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Article

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.

Journal of human genetics - 1 Oct 2017

Dateki Sumito, Kagami Masayo, Matsubara Keiko, Izumi Kei, Watanabe Satoshi, Nakatomi Akiko, Kondoh Tatsuro, Fukami Maki, Moriuchi Hiroyuki

Abstract excerpt

Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR) on chromosome 11p15.5 is the most common cause of the SRS...

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Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28592837
DOI: 10.1038/jhg.2017.62

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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