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Article

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.

Genes - 26 Jun 2020

Palumbo Orazio, Palumbo Pietro, Di Muro Ester, Cinque Luigia, Petracca Antonio, Carella Massimo, Castori Marco

Abstract excerpt

No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with a de novo 16q24.2q24.3 microduplication at the Single Nucleotide Polymorphism (SNP)-array analysis spanning ~2.2 Mb and encompassing 38 genes. The patient showed mild-to-moderate intellectual disability, speech...

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Identifiers

PMID: 32604767
DOI: 10.3390/genes11060707
PMCID: PMC7349372

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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