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Description:
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Mosaic maternal UPD of chromosome 11 has been detected in two children with Silver-Russell syndrome (SRS) (Bullman
H et al, 2008; Luk HM et al 2016).
Paternal UPD is one of the causative chromosomal events associated with Beckwith-Wiedemann syndrome (BWS).
See individual entries for 11p.
BWS associated UPD is usually partial in that it involves only a
portion of 11p (this always includes 11p15.5), and it is always mosaic; that is, affected
individuals always show a mixture of normal cells (biparental disomy) and UPD cells (Cooper
WN et al, 2007).
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