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

Matthias Fischer; Eva Klopocki

doi:10.1159/000512486

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

Cytogenet Genome Res. 2020;160(11-12):659-663. doi: 10.1159/000512486. Epub 2021 Jan 20.

Authors

Matthias Fischer^{1

2}, Eva Klopocki³

Affiliations

¹ Department for Psychiatry and Psychotherapy, University of Rostock, Rostock, Germany, Matthias.Fischer@med.uni-rostock.de.
² Department for Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Würzburg, Germany, Matthias.Fischer@med.uni-rostock.de.
³ Institute of Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany.

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.

Keywords: 22q11.2; Atypical breakpoints; Duplication; Macrocephaly; Overgrowth.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology*
Adolescent
Adult
Child
Chromosome Duplication / genetics*
Chromosomes, Human, Pair 22 / genetics
Chromosomes, Human, Pair 8 / genetics
DNA Copy Number Variations
DiGeorge Syndrome / genetics*
DiGeorge Syndrome / pathology*
Female
Genetic Testing*
Humans
Infant
Male
Pedigree
Phenotype
Syndrome

Supplementary concepts

Chromosome 22q11.2 Microduplication Syndrome