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Article

De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma.

BMJ case reports - 20 Jan 2017

Codipilly Don Chamil, Gavrilova Ralitza H, Tangalos Eric G

Abstract excerpt

Microdeletions involving chromosome 2p15-16.1 are a rare genetic abnormality and have been reported in 18 separate patients, mainly children, since 2007. This microdeletion syndrome is characterised by a heterogeneous expression of intellectual impairment, dysmorphic facies, musculoskeletal abnormalities and potential neurodevelopmental anomalies. We report the first case of natural progression in an adult...

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Identifiers

PMID: 28108439
DOI: 10.1136/bcr-2016-218016
PMCID: PMC5256579

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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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