Article
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
Human molecular genetics - 15 Dec 2001
Weksberg R, Nishikawa J, Caluseriu O, Fei Y L, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray P N, Sadowski P, Squire J
Abstract excerpt
Dysregulation of imprinted genes on human chromosome 11p15 has been implicated in Beckwith-Wiedemann syndrome (BWS), an overgrowth syndrome associated with congenital malformations and tumor predisposition. The molecular basis of BWS is complex and heterogeneous. The syndrome is associated with alterations in two distinct imprinting domains on 11p15: a telomeric domain containing the H19 and IGF2 genes and a...
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