Clinical manifestations of chromosome 19p13.11 duplication

20260 citationsJournal Article

Authors

Dibyendu Dutta · SUNY Upstate Medical University

Megan Keeney · East Tennessee Children's Hospital

Nicole Matthews · West Virginia University

Kristina Peron · West Virginia University

Abdulrazak Alali · West Virginia University

Ariel F Martinez

Bobbi McGivern

Claire A. Boring

Abstract

This is the first comprehensive clinical and molecular characterisation of 19p13.11 duplications, suggesting a recurring multisystem phenotype driven by gene dosage sensitivity. These findings support the inclusion of 19p13.11 duplications in diagnostic evaluations for neurodevelopmental and multisystem disorders.

Topics & Keywords

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Neurogenetic and Muscular Disorders Research

Publication Details

Published in: Journal of Medical Genetics

Volume 63, Issue 4, pp. 235-243

DOI: 10.1136/jmg-2025-111154

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Clinical manifestations of chromosome 19p13.11 duplication

Authors

Abstract

Topics & Keywords

Publication Details