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Article

Phenotypic spectrum of 11p15.5 duplications: parent-of-origin and copy number variant size shape outcomes from Silver-Russell to Beckwith-Wiedemann syndromes.

Human genomics - 16 Mar 2026

Wang Chenyang, Zhang Hengyuan, Wang Meiying, Gao Juan, Lv Yibing, Huang Jianmei, Pan Shuxian, Wu Dong, Kang Bing, Hou Qiaofang, Liao Shixiu

Abstract excerpt

BACKGROUND: Genomic 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...

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

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Source

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Identifiers

PMID: 41840691
DOI: 10.1186/s40246-026-00942-x
PMCID: PMC13104442

Genes

CDKN1C
IGF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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