Ontology highlight
ABSTRACT:
SUBMITTER: Cox GF
PROVIDER: S-EPMC384973 | biostudies-literature | 2002 Jul
REPOSITORIES: biostudies-literature
Cox Gerald F GF Bürger Joachim J Lip Va V Mau Ulrike A UA Sperling Karl K Wu Bai-Lin BL Horsthemke Bernhard B
American journal of human genetics 20020508 1
In germ cells and the early embryo, the mammalian genome undergoes widespread epigenetic reprogramming. Animal studies suggest that this process is vulnerable to external factors. We report two children who were conceived by intracytoplasmic sperm injection (ICSI) and who developed Angelman syndrome. Molecular studies, including DNA methylation and microsatellite and quantitative Southern blot analysis, revealed a sporadic imprinting defect in both patients. We discuss the possibility that ICSI ...[more]