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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

Fig. 2

FISH analysis for patients 1, 2, 3, and 6. Patient 1: the SRY/DXZ1 probe was used. a Only one DXZ1 (green) signal was observed, indicating a 45,X karyotype. b Two SRY (red) signals and one DXZ1 (green) signal were observed, suggesting a 46,X,idic(Y) karyotype. Patient 2: the SRY/DXZ1 probe was used. c Two proximal SRY signals are shown in red, revealing that the breakpoint of this isodicentric Y chromosome was in the short arm of the Y chromosome. Patient 3: The different patterns of SRY (red) and DXZ1 (green) signals in (d), (e), and (f) suggested mosaicism of 45,X/46,X,idic(Y)/46,XY. g The DYZ3 probe was also applied to patient 3. One DYZ3 (red) centromeric signal was constricted while the other one was not, indicating that one centromere was inactivated. Patient 6: h Two DYZ3 (red) signals were observed at the isodicentric Y chromosome

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