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. 2024 Dec 23;17:294. doi: 10.1186/s12920-024-02059-3

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© The Author(s) 2024

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Fig. 1 — A karyotype analysis results of the 46,XX,dup(16)(q12.1q22.1) proband: the red arrow indicates chromosome 16 duplicated region; B CNVseq results of the proband: the red framed rectangle and the red arrow indicate the duplicated region; WES results of the proband: the red rectangle and the red arrow point to the duplicated region