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Article

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).

American journal of medical genetics. Part A - 1 Jun 2010

Eggermann Thomas, Spengler Sabrina, Bachmann Nadine, Baudis Michael, Mau-Holzmann Ulrike A, Singer Sylke, Rossier Eva

Abstract excerpt

The role of 11p15 disturbances in the aetiology of Silver-Russell syndrome (SRS) is well established: in addition to hypomethylation of the H19/IGF2 differentially methylated regions, five patients with a duplication of maternal 11p15 material have been described. We report on a boy with SRS carrying a maternally inherited duplication of chromosome 11p15. The patient showed the typical clinical picture of SRS...

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Share to Child, Preschool
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to IGF2 gene

Share to Genetic Syndromes and Imprinting

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Share to Polymorphism, Single Nucleotide

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Share to Translocation, Genetic

Source

Identifiers

PMID: 20503324
DOI: 10.1002/ajmg.a.33398

Genes

IGF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).PMID 20503324Read ↗

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