Prevalence of fragile X syndrome in males and females in Indonesia

Figure 1 Pedigrees of fragile X syndrome families. Besides the nine index cases (indicated by an arrow), six additional family members with a full mutation (five females, full black circle and one male, indicated by full black square) and 17 individuals [11 males; five females (indicated by dotted circle)] with a premutation have been identified. The length of the CGG repeats is depicted below the pedigree number of each tested individual. The X-inactivation (XCI) of full expansion females is shown at the upper right of the pedigree symbol (+ for non-random XCI and - for random XCI). Asterisk at the upper right indicated a mosaic permutation to full mutation.

Figure 2 Clinical pictures of patients with fragile X syndrome. Fam: Family.