Figure 4

The MLPA and FISH analysis in the Pug family.
The family consisted of two XX, SRY-negative DSD females (A6 and B4) and their healthy parents: father (C2) and mother (C3). Bar plots represent the relative copy number (y-axis) of each CanSOX9+ probe (x-axis). The red bracket marks probes, where the signal is increased (5′SOX9_01–5′SOX9_07). Corresponding diagrams of the results of FISH analysis are shown next to the MLPA bar plots.