Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior
| Autor: | Viridiana García-Molina, Augusto Rojas-Martinez, Fernando Rivas, Rocio Ortiz-Lopez, Lizeth Martínez-Jacobo, SK Santuario-Facio, Alfredo Rizo-Méndez |
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| Rok vydání: | 2014 |
| Předmět: |
Genetics
Psychosis Comparative Genomic Hybridization Asociality Locus (genetics) Karyotype Trisomy General Medicine Biology medicine.disease Bioinformatics Young Adult Psychotic Disorders 9p duplication syndrome Karyotyping Gene duplication Chromosome Duplication medicine Autism Humans Female Chromosomes Human Pair 9 Gene |
| Zdroj: | Gene. 560(1) |
| ISSN: | 1879-0038 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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