Supporting Information

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Fig. S1. X-inactivation analysis after 5-BrdU incorporation, in the t(X;22) carrier. The normal X chromosome was late replicating (inactive) in 60 metaphases from peripheral blood lymphocytes analyzed.

Fig. S2. X-inactivation assay based on the methylation status of the AR locus in peripheral blood cells: The alleles were amplified from genomic DNA, undigested (graphs A, C, E) and digested by the methylation-sensitive enzyme HpaII (graphs B, D, F). After digestion, only the methylated alleles, on the inactive X, are amplified. The inactivation ratio (82:18) shows that the same allele is inactive in 82% of the cells. The comparison of the patient's alleles with those of her parents shows that the maternally inherited X chromosome is predominantly inactivated.

Table S1. BAC and PAC clones used as FISH probes for the mapping of chromosomes X and 22 breakpoint regions.

Additional Supporting information may be found in the online version of this article.

CGE_1854_sm_fs1.tif807KSupporting info item
CGE_1854_sm_fs2.tif431KSupporting info item
CGE_1854_sm_tS1.docx13KSupporting info item

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