Fig. 3

Results of X inactivation assay. Electropherograms using the 5meCpG-based RP2/AR repeat biplex PCR assay across the HpaII restriction site in the mother and daughter carrying a balanced X- autosometranslocation. Both mother and daughter are homozygous for the AR marker (allele 233bp). For the informative RP2 marker, the (X;22) translocated chromosome was identified by the maternal segregation pattern of the shared 372bp allele. The pattern of inactivation demonstrates that translocated (X;22) chromosome is active in 99.3% of the blood cells in the mother and in 88.0% of blood cells in the daughter. The boxed numbers correspond to the amplicon length (top) and the areas under the allele peaks (bottom). RFU: Relative fluorescence units