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. 2019 Jun;1(1):1-5.
doi: 10.3892/br.2019.1210. Epub 2019 May 13.

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

Sandro Orru  1 , Ioannis Papoulidis  2 , Elisavet Siomou  2 , Dimitrios T Papadimitriou  3   4 , Sotirios Sotiriou  4 , Petros Nikolaidis  5 , Makarios Eleftheriades  6 , Evaggelos Papanikolaou  7 , Loretta Thomaidis  8 , Emmanouil Manolakos  1   2   8
Affiliations

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

Sandro Orru et al. Biomed Rep. 2019 Jun.

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.

Keywords: 21q22.3; anxiety; autism spectrum disorder; depression.

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Figures

Figure 1.
Figure 1.
Molecular karyotype of chromosome 21 recorded for the 10-year-old male patient. A high-resolution microarray comparative genomic hybridization analysis was performed. The physiological value of the signal ratio is 0, with variations describing abnormal genotypes (signal ratio +0.5, duplication; signal ratio -1, deletion).
See this image and copyright information in PMC

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