Özet:

Subject: Neuro-development retardation is to provide the genetic and clinical characteristics of our patients carrying the Angelman syndrome clinic, which is addressed to our clinic due to epilepsy. The data of the patients we diagnosed with Angelman/Prader-Willi syndrome are retrospective. The findings: Microsphaly, continuous laughter attacks,hypotonicity,two girls with developmental retardation, three male patients with fluorescent in situ hybridization (FISH) studies resulted in a 15q11-q13 division. Their age was 1-4 years old. There were three epilepsy patients. Electroencephalographs (EEG) identified soil activity disorder and epileptic activity consisting of wave waves. They were controlled with antiepileptics. While speaking disorder is present in all patients,the common dismorphic discovery was wide mouth, then frontal bossing, wide range of teeth, and nasal root pressure, respectively. Prader-Willi diagnosed with nazogastric (NG) in the 1 year old male patient had an anthematic polihidramniosis and an immune testicular surgery history.A patient with frequent infection was diagnosed with immune insufficiency, receiving intravenous immunglobulin (IVIG) treatment. In a patient's cranial image, a terminal zone, a patient's corpuscallosum thinness was detected. Other patients were normalized. The vision and hearing are not observed. All of our patients receive physical therapy and speech therapy. Result: Angelman syndrome (AS) is a rare genetic disease caused by delusion, uniparentalismia, imprint defect or UBE3A gen defect, which contains the locus 15q11-q13. 15q11q13 area division is responsible for approximately 70% of the AS. The affected people have severe mental retardation, motor development retardation, speech disorder, characteristic face appearance. 15q11-q13 divisional chromosome forms Prader-Willi syndrome when it is inherited from the mother, AS when it is inherited from the father Key words: Angelman syndrome; happy doll syndrome; maternal inheritance