Author/Authors :
Ashrafzadeh، Farah نويسنده , , SADRNABAVI، Arianeh نويسنده Dept. of Human Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran , , AKHONDIAN، Javad نويسنده Department of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran , , BEIRAGHI TOOSI، Mehran نويسنده Department of Pediatric Neurology, Ghaem Medical Center, , Mashhad, Iran , , MOHAMMADI، Mohammadhassan نويسنده Department of Pediatric, School of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran , , Hassanpour، Kazem نويسنده Dept. of Clinical Sciences, Sabzevar University of Medical Sciences, Sabzevar, Iran ,
Abstract :
Abstract
Objective
Angelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism.
Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS.
