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Article

17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.

Genes - 21 Oct 2021

Milone Roberta, Tancredi Raffaella, Cosenza Angela, Ferrari Anna Rita, Scalise Roberta, Cioni Giovanni, Battini Roberta

Abstract excerpt

Syndromic neurodevelopmental disorders are usually investigated through genetics technologies, within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, although expressive...

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Identifiers

PMID: 34828266
DOI: 10.3390/genes12111660
PMCID: PMC8620923

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