Angelman syndrome is a genetic disorder due to lack of function of part of chromosome 15 inherited from the mother or deletion of the UBE3A gene. Angelman syndrome may result in intellectual disability, movement abnormalities, and seizures.
What is Angelman Syndrome?
Available family members. A) Pedigree of the proband and her family; B) Proband (III-1) with telecanthus, bilateral epicanthal folds, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs. Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization. Yokoyama-Rebollar E, Ruiz-Herrera A, Lieberman-Hernández E, Del Castillo-Ruiz V, Sánchez-Sandoval S, Ávila-Flores SM, Castrillo JL - Molecular cytogenetics (2015). Not Altered. CC.
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