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

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 char...

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Autores principales:	Roberta Milone, Raffaella Tancredi, Angela Cosenza, Anna Rita Ferrari, Roberta Scalise, Giovanni Cioni, Roberta Battini
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	autism spectrum disorder intellectual disability recurrent CNVs psychiatric disorders RCAD epilepsy Genetics QH426-470
Acceso en línea:	https://doaj.org/article/b366a990ff2246878dc9fb23b00cdd86
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spelling	oai:doaj.org-article:b366a990ff2246878dc9fb23b00cdd862021-11-25T17:40:22Z17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype10.3390/genes121116602073-4425https://doaj.org/article/b366a990ff2246878dc9fb23b00cdd862021-10-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1660https://doaj.org/toc/2073-4425Syndromic 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.Roberta MiloneRaffaella TancrediAngela CosenzaAnna Rita FerrariRoberta ScaliseGiovanni CioniRoberta BattiniMDPI AGarticleautism spectrum disorderintellectual disabilityrecurrent CNVspsychiatric disordersRCADepilepsyGeneticsQH426-470ENGenes, Vol 12, Iss 1660, p 1660 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	autism spectrum disorder intellectual disability recurrent CNVs psychiatric disorders RCAD epilepsy Genetics QH426-470
spellingShingle	autism spectrum disorder intellectual disability recurrent CNVs psychiatric disorders RCAD epilepsy Genetics QH426-470 Roberta Milone Raffaella Tancredi Angela Cosenza Anna Rita Ferrari Roberta Scalise Giovanni Cioni Roberta Battini 17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype
description	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.
format	article
author	Roberta Milone Raffaella Tancredi Angela Cosenza Anna Rita Ferrari Roberta Scalise Giovanni Cioni Roberta Battini
author_facet	Roberta Milone Raffaella Tancredi Angela Cosenza Anna Rita Ferrari Roberta Scalise Giovanni Cioni Roberta Battini
author_sort	Roberta Milone
title	17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype
title_short	17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype
title_full	17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype
title_fullStr	17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype
title_full_unstemmed	17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype
title_sort	17q12 recurrent deletions and duplications: description of a case series with neuropsychiatric phenotype
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/b366a990ff2246878dc9fb23b00cdd86
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17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype

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