Detection of low grade mosaicism in turner syndrome using fluorescence in-situ hybridization

Abstract

Detection of low grade mosaicism in Turner syndrome using fluorescence in-situ hybridization Fluorescence in-situ hybridization revealed a low percentage of abnormal X cells in karyotypically normal patients with Turner stigmata, significantly higher than the controls (p=0.003, Mann Whitney U test) .A baseline cut-off value of 0.897% was obtained using the ROC curve for classifying low grade mosaicism. Vice versa, 12% of karyotypically proven Turner patients showed a low percent of normal 46,XX cells only with FISH technique undetected with standard techniques, supporting the hypothesis for the presence of low percentage normal cells for survival. FISH proved to be a more sensitive technique compared to the conventional methods in detecting low grade mosaicism.