
Dotter (http://www.cgr.ki.se/cgr/groups/sonnhammer/Dotter.html) analysis of 14 kb 20q:22q duplication showing very high primary structure conservation. This plot corresponds to coordinates ∼580,000–594,000 in (B) and is an alignment between Chr22_Z97056 and sequence at 20q13.2. The positions of a CpG island, the NABC3 gene interrupted by insertion of a LTR on chromosome 22, and the start of the ZNF217 gene are annotated. Results of fluorescence in situ hybridization (FISH) mapping of four bacterial artificial chromosome (BAC) clones isolated by screening the Caltech D human BAC library with duplicon-specific probes. The FISH mapping confirms chromosome duplications shown in Figures 1A, 1C, 3A, and in this figure.











