Patient CD5 with translocation t(9;17).

<p>A) The pedigree of patient CD5 is indicated. The translocation is transmitted to his two sons (CD21 and CD22). B) Translocation between chromosome 9 and 17 were validated by Sanger sequencing in three translocation carriers. The reference sequence is indicated, showing the fusion of two genes at the genomic level: the first five exons of <i>GNAQ</i> fused to exon 3–14 of <i>RBFOX3</i> and the first two exons of <i>RBFOX3</i> fused to exon 6–7 of <i>GNAQ.</i> C) mRNA expression of <i>GNAQ</i> and <i>RBFOX3</i> showed high expression in fetal brain, adult brain and cerebellum in human tissue panel.</p>