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Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication
Author(s) -
Orrico Alfredo,
Zollino Marcella,
Galli Lucia,
Buoni Sabrina,
Marangi Giuseppe,
Sorrentino Vincenzo
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32785
Subject(s) - angelman syndrome , gene duplication , lennox–gastaut syndrome , epilepsy , phenotype , pediatrics , autism , copy number variation , medicine , genetics , biology , gene , psychiatry , genome
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. © 2009 Wiley‐Liss, Inc.