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Article

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays.

Clinical genetics - 1 Dec 2025

Bizot Etienne, Jouni Dima, Rooryck Caroline, Taylor Juliet, Legendre Marine, Charbonnier Lorelei, Metreau Julia, Benaloun Emmanuelle, Pinson Audrey, Quenum Geneviève, Bouligand Jérôme, Tachdjian Gérard, Labrune Philippe, Tosca Lucie

Abstract excerpt

To date, only one study describes three unrelated cases of neurodevelopmental disorders associated with duplications in 22q13.2, which include the TCF20 gene. In contrast, TCF20 variants and deletions are well characterized. Here, we report six new cases of 22q13.2 gain, including TCF20, identified through array-comparative genomic hybridization (array-CGH). Probands exhibited neurodevelopmental delay, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40583527
DOI: 10.1111/cge.14781
PMCID: PMC12580483

Genes

TCF20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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