title: Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.
abstract: Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new epilepsy genes. We describe a female patient with intractable focal epilepsy, borderline intellectual functioning, and facial dysmorphisms, in whom genetic study (i.e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq. Although any genetic hypothesis remains speculative, several genes are located in the 4p chromosome segment involved in the rearrangement, some of which may be related to epilepsy.
authors.affiliation: Unit of Neurophysiopathology, Hospital of Perugia, Italy.
authors.forename: Arnaldo
authors.initials: A
authors.lastname: Bartocci
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Maria Margherita
authors.initials: MM
authors.lastname: Mancardi
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.forename: Lucia
authors.initials: L
authors.lastname: Castiglia
authors.forename: Ornella
authors.initials: O
authors.lastname: Galesi
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D041321:Chromosomes, Human, X; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014314:Trisomy / Q000235:genetics*