A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp.
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.
Buiting
K
K
Institut für Humangenetik, Universitätsklinikum Essen, Germany. karin.buiting@uni-essen.de
Lich
C
C
Cottrell
S
S
Barnicoat
A
A
Horsthemke
B
B
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