Taxon:

Human

Gene:

"UPD"

Chromosome:

11

Location:

Description:

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).

Category:

Disomy (UPD)

Record:

135

Last Modified 1/20/2017

Links:

OMIM (BWS)  


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