Introduction: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation. The pathogenic alterations and phenotypes are heterogeneous.
Methods: Here, we present a rare pedigree of duplications with different methylation patterns in 11p15.5, which caused SRS or a normal phenotype across three generations.
Results: Duplications of maternal IC2 (copy number of 3) with enhanced methylation (methylation index of 0.62) resulted in typical SRS.
Conclusion: The result added to the complexity of the molecular genetics of SRS.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686225 | PMC |
| http://dx.doi.org/10.3389/fgene.2024.1465521 | DOI Listing |
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