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Maternal heterodisomy 15 in our proband with PWS was observed at 15q11.1–12.2 (the most distal informative marker was GABRB3), while analysis of markers mapping to more distal segments of the ...
UPD may involve two copies of the same chromosome (isodisomy) or one copy from the contributing parent's chromosome pair (heterodisomy). Our results suggest mat UPD17 with heterodisomy of 17q and ...