Media type: E-Article Title: Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation Contributor: Begemann, Matthias; Spengler, Sabrina; Kordaß, Ulrike; Schröder, Carmen; Eggermann, Thomas imprint: Wiley, 2012 Published in: American Journal of Medical Genetics Part A Language: English DOI: 10.1002/ajmg.a.34412 ISSN: 1552-4825; 1552-4833 Keywords: Genetics (clinical) ; Genetics Origination: Footnote: Description: <jats:title>Abstract</jats:title><jats:p>Aberrant methylation at different imprinted loci has been reported for several congenital imprinting disorders, that is, Silver–Russell syndrome (SRS), but the coincidental occurrence of aberrant methylation and uniparental disomy (UPD) has not yet been described. We report on a patient initially diagnosed with SRS carrying a segmental maternal UPD of chromosome 7 [upd(7q)mat]. By further screening the patient's DNA for methylation defects on other chromosomes we identified a hypomethylation of the paternally methylated <jats:italic>DLK1/GTL2</jats:italic> locus in 14q32, an epigenotype typically associated with the upd(14)mat phenotype. Detailed clinical analysis confirmed the molecular finding in the patient indicating that the 14q32 epimutation was clinically preponderant. The parallel occurrence of upd(7q)mat and a <jats:italic>DLK1/GTL2</jats:italic> hypomethylation in the same patient is a unique finding. Indeed, both disturbances might have occurred coincidentally, but it can also be hypothesized that the upd(7q)mat as the initial genomic mutation represents a trans‐acting mutation causing an aberrant methylation in 14q32. © 2012 Wiley Periodicals, Inc.</jats:p>