The 22q11.2 microduplication syndrome shows variable phenotypes with reduced penetrance compared to the 22q11.2 deletion syndrome. We report a woman with overgrowth and macrocephaly, mild mental retardation, heart defect, kidney anomalies, and dysmorphic features. Array-CGH analysis revealed a 246-kb duplication at the 22q11.2 region. No additional clinically significant CNVs were found. The case resembles a previously published case also showing overgrowth and macrocephaly with an almost identical 22q11.2 duplication of 252 kb.

中文翻译：

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具有“典型”迹象和过度生长的非典型 22q11.2 微重复

与 22q11.2 缺失综合征相比，22q11.2 微重复综合征表现出不同的表型，外显率降低。我们报告了一名患有过度生长和巨头畸形、轻度智力低下、心脏缺陷、肾脏异常和畸形特征的女性。Array-CGH 分析揭示了 22q11.2 区域的 246-kb 重复。没有发现其他具有临床意义的 CNV。该病例类似于先前发表的病例，也显示过度生长和巨头畸形，具有几乎相同的 22q11.2 重复 252 kb。