H. Utami, Kagistia M. Hillmer, Axel Aksoy, Irene G. Y. Chew, Elaine S. M. Teo, Audrey Zhang, Zhenshui W. H. Lee, Charlie J. Chen, Pauline Chee Seng, Chan N. Ariyaratne, Pramila L. Rouam, Sigrid Seong Soo, Lim Yousoof, Saira Prokudin, Ivan Peters, Gregory Collins, Felicity Wilson, Meredith Kakakios, Alyson Haddad, Georges Menuet, Arnaud Perche, Olivier Kiat Hong Tay, Stacey W. K. Sung, Ken Ruan, Xiaoan Ruan, Yijun Liu, Edison T. Briault, Sylvain V. Jamieson, Robyn Davila, Sonia Cacheux, Valere 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> genetics;cytogenetics;Cytogenetic techniques;Heredity;phenotypes;Human genetics;Chromosomal disorders;translocations;Genetic association studies;x-linked;Genetics of disease;genomics;Genome sequencing;cd5;translocation 2014-03-06
    https://plos.figshare.com/articles/figure/_Patient_CD5_with_translocation_t_9_17_/954599
10.1371/journal.pone.0090852.g001