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8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
Joint Authors
Di Rosa, Gabriella
Gagliano, Antonella
Pironti, Erica
Cucinotta, Francesca
Galati, Cecilia
Maggio, Roberta
Alquino, Maria Ausilia
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-07-12
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Gagliano, Antonella& Pironti, Erica& Cucinotta, Francesca& Galati, Cecilia& Maggio, Roberta& Alquino, Maria Ausilia…[et al.]. 2018. 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report. Case Reports in Medicine،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1144871
Modern Language Association (MLA)
Gagliano, Antonella…[et al.]. 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report. Case Reports in Medicine No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1144871
American Medical Association (AMA)
Gagliano, Antonella& Pironti, Erica& Cucinotta, Francesca& Galati, Cecilia& Maggio, Roberta& Alquino, Maria Ausilia…[et al.]. 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report. Case Reports in Medicine. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1144871
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1144871