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Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5\u2010Mb de novo deletion at proximal 22q11.21 region (between LCRs A\u2010D), combined with a 1.3\u2010Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F\u2010H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype\u2010phenotype correlation. 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