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Journal of Child Neurology, Vol. 22, No. 7, 869-873 (2007)
DOI: 10.1177/0883073807304196

Mosaic Trisomy r(14) Associated With Epilepsy and Mental Retardation

Meropi Tzoufi, MD

Department of Pediatrics, Medical School, University of Ioannina, Greece

Chrisanthi Kanioglou, MD

Department of Endocrinology, Medical School, University of Ioannina, Greece

Aggeliki Dasoula, BSc

Cytogenetics Unit, Laboratory of General Biology, Medical School, University of Ioannina, Greece

Ioannis Asproudis, MD

Department of Ophthalmology, Medical School, University of Ioannina, Greece

Agathoklis Tsatsoulis, MD, PhD

Department of Endocrinology, Medical School, University of Ioannina, Greece

Carolina Sismani, PhD

Department of Cytogenetics, Institute of Neurology and Genetics, Cyprus

Philippos C. Patsalis, PhD

Department of Cytogenetics, Institute of Neurology and Genetics, Cyprus

Ioannis Georgiou, PhD

Genetics Unit, Department of Obstetrics and Gynecology, Medical School, University of Ioannina, Greece

Maria Syrrou, PhD

Cytogenetics Unit, Laboratory of General Biology, Medical School, University of Ioannina, Greece, msyrrou{at}cc.uoi.gr

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.

Key Words: r(14) chromosome • mental retardation • epilepsy • diabetes mellitus type 2


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