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Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report

التفاصيل البيبلوغرافية
العنوان: Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report
المؤلفون: Soumitra Das, Lochana Samarasinghe, Sheryl Deva, Elaiza Marie Fernandez Co, Sujan Poudel, Tirth Dave, Sakshi Prasad, Ashish Sarangi
المصدر: SAGE Open Medical Case Reports, Vol 12 (2024)
بيانات النشر: SAGE Publishing, 2024.
سنة النشر: 2024
المجموعة: LCC:Medicine (General)
مصطلحات موضوعية: Medicine (General), R5-920
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2050-313X
2050313X
Relation: https://doaj.org/toc/2050-313X
DOI: 10.1177/2050313X241233184
URL الوصول: https://doaj.org/article/b923f56f3d644020b287dda20b0d2567
رقم الأكسشن: edsdoj.b923f56f3d644020b287dda20b0d2567
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:2050313X
DOI:10.1177/2050313X241233184