title: Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.
abstract: Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders, novel pathologic chromosomal abnormalities are being identified. We report the case of a 9-year-old girl with a history of pervasive developmental disorder, growth delay, mild dysmorphic features, and intractable primary generalized epilepsy with a de novo microdeletion of approximately 0.73-0.94 Mb within chromosome 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in a 30-month-old child with similar phenotype including intractable myoclonic epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered to be idiopathic.
authors: Department of Pediatric Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors: Radhika
authors: R
authors: Dhamija
authors: Galen
authors: G
authors: Breningstall
authors: Lily
authors: L
authors: Wong-Kisiel
authors: Michelle
authors: M
authors: Dolan
authors: Betsy
authors: B
authors: Hirsch
authors: Elaine
authors: E
authors: Wirrell
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D035683:MicroRNAs / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D035683:MicroRNAs