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.

Orrico, A., Zollino, M., Galli, L., Buoni, S., Marangi, G., Sorrentino, V. (2009). Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 149A(5), 1033-1035 [10.1002/ajmg.a.32785].

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication

Orrico, A.;Galli, L.;Buoni, S.;Sorrentino, V.
2009-01-01

Abstract

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.
Orrico, A., Zollino, M., Galli, L., Buoni, S., Marangi, G., Sorrentino, V. (2009). Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 149A(5), 1033-1035 [10.1002/ajmg.a.32785].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/20670
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