Article
Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.
Prenatal diagnosis - 1 Dec 2006
Turchetti Daniela, Razzaboni Elisabetta, Zomer Hila, Rossi Cesare, Ferrari Simona, Greco Donatella, Graziano Claudio, Romeo Giovanni, Seri Marco
Abstract excerpt
Angelman Syndrome (AS), characterized by mental retardation, absence of speech, seizures and motor dysfunction, is caused by genetic defects leading to loss of expression of the maternal copy of the chromosome 15q11-13 imprinted region. Most cases are sporadic, being caused by de novo deletion of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.