title: A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp.
abstract: Imprinting on human chromosome 15q11-q13 is controlled by a bipartite imprinting center (IC) that maps to the SNRPN locus. Deletions of the IC result in an imprinting defect and Prader-Willi syndrome or Angelman syndrome (AS). We have now identified a 5-kb IC deletion in an English AS patient (AS-LO); this represents the smallest microdeletion found in AS and narrows down the shortest region of deletion overlap to 880 bp.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Germany. karin.buiting@uni-essen.de
authors.forename: K
authors.initials: K
authors.lastname: Buiting
authors.forename: C
authors.initials: C
authors.lastname: Lich
authors.forename: S
authors.initials: S
authors.lastname: Cottrell
authors.forename: A
authors.initials: A
authors.lastname: Barnicoat
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D002503:Centromere; D019457:Chromosome Breakage; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D017353:Gene Deletion; D018392:Genomic Imprinting; D006801:Humans; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping