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Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy
journal contribution
posted on 2023-07-26, 15:04 authored by Antonietta Coppola, Deborah Morrogh, Fiona Farrell, Simona Balestrini, Laura Hernandez-Hernandez, S. Krithika, Josemir W. Sander, Jonathan J. Waters, Sanjay M. SisodiyaChromosomal 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.
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Refereed
- Yes
Volume
9Issue number
1Page range
38-44Publication title
Molecular SyndromologyISSN
1661-8777External DOI
Publisher
Karger PublishersLanguage
- other
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2020-07-30Legacy Faculty/School/Department
ARCHIVED Faculty of Science & Technology (until September 2018)Usage metrics
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