Atypical 22q11.2 Microduplication with Typical Signs and Overgrowth

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.

Automated summary

The 22q11.2 microduplication syndrome exhibits variable phenotypes with reduced penetrance compared to the 22q11.2 deletion syndrome. The reported case of a woman with overgrowth, macrocephaly, and a 246-kb duplication at the 22q11.2 region resembles a previously published case with similar features and an almost identical 252 kb duplication.