome had an X chromosome with long arm breakpoints at site q21 and chromosomal mosaicism, i.e. 45,X/46,X, dic(X)(pter----q21::q21----pter)(78/22). The relative rarity of reports about familial Turner's syndrome with structural abnormality may suggest a coincidence. However, it is difficult to exclude familial predisposition to X isochromosome formation in this family.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Humans
  • Karyotyping
  • Middle Aged
  • Pedigree
  • Sex Chromosome Aberrations / genetics*
  • Turner Syndrome / genetics
  • X Chromosome*