FISH FOR SEX CHROMOSOME MOSAICISM (TURNER/KLINEFELTER SYNDROME) FROM BUCCAL CELLS

Description

Fluorescent in situ hybridization (FISH) using X and Y chromosome-specific probes on buccal cells can help diagnose sex chromosome mosaicism, particularly in Turner and Klinefelter syndromes. This technique allows for the detection of different cell lines (e.g., 45,X/46,XX or 46,XY/47,XXY) within the same individual, which is crucial as mosaicism can significantly impact the presentation and severity of these conditions.