ArticleHuman genomics2026
Phenotypic spectrum of 11p15.5 duplications: parent-of-origin and copy number variant size shape outcomes from Silver-Russell to Beckwith-Wiedemann syndromes.
Article in Human genomics, 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
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
backgroundGenomic imprinting at the 11p15.5 region is critically involved in fetal growth regulation. Disturbances in this region are primarily associated with two opposing growth disorders: Silver-Russell syndrome (SRS, growth restriction) and Beckwith-Wiedemann syndrome (BWS, overgrowth). While epigenetic alterations are well-characterized in SRS and BWS, copy number variants (CNVs) rearrangements remain incompletely understood, particularly in terms of how duplication size and parental origin shape the phenotypic spectrum.
methodsWe present a case series of three prenatally identified fetuses with 11p15.5 duplications, characterized by chromosomal microarray analysis and Methylation-Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA). Parental origin was determined by segregation analysis.
resultsCase A: A focal duplication of the maternally inherited allele encompassing only the ICR2/CDKN1C domain presented with severe isolated intrauterine growth restriction (IUGR), consistent with a SRS phenotype. Case B: A large duplication of the maternally inherited allele spanning both the ICR1/H19/IGF2 and ICR2/CDKN1C domains resulted in a complex phenotype of IUGR (SRS-like) with omphalocele (a BWS-associated anomaly), demonstrating a mixed and paradoxical presentation. Case C: A large duplication of the paternally inherited allele of the entire 11p15.5 region was associated with a BWS phenotype, presenting with macrosomia and other features, consistent with the predominant effect of paternal inheritance.
conclusionOur findings support a model in which parental origin shows a strong tendency to determine the direction of growth dysregulation (maternal allele duplications predominantly associate with SRS-like restriction; paternal allele duplications with BWS-like overgrowth), while duplication size contributes to phenotypic complexity, with larger rearrangements involving both ICRs more frequently associated with severe or blended features. However, exceptions to this generalization exist in the literature, highlighting that 11p15.5 duplication disorders exhibit variable penetrance and expressivity.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.