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Mosaic trisomy r(14) associated with epilepsy and mental retardation |
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| Authors: | Tzoufi Meropi Kanioglou Chrisanthi Dasoula Aggeliki Asproudis Ioannis Tsatsoulis Agathoklis Sismani Carolina Patsalis Philippos C Georgiou Ioannis Syrrou Maria |
| Affiliation: | Department of Pediatrics, Medical School, University of Ioannina, 45500 Ioannina, Greece. |
| Abstract: | We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome. |
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