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

ConclusionA 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.

Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding, and its clinical relevance is currently unclear. We report on two new cases and delineate the pathogenetic significance of upd(6)mat from these cases and those from the literature.

Source: Molecular Genetics & Genomic Medicine - September 1, 2017 Category: Genetics & Stem Cells Authors: Thomas Eggermann, Barbara Oehl ‐Jaschkowitz, Severin Dicks, Wolfgang Thomas, Deniz Kanber, Beate Albrecht, Matthias Begemann, Ingo Kurth, Jasmin Beygo, Karin Buiting Tags: Original Article Source Type: research