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. 2025 Feb;107(2):169-178.
doi: 10.1111/cge.14626. Epub 2024 Oct 10.

Chromosome 8p Syndromes Clinical Presentation and Management Guidelines

Kourtney Santucci  1 , Kristina E Malik  1 , Katie Angione  1 , Dana Bennink  2 , Andrea Gerk  2 , Drew Mancini  2 , Megan Stringfellow  1 , Tristen Dinkel  1 , Scott Demarest  1 , Andrea S Miele  1 , Margarita Saenz  1
Affiliations

Chromosome 8p Syndromes Clinical Presentation and Management Guidelines

Kourtney Santucci et al. Clin Genet. 2025 Feb.

Abstract

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 changes in 8p result in similar phenotype. In this report, we add to the phenotypic and functional description of these patients according to their specific chromosomal rearrangement, share neuro-psychometric values, and propose surveillance care guidelines for caregivers and medical providers of patients with Chromosome 8p Syndromes. Observations from clinical experience with 24 patients seen at our 8p-dedicated Multi-Disciplinary Neurogenetics program are shared.

Keywords: chromosomes; human; neurodevelopmental disorders; pair 8; practice guidelines; psychometrics.

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