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Updated: Aug 22, 2026
Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients
Anne Wiktor1, Daniel L Van Dyke
1Henry Ford Hospital, 2799 West Grand Boulevard, Detroit, MI 48202, USA.
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.
