19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update

Renata Nacinovich,1,2 Nicoletta Villa,3 Fiorenza Broggi,1,2 Cristina Tavaniello,1 Monica Bomba,1 Donatella Conconi,2 Serena Redaelli,2 Elena Sala,3 Marialuisa Lavitrano,2 Francesca Neri1,2 1Childhood and Adolescence Neuropsychiatric Unit, San Gerardo Hospital, 2School of Medicine and Surgery, Unive...

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Autores principales:	Nacinovich R, Villa N, Broggi F, Tavaniello C, Bomba M, Conconi D, Redaelli S, Sala E, Lavitrano M, Neri F
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2017
Materias:	19q duplication neuropsychiatric follow-up array-CGH Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/c5382983b424404e80a196882cba3482
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spelling	oai:doaj.org-article:c5382983b424404e80a196882cba34822021-12-02T05:01:42Z19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update1178-2021https://doaj.org/article/c5382983b424404e80a196882cba34822017-10-01T00:00:00Zhttps://www.dovepress.com/19q12q132-duplication-syndrome-neuropsychiatric-long-term-follow-up-of-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Renata Nacinovich,1,2 Nicoletta Villa,3 Fiorenza Broggi,1,2 Cristina Tavaniello,1 Monica Bomba,1 Donatella Conconi,2 Serena Redaelli,2 Elena Sala,3 Marialuisa Lavitrano,2 Francesca Neri1,2 1Childhood and Adolescence Neuropsychiatric Unit, San Gerardo Hospital, 2School of Medicine and Surgery, University of Milano Bicocca, 3Medical Genetics Laboratory, Clinical Pathology Department, San Gerardo Hospital, Monza, Italy Abstract: Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients’ quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome. Keywords: 19q duplication, neuropsychiatric follow-up, array-CGHNacinovich RVilla NBroggi FTavaniello CBomba MConconi DRedaelli SSala ELavitrano MNeri FDove Medical Pressarticle19q duplicationneuropsychiatric follow-uparray-CGHNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 13, Pp 2545-2550 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	19q duplication neuropsychiatric follow-up array-CGH Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	19q duplication neuropsychiatric follow-up array-CGH Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Nacinovich R Villa N Broggi F Tavaniello C Bomba M Conconi D Redaelli S Sala E Lavitrano M Neri F 19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
description	Renata Nacinovich,1,2 Nicoletta Villa,3 Fiorenza Broggi,1,2 Cristina Tavaniello,1 Monica Bomba,1 Donatella Conconi,2 Serena Redaelli,2 Elena Sala,3 Marialuisa Lavitrano,2 Francesca Neri1,2 1Childhood and Adolescence Neuropsychiatric Unit, San Gerardo Hospital, 2School of Medicine and Surgery, University of Milano Bicocca, 3Medical Genetics Laboratory, Clinical Pathology Department, San Gerardo Hospital, Monza, Italy Abstract: Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients’ quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome. Keywords: 19q duplication, neuropsychiatric follow-up, array-CGH
format	article
author	Nacinovich R Villa N Broggi F Tavaniello C Bomba M Conconi D Redaelli S Sala E Lavitrano M Neri F
author_facet	Nacinovich R Villa N Broggi F Tavaniello C Bomba M Conconi D Redaelli S Sala E Lavitrano M Neri F
author_sort	Nacinovich R
title	19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
title_short	19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
title_full	19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
title_fullStr	19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
title_full_unstemmed	19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
title_sort	19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
publisher	Dove Medical Press
publishDate	2017
url	https://doaj.org/article/c5382983b424404e80a196882cba3482
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19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update

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