Figure 1.

Array-CGH and karyotyping in cases with inherited and de novo chromosomal rearrangements. Panel A. Array-CGH analysis resulting in telomeric rearrangements on two different chromosomes (left). On the X-axis, the log ratio is reported (log₂ intensity of [Cy5 fluorochrome/Cy3 fluorochrome)]. Expected values are from −0.7 to −1 for a deletion (green dots), 0 for normal (black dots), and +0.5 to +1 for a duplication (red dots). On the right side, GTG-banding of the chromosomes involved in the structural rearrangements. In cases marked by an asterisk, the chromosomes on the right are from the parent carrying the cryptic translocation, because patient karyotype image was not available. Breakpoints are indicated by red bars on chromosomal ideograms. In panel B, array-CGH analysis displays telomeric rearrangements in probands with de novo rearrangements.