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Article

16p11.2 microdeletion syndrome: a case report.

Journal of medical case reports - 3 Apr 2018

Dell'Edera D, Dilucca C, Allegretti A, Simone F, Lupo M G, Liccese C, Davanzo R

Abstract excerpt

BACKGROUND: The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. CASE PRESENTATION: Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her parents' DNA were...

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Identifiers

PMID: 29609622
DOI: 10.1186/s13256-018-1587-1
PMCID: PMC5881179

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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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