Genetic investigation in a patient with Angelman Syndrome using MLPA and array CGH techniques

Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 (15q11-q13) is deleted. Characteristic features 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، MLPA and array CGH. The karyotype was normal، while both MLPA and array CGH revealed a deletion of 15q11-13 region.