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Article

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

9 Sept 2011

Abstract excerpt

Silver-Russell syndrome (SRS) is characterized by severe intrauterine and postnatal growth retardation in association with a typical small triangular face and other variable features. Genetic and epigenetic disturbances are detected in about 50% of the patients. Most frequently, SRS is caused by altered gene expression on chromosome 11p15 due to hypomethylation of the telomeric imprinting center (ICR1) that is...

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Share to Epigenetics and DNA Methylation
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PMID: 21910219
DOI: 10.1002/ajmg.a.34023

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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndromePMID 21910219Read ↗

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.Semantic proximity Read ↗

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.Semantic proximity Read ↗

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.Semantic proximity Read ↗

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndromeSemantic proximity Read ↗

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.Semantic proximity Read ↗

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.Semantic proximity Read ↗

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.Semantic proximity Read ↗

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndromeSemantic proximity Read ↗

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.Semantic proximity Read ↗

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann SyndromesSemantic proximity Read ↗

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.Semantic proximity Read ↗

Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion.Semantic proximity Read ↗

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