Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior

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Abstract

This article describes a 19-year-old female with mild facial dysmorphism, asociality, decreased school performance, and psychotic behavior in whom the karyotype showed an extra-chromosomal marker characterized as 9p24.3-9q21.11 duplication by array-CGH. The 69. Mbp duplicated segment in this patient includes the critical 9p duplication syndrome region, the GLDC and C90RF72 genes associated with psychotic behavior and other conduct disorders, and a potential locus for autism.

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Martínez-Jacobo, L., Ortíz-López, R., Rizo-Méndez, A., García-Molina, V., Santuario-Facio, S. K., Rivas, F., & Rojas-Martínez, A. (2015). Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior. Gene, 560(1), 124–127. https://doi.org/10.1016/j.gene.2015.02.010

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