Autism in two females with duplications involving Xp11.22-p11.23.

Dev Med Child Neurol 2011 May 21;53(5):463-6. Epub 2011 Mar 21.

College of Medicine, Medical University of South Carolina, Charleston, SC, USA.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2010.03909.xDOI Listing
May 2011
2 Reads

Publication Analysis

Top Keywords

epilepsy case
8
involving xp1122-p1123
8
complex partial
8
case developmental
8
developmental quotient
8
refractory complex
8
female autism
8
medically refractory
8
eeg abnormal
8
x-inactivation pattern
8
autism medically
8
duplications involving
8
case
6
autism
6
features autism
4
patients duplications
4
dysmorphic facial
4
facial features
4
quotient case
4
xp1122-p1123 region
4

References

(Supplied by CrossRef)

Similar Publications