Angelman syndrome is a neurodevelopmental disorder caused by one of several genetic mechanisms involving maternal chromosome 15, specifically the region 15q11.2-13 (Dagli et al. 2015). Common features include microcephaly, seizure disorder, impaired motor skills, and developmental delays. Absent or extremely limited expressive language skills are also commonly observed. Behaviorally, individuals with Angelman syndrome are known for a happy temperament, frequent laughter, inattention/hyperactivity, and stereotyped behaviors; these features have been identified as the most consistent features within this population (Clayton-Smith and Laan 2003).
Deletion or mutation of genetic material on chromosome 15q11-13 can result in one of two distinct neurodevelopmental disorders, depending upon whether the genetic material is from the maternal or paternal chromosome. This parent of origin effect is known as “imprinting.” Note that the 15q11-13 region is differently...
References and Readings
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