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Article

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

American journal of medical genetics. Part A - 1 Aug 2014

Filges Isabel, Sparagana Steven, Sargent Michael, Selby Kathryn, Schlade-Bartusiak Kamilla, Lueder Gregg T, Robichaux-Viehoever Amy, Schlaggar Bradley L, Shimony Joshua S, Shinawi Marwan

Abstract excerpt

The phenotype of recurrent ∼600 kb microdeletion and microduplication on proximal 16p11.2 is characterized by a spectrum of neurodevelopmental impairments including developmental delay and intellectual disability, epilepsy, autism and psychiatric disorders which are all subject to incomplete penetrance and variable expressivity. A variety of brain MRI abnormalities were reported in patients with 16p11.2...

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Identifiers

PMID: 24891046
DOI: 10.1002/ajmg.a.36605

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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