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8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report

Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not...

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Autores principales: Gagliano, Antonella, Pironti, Erica, Cucinotta, Francesca, Galati, Cecilia, Maggio, Roberta, Alquino, Maria Ausilia, Di Rosa, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079567/
https://www.ncbi.nlm.nih.gov/pubmed/30123278
http://dx.doi.org/10.1155/2018/3871425
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author Gagliano, Antonella
Pironti, Erica
Cucinotta, Francesca
Galati, Cecilia
Maggio, Roberta
Alquino, Maria Ausilia
Di Rosa, Gabriella
author_facet Gagliano, Antonella
Pironti, Erica
Cucinotta, Francesca
Galati, Cecilia
Maggio, Roberta
Alquino, Maria Ausilia
Di Rosa, Gabriella
author_sort Gagliano, Antonella
collection PubMed
description Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri's pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.
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spelling pubmed-60795672018-08-19 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report Gagliano, Antonella Pironti, Erica Cucinotta, Francesca Galati, Cecilia Maggio, Roberta Alquino, Maria Ausilia Di Rosa, Gabriella Case Rep Med Case Report Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri's pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders. Hindawi 2018-07-12 /pmc/articles/PMC6079567/ /pubmed/30123278 http://dx.doi.org/10.1155/2018/3871425 Text en Copyright © 2018 Antonella Gagliano et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gagliano, Antonella
Pironti, Erica
Cucinotta, Francesca
Galati, Cecilia
Maggio, Roberta
Alquino, Maria Ausilia
Di Rosa, Gabriella
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
title 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
title_full 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
title_fullStr 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
title_full_unstemmed 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
title_short 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
title_sort 8q22.1 microduplication syndrome: why the brain should be spared? a literature review and a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079567/
https://www.ncbi.nlm.nih.gov/pubmed/30123278
http://dx.doi.org/10.1155/2018/3871425
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