A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
K Buiting, C Lich, S Cottrell, A Barnicoat, B Horsthemke - Human genetics, 1999 - Springer
K Buiting, C Lich, S Cottrell, A Barnicoat, B Horsthemke
Human genetics, 1999•SpringerImprinting 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.
(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.
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.
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