27
Aug
Clinical characterization of individuals with the distal 1q21.1 microdeletion
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Clinical characterization of individuals with the distal 1q21.1 microdeletion is described in this summary. Deletions of the 1q21.1 segment may be subdivided into two groups: proximal (located in the interval of 144.9-146.2 Mb) and distal (~146.4-148.8 Mb). Proximal del 1q21.1 in the presence of modifying variant in RBM8A leads to... Read More
27
Aug
Neuropsychiatric problems and chromosome disorders
Psychiatric symptoms found in some patients with chromosome disorders. There is no doubt that genetic factors play a significant role in the origin of schizophrenia and other neuropsychiatric disorders. At the same time, only a few genes are implicated as major factors for the development of these conditions. The authors... Read More