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Fig. 1.

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Fig. 1. Results of conventional laboratory tests and OGM for S4. (A) CBA revealed an insertion in the long arm of chromosome 9. (B) Whole-genome circos plot obtained by OGM showing MYC amplification. (C) FISH was performed using Vysis probes (Abbott Molecular). (D) NGS CNV analysis showing amplification of the q24.21 band in chromosome 8.
Abbreviations: OGM, optical genome mapping; CBA, chromosomal banding analysis; chr, chromosome; CNV, copy number variant.
Ann Lab Med 2024;44:324~334 https://doi.org/10.3343/alm.2023.0339

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