Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 7.
Figure 7.

Predicted mechanism for unequal crossing-over leading to the WBS deletion. Heterozygosity for a large CNV in the region, such as the represented WBS-CNV1del, can facilitate the misalignment of chromosome 7 homologs in meiosis I and the unequal crossing-over (black X) between blocks Bc and Bm, leading to the most common 1.55-Mb WBS deletion. The normal allele is represented with continuous lines and arrows, while the chromosome carrying the CNV is represented by dotted lines and arrows.

This Article

  1. Genome Res. 18: 683-694

Preprint Server