FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients

Anne Wiktor, Daniel L. Van Dyke

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Purpose: To search for X or Y chromosome mosaicism in 45,X individuals using fluorescent in situ hybridization (FISH). Methods: From our series of 53 Ullrich-Turner syndrome patients, we used interphase FISH to evaluate the 19 who had an apparently nonmosaic 45,X karyotype with G-banding. Results: Of those 19 patients, mosaicism was detected in seven (37%), five patients had an XX line, one had a monocentric isochromosome X, and one had a dicentric isochromosome X. No Y chromosome mosaic was identified. Conclusion: FISH analysis is a sensitive and cost-effective adjunct to karyotype analysis to identify sex chromosome mosaicism in UTS.

Original languageEnglish (US)
Pages (from-to)132-135
Number of pages4
JournalGenetics in Medicine
Issue number3
StatePublished - May 2004


  • Chromosomal mosaicism
  • Gonadoblastoma
  • Turner syndrome
  • X chromosome monosomy

ASJC Scopus subject areas

  • Genetics(clinical)


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