De novo tandem duplication of chromosome segment 22q11‐q12: Clinical, cytogenetic, and molecular characterization

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Abstract
We report on a case of duplication of the segment 22q11–q12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D22Z4, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker proximal to the Ewing sarcoma breakpoint. The segment includes the regions responsible for the “cat‐eye,” Di George, and velo‐cardio‐facial syndromes and extends distal to the breakpoint cluster region (BCR). The clinical picture is dominated by the cardiac defects and includes findings reminiscent of “cat‐eye” syndrome. These findings reinforce the hypothesis that the proximal 22q region contains dosagesensitive genes involved in development. © Wiley‐Liss, Inc.