Article
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.
BMC medical genetics - 6 May 2005
Schüle Birgitt, Albalwi Mohammed, Northrop Emma, Francis David I, Rowell Margaret, Slater Howard R, Gardner R J McKinlay, Francke Uta
Abstract excerpt
BACKGROUND: Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparental disomy or mutations involving the imprinting center. De novo balanced reciprocal translocations in 5 reported individuals had breakpoints clustering in SNRPN intron 2 or...
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