Orru Sandro, Papoulidis Ioannis, Siomou Elisavet, Papadimitriou Dimitrios T, Sotiriou Sotirios, Nikolaidis Petros, Eleftheriades Makarios, Papanikolaou Evaggelos, Thomaidis Loretta, Manolakos Emmanouil
Department of Medical Genetics, University of Cagliari, Binaghi Hospital, I-09126 Cagliari, Italy.
ATG P.C., Clinical Laboratory Genetics, Athens 11528, Greece.
Biomed Rep. 2019 Jun;1(1):1-5. doi: 10.3892/br.2019.1210. Epub 2019 May 13.
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 and genes. The current study aimed to provide insight into the human genome morbidity map of chromosome 21.
在本报告中，描述了一名携带21号染色体q22.3区域650 kb缺失和759 kb重复的患者。面部畸形特征、肌张力减退、身材矮小、学习障碍、自闭症谱系障碍、焦虑和抑郁是观察到的临床特征。所述拷贝数变异是迄今为止报道的长度最短的。当前研究推测，与抑郁和焦虑相关的自闭症谱系障碍易感基因座可能位于[具体基因]和[具体基因]之间的200 kb区域。当前研究旨在深入了解21号染色体的人类基因组发病图谱。
