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1.
Figure 1

Figure 1. From: Structural Variation of Chromosomes in Autism Spectrum Disorder.

Genome-wide Distribution of CNVs
CNVs from the Autism Chromosome Rearrangement Database (ACRD) are plotted to the right of each chromosome (black). CNV data from the autism-specific stringent data set from the current study are shown to the left of the chromosome and is categorized as de novo (blue), overlapping/recurrent (green), CNVs overlapping with structural variation from the ACRD (yellow), and singleton CNVs (red). Note that five CNVs belong to both de novo and the recurrent categories and these are denoted by an asterisk (see Tables 2 and 3). All CNV data sets are described in Table 1 and the characteristics of the 277 CNVs depicted here are described in Table S3. The raw data from all are present in the Gene Expression Omnibus database.

Christian R. Marshall, et al. Am J Hum Genet. 2008 February 8;82(2):477-488.
2.
Figure 2

Figure 2. From: Structural Variation of Chromosomes in Autism Spectrum Disorder.

Examples of Complexities of Structural Variants Observed in ASD Families
Males are denoted by squares and females by circles. The size of each de novo or inherited event is shown below each family member. Arrows identify the proband, open shapes are unaffected, and filled have ASD diagnosis (gray denotes developmental delay but not a definitive ASD diagnosis). Diamonds indicate number of older unaffected siblings of unspecified gender. For ASD cases, probands may have multiple de novo events (A), including rearrangements overlapping genes known to be associated with ASD such as SHANK3 (B). Probands may also inherit chromosome X deletions (at PTCHD1) from female carriers (C) or have an inherited translocation in addition to an unrelated de novo deletion (D). Overlapping events in unrelated probands may be either de novo (E) or inherited (F) at the DPP6 locus. Recurrent de novo events in unrelated probands may also be either losses (G) or gains (H) at chromosome 16p11.2. Additional ASD families with CNVs at DPP6 and 16p11.2 are shown in Figures S4 and S5, respectively.

Christian R. Marshall, et al. Am J Hum Genet. 2008 February 8;82(2):477-488.

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