Figure 2 | Genetics in Medicine

Figure 2

From: Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Figure 2

Examples of exon array comparative genomic hybridization data from four separate genes. Arrows mark the probes that identified the deletion or duplication. (a) A heterozygous deletion of exon 5 in NSD1 in a patient with Sotos syndrome. (b) A partial gene duplication including exons 3–4 in MECP2 in a female patient with Rett syndrome. (c) A heterozygous deletion of exon 31 in VPS13B (COH1) in a patient with Cohen syndrome; this patient also had a sequence change on the other allele. (d) A partial gene duplication including exons 1–5 in PTEN in a patient with Cowden syndrome.

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