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The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

Eggermann ThomasBarbara Oehl-JaschkowitzSeverin DicksWolfgang ThomasDeniz KanberBeate AlbrechtMatthias BegemannIngo KurthJasmin BeygoKarin Buiting
Published in: Molecular genetics & genomic medicine (2017)
A common upd(6)mat phenotype is not obvious, but placental dysfunction due to trisomy 6 mosaicism probably contributes to IUGR and preterm delivery. In fact, other clinical features observed in upd(6)mat patients might be caused by homozygosity of recessive mutations or by an undetected trisomy 6 cell line. Upd(6)mat itself is not associated with clinical features, and can rather be regarded as a biomarker. In case upd(6)mat is detected, the cause for the phenotype is identified indirectly, but the UPD is not the basic cause.
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