Duplications of chromosome 15 have been reported in individuals with atypical autism, varying degrees of mental retardation, and epilepsy. The authors report the molecular analysis, neurophysiologic, and clinical evaluation of a 12-year-old boy with atypical autism and epilepsy due to a maternally derived 15q11-q13 duplication. Their findings suggest that this chromosomal region harbors genes for autism and possibly for partial epilepsy that may act in a dose-dependent manner.
Gurrieri, F., Battaglia, A., Torrisi, L., Tancredi, R., Cavallaro, C., Sangiorgi, E., Neri, G., Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13, <<NEUROLOGY>>, 1999; 52 (8): 1694-1697. [doi:10.1212/wnl.52.8.1694] [http://hdl.handle.net/10807/3891]
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13
Gurrieri, Fiorella;Sangiorgi, Eugenio;Neri, Giovanni
1999
Abstract
Duplications of chromosome 15 have been reported in individuals with atypical autism, varying degrees of mental retardation, and epilepsy. The authors report the molecular analysis, neurophysiologic, and clinical evaluation of a 12-year-old boy with atypical autism and epilepsy due to a maternally derived 15q11-q13 duplication. Their findings suggest that this chromosomal region harbors genes for autism and possibly for partial epilepsy that may act in a dose-dependent manner.
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