Angelman syndrome
Chapter: 6
Synonomous with the "happy puppet" syndrome. May have microdeletion of 15q11-12. Deletion is maternal in Angelman syndrome and paternal in Prader-Willi syndrome. These children have severe mental retardation, seizures, no speech, paroxysms of laughter, microcephaly, prognathism, and ocular abnormalities. Important as an example the effects of genomic imprinting