Complex Neuropsychiatric Presentation of 17q12 Duplication Syndrome: A Case Report

Overview

Journal SAGE Open Med Case Rep

Publisher Sage Publications

Specialty General Medicine

Date 2024 Feb 21

PMID 38379631

Authors

Soumitra Das

Lochana Samarasinghe

Sheryl Deva

Elaiza Marie Fernandez Co

Sujan Poudel

Tirth Dave

Sakshi Prasad

Ashish Sarangi

Affiliations

Soon will be listed here.

Abstract

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.

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