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Article

[16p11.2 Microdeletion: first report in Argentina].

Archivos argentinos de pediatria - 1 Dec 2017

Tardivo Agostina, Masotto Bárbara, Espeche Lucía, Solari Andrea P, Nevado Julián, Rozental Sandra

Abstract excerpt

The 16p11.2 recurrent microdeletion phenotype is characterized by developmental delay, intellectual disability, and/or autism spectrum disorder. This microdeletion is associated with variable clinical outcome, the phenotypical spectrum ranges from intellectual disability and/or multiple congenital anomalies, autism, learning and speech problems, to a normal Microdeleción 16p11.2: primeros casos reportados en...

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Identifiers

PMID: 29087133
DOI: 10.5546/aap.2017.e449

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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