title: Autism in two females with duplications involving Xp11.22-p11.23.
abstract: We present two phenotypically similar females with Xp duplication who have autism and epilepsy. Case 1 is a 14-year-old Honduran female with autism and medically refractory complex partial, secondarily generalized epilepsy. Case 2 is a 3-year-old Austrian female with autism and medically refractory complex partial epilepsy. Both patients also share features of severe intellectual disability (case 1 has a developmental quotient of 23, case 2 has a developmental quotient of 42) and dysmorphic facial features. Autism was confirmed by thorough clinical evaluations and testing. Case 1 has a karyotype of 46,X,dup(X)(p11.2-p22.33) and a highly skewed X-inactivation pattern (94:6). Brain magnetic resonance imaging (MRI) and electroencephalogram (EEG) were abnormal. Case 2 has a 5-megabase duplication of Xp11.22-p11.23 on chromosome microarray analysis. The patient has a random X-inactivation pattern (77:23). Brain MRI was normal, but EEG was abnormal. Both patients have duplications involving the Xp11.22-p11.23 region, indicating that this is an area of interest for future translational autism research.
authors.affiliation: College of Medicine, Medical University of South Carolina, Charleston, SC, USA. edens@musc.edu
authors.forename: Anna C
authors.initials: AC
authors.lastname: Edens
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Lyons
authors.forename: Reyna M
authors.initials: RM
authors.lastname: Duron
authors.forename: Barbara R
authors.initials: BR
authors.lastname: Dupont
authors.forename: Kenton R
authors.initials: KR
authors.lastname: Holden
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D020440:Gene Duplication / Q000235:genetics*; D006801:Humans