Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

doi:10.1136/jmedgenet-2017-104919

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Article

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

Journal of medical genetics - 1 Mar 2018

Heide Solveig, Chantot-Bastaraud Sandra, Keren Boris, Harbison Madeleine D, Azzi Salah, Rossignol Sylvie, Michot Caroline, Lackmy-Port Lys Marilyn, Demeer Bénédicte, Heinrichs Claudine, Newfield Ron S, Sarda Pierre, Van Maldergem Lionel, Trifard Véronique, Giabicani Eloise, Siffroi Jean-Pierre, Le Bouc Yves, Netchine Irène, Brioude Frédéric

Abstract excerpt

BACKGROUND: The 11p15 region contains two clusters of imprinted genes. Opposite genetic and epigenetic anomalies of this region result in two distinct growth disturbance syndromes: Beckwith-Wiedemann (BWS) and Silver-Russell syndromes (SRS). Cytogenetic rearrangements within this region represent less than 3% of SRS and BWS cases. Among these, 11p15 duplications were infrequently reported and interpretation of...

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PMID: 29223973
DOI: 10.1136/jmedgenet-2017-104919

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IGF2

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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.PMID 29223973Read ↗

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 ↗

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

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.Semantic proximity Read ↗

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

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.Semantic proximity Read ↗

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

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Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.Semantic proximity Read ↗

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

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?Semantic proximity Read ↗

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