Figure 3

Test group results. Number of male samples per allele profile of both FMR1 and AFF2 loci. Intermediate alleles are grey shaded. In dark grey the premutations identified in both FMR1 and AFF2 are shown. Percentage of the most frequently identified allele for both genes is indicated. Cases with different ARX variants are surrounded by boxes. [na] – absence of amplification for AFF2 gene. ARX variant type: ^a9 bp deletion (two samples); ^b15 bp deletion (three samples); ^c24 bp deletion; ^d33 bp deletion; ^e3 bp insertion/duplication; ^f12 bp insertion/duplication; ^g24 bp insertion/duplication (four subjects). Klinefelter cases are not represented as the allelic phase was unknown.