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Gagliano A, Pironti E, Cucinotta F, et al. 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report. Case Rep Med. 2018;2018:3871425doi: 10.1155/2018/3871425.
Gagliano, A., Pironti, E., Cucinotta, F., Galati, C., Maggio, R., Alquino, M. A., & Di Rosa, G. (2018). 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report. Case reports in medicine, 20183871425. https://doi.org/10.1155/2018/3871425
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 vol. 2018 (2018): 3871425. doi: https://doi.org/10.1155/2018/3871425
Gagliano A, Pironti E, Cucinotta F, Galati C, Maggio R, Alquino MA, Di Rosa G. 8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report. Case Rep Med. 2018 Jul 12;2018:3871425. doi: 10.1155/2018/3871425. eCollection 2018. PMID: 30123278; PMCID: PMC6079567.
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Case Rep Med. 2018 Jul 12;2018:3871425. doi: 10.1155/2018/3871425. eCollection 2018.

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

Case reports in medicine

Antonella Gagliano, Erica Pironti, Francesca Cucinotta, Cecilia Galati, Roberta Maggio, Maria Ausilia Alquino, Gabriella Di Rosa

Affiliations

  1. Department of the Adult and Developmental Age Human Pathology, Unit of Child Neurology and Psychiatry, University Hospital of Messina, Messina, Italy.

PMID: 30123278 PMCID: PMC6079567 DOI: 10.1155/2018/3871425

Abstract

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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