Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report.
| Autor: | Das S; Department of Psychiatry, Western Health, Footscray, VIC, Australia., Samarasinghe L; Base Hospital Nikaweratiya, Nikaweratiya, Srilanka., Deva S; Kamineni Academy of Medical Sciences and Research Center, Hyderabad, Telangana, India., Fernandez Co EM; Cebu Institute of Medicine, Cebu, Philippines., Poudel S; Larkin Community Hospital, South Miami, FL, USA., Dave T; Bukovinian State Medical University, Chernivtsi, Ukraine., Prasad S; Vinnytsia National Pirogov Memorial Medical University, Vinnitsya, Ukraine., Sarangi A; University of Missouri, Columbia, MO, USA. |
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| Jazyk: | angličtina |
| Zdroj: | SAGE open medical case reports [SAGE Open Med Case Rep] 2024 Feb 19; Vol. 12, pp. 2050313X241233184. Date of Electronic Publication: 2024 Feb 19 (Print Publication: 2024). |
| DOI: | 10.1177/2050313X241233184 |
| Abstrakt: | The chromosomal band 17q12 is characterized by a high density of genes and is bordered by segmental duplications, the structural arrangement of which increases the susceptibility of the region to deletions and duplications. Duplication of 17q12 is a rare genetic condition associated with variable characteristics from clinically asymptomatic to intellectual disabilities, seizures, and behavioral problems. The variability in phenotype is primarily due to variable expressivity and incomplete penetrance. Diagnosis is mostly established by chromosomal microarray. Treatment involves a multidisciplinary approach. We present a case of a 43-year-old female who initially presented with hyperphagia and was eventually diagnosed with bulimia nervosa, anxiety, mood disorder, and personality disorder. Additional research is required to better understand the impact of 17q12 duplication syndrome on the development of bulimia nervosa since its pathogenesis has not been adequately described in the current literature. Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. (© The Author(s) 2024.) |
| Databáze: | MEDLINE |
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