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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Angelman syndrome


Other Names for this Disease

  • AS
  • Happy puppet syndrome (formerly)
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Inheritance

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How might Angelman syndrome be inherited?

Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.[1]

Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.[1]
Last updated: 6/13/2011

References
  1. Angelman syndrome. Genetics Home Reference. July 2009; http://ghr.nlm.nih.gov/condition=angelmansyndrome. Accessed 6/13/2011.


Other Names for this Disease
  • AS
  • Happy puppet syndrome (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.