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Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.

Clinical genetics - 1 Feb 2025

Santucci Kourtney, Malik Kristina E, Angione Katie, Bennink Dana, Gerk Andrea, Mancini Drew, Stringfellow Megan, Dinkel Tristen, Demarest Scott, Miele Andrea S, Saenz Margarita

Abstract excerpt

Rearrangements of the p-arm of Chromosome 8 can result in a spectrum of neurodevelopmental challenges, along with increased risk of epilepsy, structural brain and cardiac malformations, persisting developmental delays, and other health challenges. The majority of patients reported on in this sample are characterized by an inverted-duplication deletion rearrangement, but deletions, duplications, and mosaic ring...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39390634
DOI: 10.1111/cge.14626

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