Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy

Coppola, Antonietta and Morrogh, Deborah and Farrell, Fiona and Balestrini, Simona and Hernandez-Hernandez, Laura and Krithika, S. and Sander, Josemir W. and Waters, Jonathan J. and Sisodiya, Sanjay M. (2018) Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy. Molecular Syndromology, 9 (1). pp. 38-44. ISSN 1661-8777

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Official URL: https://doi.org/10.1159/000479949

Abstract

Chromosomal abnormalities are often identified in people with neurodevelopmental disorders including intellectual disability, autism, and epilepsy. Ring chromosomes, which usually involve gene copy number loss, are formed by fusion of subtelomeric or telomeric chromosomal regions. Some ring chromosomes, including ring 14, 17, and 20, are strongly associated with seizure disorders. We report an individual with a ring chromosome 17, r(17)(p13.3q25.3), with a terminal 17q25.3 deletion and no short arm copy number loss, and with a phenotype characterized by intellectual disability and drug-resistant epilepsy, including a propensity for nonconvulsive status epilepticus.

Item Type: Journal Article
Faculty: ARCHIVED Faculty of Science & Technology (until September 2018)
Depositing User: Lisa Blanshard
Date Deposited: 30 Jul 2020 13:44
Last Modified: 30 Jul 2020 14:19
URI: http://arro.anglia.ac.uk/id/eprint/705736

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