{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:09:02Z","timestamp":1779930542601,"version":"3.53.1"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T00:00:00Z","timestamp":1690761600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["EG 115\/13\u20101"],"award-info":[{"award-number":["EG 115\/13\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Beckwith\u2010Wiedemann syndrome and Silver\u2010Russel syndrome are two imprinting disorders caused by opposite molecular alterations in 11p15.5. With the current diagnostic tests, their molecular diagnosis is challenging due to molecular heterogeneity and mosaic occurrence of the most frequent alterations. As the determination of precise (epi)genotype of patients is relevant as the basis for a personalized treatment, different approaches are needed to increase the sensitivity of diagnostic testing of imprinting disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We established methylation\u2010specific droplet digital PCR approaches (MS\u2010ddPCR) for the two imprinting centers in 11p15.5, and analyzed patients with paternal uniparental disomy of chromosome 11p15.5 (upd(11)pat) and other imprinting defects in the region. The results were compared to those from MS\u2010MLPA (multiplex ligation\u2010dependent probe amplification) and MS\u2010pyrosequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>MS\u2010ddPCR confirmed the molecular alterations in all patients and the results matched well with MS\u2010MLPA. The results of MS\u2010pyrosequencing varied between different runs, whereas MS\u2010ddPCR results were reproducible.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We show for the first time that MS\u2010ddPCR is a reliable and easy applicable method for determination of MS\u2010associated changes in imprinting disorders. It is therefore an additional tool for multimethod diagnostics of imprinting disorders suitable to improve the diagnostic yield.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2264","type":"journal-article","created":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T07:49:29Z","timestamp":1690789769000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["First\u2010time application of droplet digital <scp>PCR<\/scp> for methylation testing of the 11p15.5 imprinting regions"],"prefix":"10.1002","volume":"11","author":[{"given":"Elia","family":"Schlaich","sequence":"first","affiliation":[{"name":"Institute for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter H. 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