title: De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Mayo Clinic Minnesota, Rochester, Minnesota, USA.
authors.forename: Don Chamil
authors.identifier: http://orcid.org/0000-0003-3197-0539
authors.initials: DC
authors.lastname: Codipilly
authors.affiliation: Department of Clinical Genomics and Neurology, Mayo Clinic Minnesota, Rochester, Minnesota, USA.
authors.forename: Ralitza H
authors.initials: RH
authors.lastname: Gavrilova
authors.affiliation: Department of Primary Care Internal Medicine, Mayo Clinic Minnesota, Rochester, Minnesota, USA.
authors.forename: Eric G
authors.initials: EG
authors.lastname: Tangalos
mesh_terms: D000230:Adenocarcinoma / Q000150:complications* / Q000556:secondary; D000328:Adult; D001859:Bone Neoplasms / Q000150:complications* / Q000556:secondary; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications* / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004827:Epilepsy / Q000150:complications; D004938:Esophageal Neoplasms / Q000150:complications* / Q000473:pathology; D004948:Esotropia / Q000150:complications; D019066:Facies; D020233:Gait Disorders, Neurologic / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008831:Microcephaly / Q000150:complications; D009123:Muscle Hypotonia / Q000150:complications; D010641:Phenotype; D013933:Thumb / Q000002:abnormalities