John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome Volume 20, issue 3, June 2018

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Authors
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
* Correspondence: Özdem Ertürk Çetin Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University, Fatih, Istanbul, Turkey
  • Key words: chromosome 14q duplication, West syndrome, epileptic spasms, neurodevelopmental encephalopathy, FOXG1-related disorders
  • DOI : 10.1684/epd.2018.0972
  • Page(s) : 219-24
  • Published in: 2018

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.