doi:10.1684/epd.2018.0972 Epileptic Disord, Vol. 20, No. 3, June 2018 219 Correspondence: Özdem Ertürk C ¸ etin Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University, Fatih, Istanbul, Turkey <ozdemerturk@yahoo.com> Clinical commentary Epileptic Disord 2018; 20 (3): 219-24 Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome Özdem Ertürk C ¸ etin 1 , Cengiz Yalc ¸ ınkaya 1 , Birsen Karaman 2 , Veysi Demirbilek 1 , Beyhan Tüysüz 3 1 Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University, 2 Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 3 Department of Pediatric Genetics, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey Received December 29, 2017; Accepted March 08, 2018 ABSTRACT – Proximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmen- tal delay, dysmorphic craniofacial features, epilepsy, and severe speech delay. Here, we report a patient with West syndrome whose chromosome analysis revealed 14q11.2-21.1 duplication. The patient was admitted due to infantile epileptic spasms at eight months of age, motor developmen- tal delay, and dysmorphic features. Chromosome and array-CGH analysis revealed de novo 14q11.2-21.1 duplication, spanning ∼20 Mb (minimal inter- val chr14:20203610_40396835). The patient was followed up to 13 years of age, and at the last examination was shown to have severe speech delay, seizures, and continuous spike-and-wave activity on EEG. The possibility of this chromosomal abnormality should be kept in mind in patients with developmental delay, epilepsy, and hypsarrtyhmia, in the absence of any structural brain lesion or metabolic aetiology. Key words: chromosome 14q duplication, West syndrome, epileptic spasms, neurodevelopmental encephalopathy, FOXG1-related disorders Proximal duplication of chromo- some 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by develop- mental delay, dysmorphic craniofa- cial features, epilepsy, and speech delay (Brunetti-Pierri et al., 2011; Pontrelli et al., 2014). Depending on the size of the duplication and the included genes within the region, clinical features may vary between patients. Here, we report a patient with a de novo 14q11.2- 21.1 chromosome duplication who had a dysmorphic face, epilepsy, and speech and developmental delay. The aim of this report is to provide additional data in order to define the clinical characteristics of epilepsy associated with 14q duplication. Case study The patient was a female born at the 39 th week of gestation follow- ing an uneventful pregnancy with normal spontaneous delivery. There was no consanguinity between the parents, and family history was unre- markable. The patient’s birth weight