İncecik, Faruk Çukurova University - Faculty of Medicine - Department of Pediatrics, Pediatric Neurology, Turkey , Hergüner, M. Özlem Çukurova University - Faculty of Medicine - Department of Pediatrics, Pediatric Neurology, Turkey , Mert, Gülen Çukurova University - Faculty of Medicine - Department of Pediatrics, Pediatric Neurology, Turkey , Altunbaşak, Şakir Çukurova University - Faculty of Medicine - Department of Pediatrics, Pediatric Neurology, Turkey

Trisomy 9 Mosaicism Presenting with Epilepsy, and Facial Dysmorphism: A Case Report

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Trisomy 9 syndrome is a rare genetic disorder. Trisomy 9 has two forms; 1) mosaic, 2) non-mosaic. The patients usually present similar clinical features, independent of the presence of mosaicism, characterized by growth retardation, mental deficiency and brain, facial, cardiac, renal and skeletal abnormalities. Developmental delay and mental retardation are the most common neurological symptom in trisomy 9 mosaicism in our knowledge. Epilepsy associated with this syndrome has not found in literature. We describe a 10-year-old boy with trisomy 9 mosaicism who presented seizures, and dysmorfic features.

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Trisomy 9 mosaicism , Developmental delay , Epilepsy , Children

Cukurova Medical Journal

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