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Article

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

Journal of medical genetics - 1 Mar 2021

Eggermann Thomas, Kraft Florian, Lausberg Eva, Ergezinger Katrin, Kunstmann Erdmute

Abstract excerpt

BACKGROUND: The chromosomal region 11p15.5 harbours two imprinting centres (H19/IGF2:IG-DMR/IC1, KCNQ1OT1:TSS-DMR/IC2). Molecular alterations of the IC2 are associated with Beckwith-Wiedemann syndrome (BWS), whereas only single patients with growth retardation and Silver-Russell syndrome (SRS) features have been reported. CNVs in 11p15.5 account for less than 1% of patients with BWS and SRS, and they mainly...

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Share to Beckwith-Wiedemann Syndrome
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Insulin-Like Growth Factor II

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Share to Potassium Channels, Voltage-Gated

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Identifiers

PMID: 32447323
DOI: 10.1136/jmedgenet-2020-106868

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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