alexa 4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

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Case Report

4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder

Maria Emília Pereira1*, Ricardo Caetano Silva1,2, Ana Velosa1 and Bernardo Barahona-Corrêa1-4

1Hospital de Egas Moniz – Departamento de Psiquiatria e Saúde Mental, Portugal

2Departamento de Psiquiatria e Saúde Mental- Nova Medical School, Portugal

3Champalimaud Center for the Unknown, Portugal

4CADIn - Centro de Apoio ao Desenvolvimento Infantil, Portugal

*Corresponding Author:
Maria Emília Pereira
Psychiatric resident
Centro Hospitalar de Lisboa Ocidental
Mental Health and Psychiatry
Rua da Junqueira, 126
Lisbon, 1349-019 Lisboa, Portugal
Tel: +351935949712
E-mail: [email protected]

Received date: January 22, 2016; Accepted date:February 17, 2016; Published date: February 24, 2016

Citation: Pereira ME, Silva RC, Velosa A, Barahona-Corrêa B (2016) 4q- Deletion Syndrome: Psychiatric Symptoms in a Rare Chromosomal Disorder. J Genet Syndr Gene Ther 7:288. doi:10.4172/2157-7412.1000288

Copyright: © 2016 Pereira ME, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

We present the case of an 18-year-old man with the karyotype 46, XY, del (4) (q21.1q21.3), and describe in detail the clinical findings, with emphasis on the psychiatric symptoms and their management. 4q- syndrome comprises all deletions of the long arm of chromosome 4. It consists of facial and digital dysmorphisms, skeletal and cardiac defects, growth retardation and learning difficulties. Our report contributes to the understanding of the natural history and management of this rare chromosomal disorder.

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