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. 2020 Feb 19;117(9):4858–4863. doi: 10.1073/pnas.1910041117

Fig. 3.

Fig. 3.

Examples of plasma samples with focal deletions or amplifications. (A) RealSeqS data on a plasma sample from a normal individual with an ∼3-Mb deletion of chromosome 22, characteristic of DiGeorge syndrome. Note that many patients with microdeletions at this locus have mild signs and symptoms and are clinically undetected. (B) RealSeqS data on a typical plasma sample from a normal individual, showing no deletion at the DiGeorge locus. (C) RealSeqS data on a plasma sample from a patient with cancer showing a 2.5-Mb focal amplification that includes the ERBB2 locus on chromosome 17q. (D) RealSeqS data on a typical plasma sample from a normal individual, showing no amplification at the ERBB2 locus.