Fluorescence in situ hybridization of psu dic(X)(Xpter-Xq21::Xq21-Xpter) in two patients with Turner's syndrome

Hum Hered. 1998 Mar-Apr;48(2):82-6. doi: 10.1159/000022785.

Abstract

Dicentric X chromosomes of different derivations were present in 6 out of a total of 42 patients with Turner's syndrome. The most unusual cases were observed in 2 patients having a psu dic(X)(Xpter-Xq21::Xq21-Xpter) in mosaic form who were examined by fluorescence in situ hybridization. Alu-PCR products from hybrid cell lines were used as partial chromosome paints for the p arm of the human X chromosomes. The other 4 patients displayed isodicentric idic(Xq) in mosaic form. One of the patients displayed 9 cell lines originating from the accumulation of isodicentric idic(Xq) chromosomes, along with loss of chromosome material which resulted in fragments of varying size.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Aberrations*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Turner Syndrome / genetics*
  • X Chromosome*