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

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 year...

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Autores principales: Nacinovich, Renata, Villa, Nicoletta, Broggi, Fiorenza, Tavaniello, Cristina, Bomba, Monica, Conconi, Donatella, Redaelli, Serena, Sala, Elena, Lavitrano, Marialuisa, Neri, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634390/
https://www.ncbi.nlm.nih.gov/pubmed/29042784
http://dx.doi.org/10.2147/NDT.S142356
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author Nacinovich, Renata
Villa, Nicoletta
Broggi, Fiorenza
Tavaniello, Cristina
Bomba, Monica
Conconi, Donatella
Redaelli, Serena
Sala, Elena
Lavitrano, Marialuisa
Neri, Francesca
author_facet Nacinovich, Renata
Villa, Nicoletta
Broggi, Fiorenza
Tavaniello, Cristina
Bomba, Monica
Conconi, Donatella
Redaelli, Serena
Sala, Elena
Lavitrano, Marialuisa
Neri, Francesca
author_sort Nacinovich, Renata
collection PubMed
description 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.
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spelling pubmed-56343902017-10-17 19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update Nacinovich, Renata Villa, Nicoletta Broggi, Fiorenza Tavaniello, Cristina Bomba, Monica Conconi, Donatella Redaelli, Serena Sala, Elena Lavitrano, Marialuisa Neri, Francesca Neuropsychiatr Dis Treat Case Report 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. Dove Medical Press 2017-10-04 /pmc/articles/PMC5634390/ /pubmed/29042784 http://dx.doi.org/10.2147/NDT.S142356 Text en © 2017 Nacinovich et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Case Report
Nacinovich, Renata
Villa, Nicoletta
Broggi, Fiorenza
Tavaniello, Cristina
Bomba, Monica
Conconi, Donatella
Redaelli, Serena
Sala, Elena
Lavitrano, Marialuisa
Neri, Francesca
19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
title 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_short 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634390/
https://www.ncbi.nlm.nih.gov/pubmed/29042784
http://dx.doi.org/10.2147/NDT.S142356
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