Structural depiction and functional assay of partial MECP2 duplication. a. Genomic structure for consultand (BAB3149) and father (BAB3150) surmised using array CGH and breakpoint sequencing analysis. Both wild type (reference) and post-duplication structures are shown for comparison; b. PCR assay and sequencing results for the MECP2-TEX28 fusion gene junction flanked by primers Exon4_R + TEXon2_F3; c. Relative MECP2A mRNA assay for affected family (HOU1230). Control samples: CTL02 and 3059 are males carrying one copy of MECP2; CTL01 is a female carrying one copy of MECP2; 2623 and 2666 are male patients carrying two copies of MECP2 ; 2805 is a male patient carrying three copies of MECP2 . Relative fold of mRNA expression changes were calculated using the comparative threshold cycle method (ddCT).