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Figure 1:
Giemsa banding showed a karyotype of 45,X from peripheral blood lymphocytes (a) and a karyotype of 46,XY from the epithelial cells of the oral mucosa (b).
Figure 2:
Pedigree of the family in this case study. No numerical and/or structural anomalies were observed in the karyotypes of parents and siblings.
Figure 3:
Application of -FISH to confirm the presence of Y chromosome. SRY gene duplication on Y chromosome was analyzed by FISH. A positive SRY signal shown by the red light is found at the terminal Y p-arm. The centromere of the X chromosome is shown by the green light.