title: Partial epilepsy and 47,XXX karyotype: report of four cases.
abstract: Epilepsy is a common finding in chromosomal imbalances, but only a few chromosome abnormalities have a characteristic electro-clinical pattern. Trisomy X is one of the most common sex chromosome abnormalities in females, and is associated with considerable phenotypic variability. This report describes four 47,XXX females with mental deficiency and epilepsy. Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association 47,XXX/epilepsy/mental retardation may not be coincidental. This report also enlarges the clinical spectrum of the 47,XXX phenotype. Moreover, these observations highlight the critical role of chromosome X in epilepsy and mental retardation.
authors.affiliation: Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France. a-roubertie@chu-montpellier.fr
authors.forename: Agathe
authors.initials: A
authors.lastname: Roubertie
authors.forename: Véronique
authors.initials: V
authors.lastname: Humbertclaude
authors.forename: Julie
authors.initials: J
authors.lastname: Leydet
authors.forename: Geneviève
authors.initials: G
authors.lastname: Lefort
authors.forename: Bernard
authors.initials: B
authors.lastname: Echenne
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics*; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*