Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report

  • Authors:
    • Sandro Orru
    • Ioannis Papoulidis
    • Elisavet Siomou
    • Dimitrios T. Papadimitriou
    • Sotirios Sotiriou
    • Petros Nikolaidis
    • Makarios Eleftheriades
    • Evaggelos Papanikolaou
    • Loretta Thomaidis
    • Emmanouil Manolakos
  • View Affiliations

  • Published online on: May 13, 2019     https://doi.org/10.3892/br.2019.1210
  • Pages: 354-358
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, anxiety and depression were observed clinical characteristics. Mentioned copy number variants were the shortest in length reported so far. The current study hypothesized that the presence of a susceptibility locus for autism spectrum disorder associated with depression and anxiety may be located in a 200 kb region between the PCNT and PRMT2 genes. The current study aimed to provide insight into the human genome morbidity map of chromosome 21.

Related Articles

Journal Cover

June 2019
Volume 10 Issue 6

Print ISSN: 2049-9434
Online ISSN:2049-9442

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
APA
Orru, S., Papoulidis, I., Siomou, E., Papadimitriou, D.T., Sotiriou, S., Nikolaidis, P. ... Manolakos, E. (2019). Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report. Biomedical Reports, 10, 354-358. https://doi.org/10.3892/br.2019.1210
MLA
Orru, S., Papoulidis, I., Siomou, E., Papadimitriou, D. T., Sotiriou, S., Nikolaidis, P., Eleftheriades, M., Papanikolaou, E., Thomaidis, L., Manolakos, E."Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report". Biomedical Reports 10.6 (2019): 354-358.
Chicago
Orru, S., Papoulidis, I., Siomou, E., Papadimitriou, D. T., Sotiriou, S., Nikolaidis, P., Eleftheriades, M., Papanikolaou, E., Thomaidis, L., Manolakos, E."Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report". Biomedical Reports 10, no. 6 (2019): 354-358. https://doi.org/10.3892/br.2019.1210