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Article

Early Developmental Sequelae and Neurobiological Phenotype of Patient With 1q24.2q44 Trisomy.

Pediatrics - 1 Jun 2026

Hudac Caitlin M, Thomas Cecilia, Neger Emily, Bradshaw Jessica

Abstract excerpt

Partial trisomy of chromosome 1q is exceedingly rare, with few reported cases surviving past infancy. We present a prospective longitudinal case of partial mosaic trisomy 1q24.2q44 with co-occurring autism spectrum disorder (ASD). In addition to the chromosomal abnormality, the case study patient (herein, "CS") had a first-degree relative with ASD, representing dual genetic liability. CS's profile is...

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Identifiers

PMID: 42156006
DOI: 10.1542/peds.2025-073890

Genes

CS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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