Related Experiment Video
Updated: Jan 14, 2026
09:16
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
20.3K
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype
Anastasia Maria Licata1, Elke Botzenhart2, Katja Kloth-Stachnau3
1Center for Human Genetics and Genome Medicine, Medical Faculty, RWTH University Aachen, Aachen, Germany.
Clinical Genetics
|January 13, 2026
Summary
Copy number variations in the 11p15.5 region are linked to Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS). Consistent genotype-phenotype correlations were found for complete duplications, but partial alterations show varied outcomes.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Copy number variations (CNVs) in the 11p15.5 imprinted region are implicated in Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS).
- These CNVs account for over 2% of molecular disturbances in BWS/SRS and carry recurrence risks up to 50%.
Purpose of the Study:
- To establish a genotype-phenotype correlation for 11p15.5 copy number variations (CNVs).
- To clarify the clinical impact of CNVs affecting imprinting centers 1 (IC1) and 2 (IC2) in BWS and SRS.
Main Methods:
- Comprehensive literature review of published CNVs in the 11p15.5 region.
- Analysis of clinical data from carriers of these CNVs.
Main Results:
- Consistent genotype-phenotype correlations were identified for duplications involving both telomeric and centromeric regions or complete gains of one region.
- CNVs affecting only partial regions of IC1 or IC2 resulted in heterogeneous phenotypes.
Conclusions:
- The study supports the pathogenicity assessment of 11p15.5 CNVs for genetic counseling.
- Further research is needed to understand the molecular complexity and imprinting regulation in the 11p15.5 region.
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