Autism in Two Females with Duplications Involving Xp11.22-p11.23

Autor/inn/en	Edens, Anna C.; Lyons, Michael J.; Duron, Reyna M.; DuPont, Barbara R.; Holden, Kenton R.
Titel	Autism in Two Females with Duplications Involving Xp11.22-p11.23
Quelle	In: Developmental Medicine & Child Neurology, 53 (2011) 5, S.463-466 (4 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0012-1622
DOI	10.1111/j.1469-8749.2010.03909.x
Schlagwörter	Epilepsy; Females; Patients; Autism; Brain; Genetic Disorders; Seizures; Severe Mental Retardation; Diagnostic Tests + Suchen Sie Ihr Suchwort? Epilepsie; Weibliches Geschlecht; Patient; Autismus; Gehirn; Anfallsleiden; Diagnostic test; Diagnostischer Test
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. (As Provided).
Anmerkungen	Wiley-Blackwell. 350 Main Street, Malden, MA 02148. Tel: 800-835-6770; Tel: 781-388-8598; Fax: 781-388-8232; e-mail: cs-journals@wiley.com; Web site: http://www.wiley.com/WileyCDA/
Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10