{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T19:48:00Z","timestamp":1774900080116,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin\u20102 (<jats:italic>PKD2<\/jats:italic>) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains 3 (<jats:italic>SHANK3<\/jats:italic>), indicative of Phelan\u2010McDermid syndrome. Further analysis via traditional karyotyping, Optical Genome Mapping (OGM), and PacBio long\u2010read sequencing revealed a more complex landscape of chromosomal rearrangements in this individual, including a balanced 3;12 translocation, and an unbalanced 17;22 translocation. The proband's phenotypic presentation is thought to be the result of Phelan\u2010McDermid syndrome and represents an expansion of the described phenotypes to include significant respiratory failure. This study underscores the challenges and importance of comprehensive genetic testing in elucidating complex presentations and highlights the need for complementary testing methods to overcome limitations in resolution.<\/jats:p>","DOI":"10.1002\/ajmg.a.63929","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T12:34:09Z","timestamp":1731501249000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Optical Genome Mapping (<scp>OGM<\/scp>) Identifies Multiple Structural Variants in a Case With Atypical Phelan\u2010<scp>McDermid<\/scp> Syndrome"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8324-506X","authenticated-orcid":false,"given":"Erica L.","family":"Macke","sequence":"first","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony R.","family":"Miller","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caitlyn M.","family":"Colwell","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Hernandez","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesse","family":"Hunter","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics, College of Medicine The Ohio State University  Columbus Ohio USA"},{"name":"Department of Pathology The Ohio State University  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lakshmi Prakruthi Rao","family":"Venkata","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Walker","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory","family":"Wheeler","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard K.","family":"Wilson","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics, College of Medicine The Ohio State University  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine R.","family":"Mardis","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics, College of Medicine The Ohio State University  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine E.","family":"Miller","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics, College of Medicine The Ohio State University  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariam T.","family":"Mathew","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics, College of Medicine The Ohio State University  Columbus Ohio USA"},{"name":"Department of Pathology The Ohio State University  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bimal P.","family":"Chaudhari","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics, College of Medicine The Ohio State University  Columbus Ohio USA"},{"name":"Division of Neonatology Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yassmine","family":"Akkari","sequence":"additional","affiliation":[{"name":"The Steve and Cindy Rasmussen Institute for Genomic Medicine The Abigail Wexner Research Institute at Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pathology The Ohio State University  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,13]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-018-0047-y"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-021-09370-5"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2017.01.046"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-018-0205-9"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2016.12.008"},{"key":"e_1_2_11_7_1","unstructured":"Harris P. 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