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. 2018 May 20;6(4):627–637. doi: 10.1002/mgg3.412

Figure 4.

Figure 4

Schema indicating the results of the MLPA and the CytoScan HD array analyses performed to narrow down the breakpoints of the SMARCB1 germline deletion identified in the family studied here. According to these results, breakpoint‐spanning PCRs were performed to identify the breakpoints at highest resolution. (a) The genomic positions of the MLPA probes are indicated as well as the relative locations of the SMARCB1 exons. (b) The relative positions of the array probes as well as their genomic locations are presented in this part of the schema. MLPA and array probes indicating the loss of one copy in the patient are labeled as “del” whereas those indicating diploid copy numbers are labeled as “2n”. (c) Breakpoint‐spanning PCRs performed with primers represented as green arrows revealed that the deletion region encompasses 6,388‐bp and involves parts of SMARCB1 intron 7, complete exon 8, intron 8, exon 9 and 3,302‐bp located telomeric to exon 9. The genomic positions indicated are according to the human genome reference sequence (hg19)