A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

Hum Genet. 1999 Dec;105(6):665-6. doi: 10.1007/s004399900196.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angelman Syndrome / genetics*
  • Base Sequence
  • Blotting, Southern
  • Centromere
  • Chromosome Breakage
  • Chromosomes, Human, Pair 15 / genetics*
  • Gene Deletion*
  • Genomic Imprinting*
  • Humans
  • Molecular Sequence Data
  • Physical Chromosome Mapping