Figure 1

Examples of validation cohort results. I-Multiplex-PCR assay for the analysis of the mutational hotspot of FMR1 CGG alleles (blue label), AFF2 CCG alleles (green label) and ARX ex2p (380 bp green fragment). Profile: (a) AFF2 intermediate allele (47 CCGs); (b) c.429_452dup of ARX gene; (c) FMR1 premutation (120 CGGs); (d) FXS male mosaic with an FMR1 intermediate allele (51 CGGs) and a full mutation. II-Sequencing results: (a) CGG repetitive region of FMR1 gene (sense strand) showing the reproducibly sequenced premutated allele with 110 triplets; (b) AFF2 intermediate allele (47 CCGs) (reverse strand); (c) Partial nucleotide sequence of the ARX gene exon 2 (sense strand), showing the prevalent ARX mutation c.429_452dup. The box indicates the most upstream twenty-four base pair sequence that is duplicated. The two stretches of repetitive triplets coding for alanine (poly AI and AII) are underlined.