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Article

Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.

Cytogenetic and genome research - 1 Jan 2020

Fischer Matthias, Klopocki Eva

Abstract excerpt

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...

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Identifiers

PMID: 33472199
DOI: 10.1159/000512486
PMCID: PMC8117256

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