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Updated: Nov 20, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth
Matthias Fischer1,2, Eva Klopocki3
1Department for Psychiatry and Psychotherapy, University of Rostock, Rostock, Germany, Matthias.Fischer@med.uni-rostock.de.
Abstract:
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.
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