Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome
Figure 5
Duplications in probands with ID/MCA.
Chromosome features for the regions of interest are shown versus physical position in Mb on the February 2009 human genome assembly. Red boxes on ideograms denote regions of detail. LCR and structural variant tracks were adapted from the UCSC Genome Browser. CNV and structural variation tracks show type and position of variants as reported in the general population: red, loss; green, gain; blue, both; grey, inversion. SNP copy number charts were derived from our microarray (black dots) and qPCR (Xs) results. Heat maps indicate p-values of observed copy number change for individual SNPs calculated using Partek Genomics Suite 6.3. Shading from blue to red represents probability from 0.0–1.0 of normal copy number. (A) Dup(1)(p36.11p35.3) in proband 8293. (B) De novo dup(2)(p22.1-2p16.1) in proband 9148. (C) De novo LCR-mediated dup(16)(p12.2-16p11.2) in proband 8464. (D1) and (D2) show detailed views of LCR architecture at the16p12.2 and 16p11.2 breakpoints, respectively. Directly oriented copies of UCSC segmental duplication 11963 are boxed in black.