A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies

(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 6.
Figure 6.

Model for the two-step genesis of the complex rearrangement observed in the supernumerary der(22)t(8;22) proband’s father. A germline inversion of a 22q11.2 region flanked by breakpoints in LCRs A and D occurred before a t(8;22) translocation, the breakpoints of which are located at the center of palindromic sequences at the recurrent LCR-B site (open arrows) and an AT-rich locus of 8q24.13 (solid arrows).

This Article

  1. Genome Res. 17: 470-481

Preprint Server