Article
Clinical manifestations of chromosome 19p13.11 duplication.
Journal of medical genetics - 20 Mar 2026
Dutta Dibyendu, Keeney Megan, Matthews Nicole, Peron Kristina, Alali Abdulrazak, Martinez Ariel F, McGivern Bobbi, Boring Claire, Smith Scott C, Garg Ria
Abstract excerpt
BACKGROUND: Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of chromosome 19 have been associated with various clinical conditions, duplications remain poorly characterised. Here, we report three cases involving 19p13.11 duplication and describe the associated clinical phenotype....
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