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The phenotype of paternal UPD6 results from biallelic expression of the maternally imprinted, paternally expressed <jats:italic>ZAC<\/jats:italic> and <jats:italic>HYMAI<\/jats:italic> genes, and includes transient neonatal diabetes mellitus (TNDM), intra\u2010uterine growth restriction (IUGR), macroglossia, and minor anomalies. Trisomy rescue has been proposed as a pathogenic mechanism leading to UPD of other chromosomes. We report on the first case of a prenatally diagnosed infant with UPD6 and describe the clinical, cytogenetic, molecular, and novel placental findings in a female infant with paternal UPD6. Low\u2010level trisomy 6 and paternal UPD6 were prenatally diagnosed through amniocentesis. After birth trisomy 6 was documented in the placenta but was not found in three different cell lines from the infant. The placenta was small with a peculiar pattern of vascular proliferation. Our results of trisomy 6 cells predominantly present in the placenta and only in low levels in the amniotic fluid suggest that the distribution and proportion of trisomic and diploid UPD cells contribute to the variability of fetal and placental phenotypes. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34106","type":"journal-article","created":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T20:00:43Z","timestamp":1310068843000},"page":"1996-2002","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings"],"prefix":"10.1002","volume":"155","author":[{"given":"Mariana 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