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- W2116113952 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." @default.
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- W2116113952 date "1995-01-01" @default.
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- W2116113952 title "De novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization" @default.
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- W2116113952 doi "https://doi.org/10.1002/ajmg.1320560316" @default.
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