| Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication. | |
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MedLine Citation:
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PMID: 19396834 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The 4 Mb 15q11-q13 region is prone to structural rearrangements. Deletions have been identified among the leading causes for genetic diseases such as the Prader-Willi and Angelman syndromes, while duplications, occurring preferentially on the maternal chromosome, produce a typical phenotype that includes mental retardation, language delay, seizures and autism. Although a number of such patients have been reported, however, there is a paucity of information about their clinical outcomes in adult age. We report on a 33-year-old female with a microduplication of 15q11-q13 detected by array-CGH analysis, with particular reference to the epilepsy phenotype, characterized as a late-onset Lennox-Gastaut syndrome. |
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Authors:
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Alfredo Orrico; Marcella Zollino; Lucia Galli; Sabrina Buoni; Giuseppe Marangi; Vincenzo Sorrentino |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-05-04 Completed Date: 2009-06-18 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1033-5 Citation Subset: IM |
Affiliation:
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Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy. a.orrico@ao-siena.toscana.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Age of Onset Autistic Disorder / genetics* Chromosomes, Human, Pair 15 / genetics* Comparative Genomic Hybridization Female Gene Duplication Humans Language Development Disorders / genetics* Mental Retardation / genetics* Oligonucleotide Array Sequence Analysis Seizures / genetics* Syndrome |
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