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

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.

SUBMITTER: Fischer M 

PROVIDER: S-EPMC8117256 | biostudies-literature |

REPOSITORIES: biostudies-literature