1 / شمـاره . سـال دهمـزاره سـوم ژنتیک در ه2684 Angelman syndrome is a complex genetic disorder that primarily afects the nerv- ous system. Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15(15q11-q13) is deleted. Characteristic fea- tures of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). In this report, an 8 year old boy with intellectual disability, convulsion, bursting laughter and motor impairment is presented. The patient was investigated using karyotyping, Multiplex Ligation dependent Probe Ampliication (MLPA) and array Comparative Genomic Hybridization (aCGH). The karyotype was normal, while both MLPA and array CGH revealed a deletion of 15q11-13 region. Key words: Angelman Syndrome; karyotype; MLPA; Comparative Genomic Hybridization. Genetic Investigation in a Patient with Angelman Syndrome using MLPA and array CGH Techniques Behrouz Ebrahimizadeh, Yousef Shafeghati, Navid Almadani, Roshanak Vameghi, Firouzeh Sajedi, Saghar Ghasemi Firouzabadi, Hossein Najmabadi, Roxana Kariminejad, Farkhondeh Behjati. ABSTRACT Farkhondeh Behjati, PhD Genetic Research Center, University of Social welfare and Rehabilitation Sciences, Tehran, Iran. Email: fbehjati@gmail.com Submission Date: 21. Feb. 2012 Acceptance Date: 4. May. 2012 * *