Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13
- 1 May 1999
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 52 (8) , 1694
- https://doi.org/10.1212/wnl.52.8.1694
Abstract
Article 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.Keywords
This publication has 7 references indexed in Scilit:
- Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 MarkersAmerican Journal of Human Genetics, 1998
- Autism and maternally derived aberrations of chromosome 15qAmerican Journal of Medical Genetics, 1998
- A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism ConsortiumHuman Molecular Genetics, 1998
- The mechanisms involved in formation of deletions and duplications of 15q11-q13.Journal of Medical Genetics, 1998
- Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype CorrelationsAmerican Journal of Human Genetics, 1997
- Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disordersJournal of Autism and Developmental Disorders, 1994
- Austism diagnostic observation schedule: A standardized observation of communicative and social behaviorJournal of Autism and Developmental Disorders, 1989