Citation
K. Buiting et al., A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp, HUM GENET, 105(6), 1999, pp. 665-666
Citations number
5
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717
→ ACNP
Volume
105
Issue
6
Year of publication
1999
Pages
665 - 666
Database
ISI
SICI code
0340-6717(199912)105:6<665:A5ICDI>2.0.ZU;2-M
Abstract
Imprinting on human chromosome 15q11-q13 is controlled by a bipartite impri
nting center (TC) that maps to the SNRPN locus. Deletions of the IC result
in an imprinting defect and Prader-Willi syndrome or Angel-man syndrome (AS
). We have now identified a 5-kb IC deletion in an English AS patient (AS-L
O); this represents the smallest microdeletion found in AS and narrows down
the shortest region of deletion overlap to 880 bp.