Figure 2 | Genetics in Medicine

Figure 2

From: Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Figure 2

Examples of the inheritance patterns of pathogenic copy-number variants. (a) A deletion of 22q11.21 is identified in a patient with neurodevelopmental delay. (b) A heterozygous 800-kb deletion encompassing a dominant gene (PAX2) explains the phenotype of a patient with a renal disorder. (c) A compound heterozygous event including a deletion of the first six exons of PANK2 (depicted in the lower left panel) in combination with a hemizygous frameshift mutation. c.1317del p.Arg440fs (NM_153638.2) reads with hemizygous mutation in exon 4 (depicted in lower right panel) in a patient with visual disturbances. (d) A homozygous deletion encompassing STRC results in a recessive disease pattern, explaining the deafness phenotype.

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