Figure 1.

Partial karyotype and molecular findings on the derivative chromosome 12. (a) A partial karyotype showing the normal and the derivative chromosome 12, and a schematic representation of the two chromosomes and the identified rearrangement; the red line represents the deletion associated with the translocation at 12q21.31. (b) The breakpoint region at 12q21.31. The mate pair coverage is shown in black. A deletion detected by SNP 6.0 array is represented by a red bar; note the corresponding low coverage of the mate pair reads. The translocation breakpoint, represented by blue reads mapping to 12q21.31 and green reads mapping to 18q12.2, flanks the deletion. (c) Zoom in on the translocation region (gray shaded area in b). No RefSeq genes were located at the breakpoint.