Chromosome 14q11.2‐q21.1 duplication: a rare cause of West syndrome |
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| Authors: | Özdem Ertürk Çetin Cengiz Yalç?nkaya Birsen Karaman Veysi Demirbilek Beyhan Tüysüz |
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| Affiliation: | 1. Department of Neurology, Cerrahpasa Faculty of MedicineIstanbul University;2. Department of Medical Genetics, Istanbul Faculty of MedicineIstanbul University;3. Department of Pediatric Genetics, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey |
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| Abstract: | Proximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmental 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 developmental delay, and dysmorphic features. Chromosome and array‐CGH analysis revealed de novo 14q11.2‐21.1 duplication, spanning ～20 Mb (minimal interval 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. |
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| Keywords: | chromosome 14q duplication West syndrome epileptic spasms neurodevelopmental encephalopathy FOXG1‐related disorders |
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