ArticleFrontiers in genetics2026
A rare
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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0 citing papers in PubMed.
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: 15q11.2-q13 duplication syndrome (Dup15q; OMIM #608636) is a rare neurodevelopmental disorder. While interstitial duplications (copy number = 3) are relatively well characterized, contiguous rearrangements comprising both tetrasomic (copy number = 4) and adjacent trisomic (copy number = 3) segments are rare. We report a Chinese girl with a Case Presentation: The patient was born at 35+2 weeks of gestation and presented with global developmental delay, severe autism spectrum disorder (CARS: 44), and profound cognitive and language impairment (GQ 30, GMQ 57 at 2 years 4 months). Brain MRI demonstrated delayed myelination, and magnetic resonance spectroscopy showed metabolic abnormalities in the left frontal lobe. Video-electroencephalography at 3 years of age revealed sleep-activated frontocentral epileptiform discharges without clinical seizures. Trio whole-genome sequencing with copy number variation analysis identified a Conclusion: This case expands the genomic spectrum of complex proximal 15q rearrangements and highlights the value of high-resolution genomic testing for resolving complex neurodevelopmental disorders. It also emphasizes that severe genetic etiologies may be overlooked when developmental abnormalities are initially attributed to prematurity. These findings support early comprehensive genomic evaluation in children with profound developmental delay, autism spectrum disorder, or persistent developmental impairment despite conventional rehabilitation.
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