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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Dove Medical Press
2017
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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. |
format | Online Article Text |
id | pubmed-5634390 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
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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