Figure 3.

(a) genomic profile of chromosome X; (b) detailed view of the microduplication of about 147 kb in Xq26.2; (c) FIRRE exons structure (NR_026975; https://genome.ucsc.edu/) with the localization of 156-bp repeating RNA domains (RRDs), as proposed by Hacisuleyman et al. 2014 [20], all included within the duplicated segment (dashed lines); (d) Real-Time quantitative PCR (qPCR) performed to genomic DNA quantification of FIRRE gene showed two copies of FIRRE (Xq26.2) on the proband’s (duplicated) and maternal (normal) DNA and one copy on the father (normal). A 5-year-old male child was considered as a control.