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

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

doi:10.3390/genes12111660

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.

Highlights

Roberta Milone 1, Raffaella Tancredi 1, Angela Cosenza 1, Anna Rita Ferrari 1, Roberta Scalise 1,2, Giovanni Cioni 1,3 and Roberta Battini 1,3, *
The CNVs were confirmed by quantitative polymerase chain reaction
The age of patients ranged from 3 years old to 17 years old

Summary

Introduction

Roberta Milone 1 , Raffaella Tancredi 1 , Angela Cosenza 1 , Anna Rita Ferrari 1 , Roberta Scalise 1,2 , Giovanni Cioni 1,3 and Roberta Battini 1,3, *. 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. 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, expressive variability is common. 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. Neurodevelopmental disorders could be considered either idiopathic or syndromic, depending on whether the neuropsychic conditions are isolated or associated with the involvement of malformations [1,2]. Array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test for individuals with both idiopathic and syndromic neurodevelopmental disorders [3,4,5]. It allows one to detect both sporadic genomic imbalances and recurrent microdeletion/microduplication syndromes [6,7]

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