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

✍ Scribed by Lindsay, Elizabeth A. ;Shaffer, Lisa G. ;Carrozzo, Romeo ;Greenberg, Frank ;Baldini, Antonio

• Publisher: John Wiley and Sons
• Year: 1995
• Tongue: English
• Weight: 446 KB
• Volume: 56
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320560316

✦ Synopsis

We report on a case of duplication of the segment 22qll-12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D2224, 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.