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. 2021 Oct 21;12(11):1660.
doi: 10.3390/genes12111660.

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

Roberta Milone  1 , Raffaella Tancredi  1 , Angela Cosenza  1 , Anna Rita Ferrari  1 , Roberta Scalise  1   2 , Giovanni Cioni  1   3 , Roberta Battini  1   3
Affiliations

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

Roberta Milone et al. Genes (Basel). .

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.

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

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Conflict of interest statement

Authors declare no conflict of interest.

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