De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma

Don Chamil Codipilly, Ralitza H. Gavrilova, Eric G. Tangalos

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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 patient who died at a young age of metastatic esophageal adenocarcinoma. Important learning points include the variable phenotypic expression of this microdeletion syndrome and the fact that clinicians must be thorough in investigating objective discrepancies in patients who cannot endorse classical symptoms.

Original languageEnglish (US)
Article numberbcr2016218016
JournalBMJ case reports
StatePublished - 2017

ASJC Scopus subject areas

  • General Medicine


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