Figure 2.

Genomic nature of the duplications observed in patients 9 and 28. (a) Cluster analysis revealed the position of the duplications on chromosome band 4q34.1 in patient 9. (b) The duplications on chromosome X in patient 28 lead to a complex rearrangement, which was resolved by cluster analysis. A microhomology of 2 bp was observed at the first boundary and at the second Alu elements with a similarity of 93% were noted. Clusters of aberrant mates are indicated at the bottom as blue arrows linked together by the dashed lines. The direction of the arrows indicates the orientation of the reads (both experiments were done on the HiSeq).