Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization

Am J Med Genet. 1994 Apr 15;50(3):251-4. doi: 10.1002/ajmg.1320500308.

Abstract

A 10-year-old girl with Ullrich-Turner syndrome was found to have the novel karyotype 45,X/46,X,r(X)(p11q11)/46,X,dic(X)(p11). Fluorescence in situ hybridization (FISH) with the alpha satellite X centromere probe established the origin of the small ring chromosome. Scanning a large number of cells by interphase FISH showed that the dicentric (X) was the least prevalent cell line. The common breakpoint of Xp11 suggests a sequence of errors as the mechanism whereby these 3 distinct cell lines have arisen.

Publication types

  • Case Reports

MeSH terms

  • Cells, Cultured
  • Centromere / ultrastructure*
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Lymphocytes / ultrastructure
  • Mosaicism*
  • Ring Chromosomes*
  • Turner Syndrome / genetics*
  • X Chromosome / ultrastructure*