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

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

doi:10.3390/genes12111660

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

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Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, 56128 Pisa, Italy

Tuscan PhD Program of Neuroscience, University of Florence, Pisa and Siena, 50139 Florence, Italy

Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy

Author to whom correspondence should be addressed.

Academic Editor: Emiliano Giardina

Genes 2021, 12(11), 1660; https://doi.org/10.3390/genes12111660

Received: 15 September 2021 / Revised: 15 October 2021 / Accepted: 19 October 2021 / Published: 21 October 2021

(This article belongs to the Section Human Genomics and Genetic Diseases)

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Abstract

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 variability is common. Here we describe a case series of 12 patients with 17q12 chromosomal imbalances, in order to expand the phenotypic characterization of these recurrent syndromes whose diagnosis is often underestimated, especially if only mild traits are present. Gene content and genotype-phenotype correlations have been discussed, with special regard to neuropsychiatric features, whose impact often requires etiologic analysis. View Full-Text

Keywords: autism spectrum disorder; intellectual disability; recurrent CNVs; psychiatric disorders; RCAD; epilepsy

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

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MDPI and ACS Style

Milone, R.; Tancredi, R.; Cosenza, A.; Ferrari, A.R.; Scalise, R.; Cioni, G.; Battini, R. 17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype. Genes 2021, 12, 1660. https://doi.org/10.3390/genes12111660

AMA Style

Milone R, Tancredi R, Cosenza A, Ferrari AR, Scalise R, Cioni G, Battini R. 17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype. Genes. 2021; 12(11):1660. https://doi.org/10.3390/genes12111660

Chicago/Turabian Style

Milone, Roberta, Raffaella Tancredi, Angela Cosenza, Anna R. Ferrari, Roberta Scalise, Giovanni Cioni, and Roberta Battini. 2021. "17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype" Genes 12, no. 11: 1660. https://doi.org/10.3390/genes12111660

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

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