Fig. 4: Schematic representation of structural variations of the RB1 gene in two patients with Retinoblastoma. | npj Genomic Medicine

Fig. 4: Schematic representation of structural variations of the RB1 gene in two patients with Retinoblastoma.

From: Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes

Fig. 4: Schematic representation of structural variations of the RB1 gene in two patients with Retinoblastoma.

a A balanced translocation involving RB1 detected in S3 consists of two interchromosomal junctions. One junction connects breakpoint 1 (in the 2nd intron of the RB1 gene) and breakpoint 4 (in the 6th intron of the LRMDA gene), and the other junction juxtaposes breakpoint 3 (in the 17th intron of the RB1 gene) and breakpoint 4 (in the 6th intron of the LRMDA gene). Approximately 54 kbp region between breakpoint 1 and breakpoint 2 in the RB1 gene was deleted. b A deletion spanning a 44 kbp region spanning from the 20th intron of the RB1 gene to the 10th intron of the RCBTB2 gene.

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