ERIC Number: EJ929891
Record Type: Journal
Publication Date: 2011-May
Abstractor: As Provided
Reference Count: 0
Autism in Two Females with Duplications Involving Xp11.22-p11.23
Edens, Anna C.; Lyons, Michael J.; Duron, Reyna M.; DuPont, Barbara R.; Holden, Kenton R.
Developmental Medicine & Child Neurology, v53 n5 p463-466 May 2011
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.
Descriptors: Epilepsy, Females, Patients, Autism, Brain, Genetic Disorders, Seizures, Severe Mental Retardation, Diagnostic Tests
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Authoring Institution: N/A