{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T01:13:52Z","timestamp":1788484432508,"version":"build-2803163510"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T00:00:00Z","timestamp":1677196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18ek0109301s2201"],"award-info":[{"award-number":["18ek0109301s2201"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Xq chromosome duplication with complex rearrangements is generally acknowledged to be associated with neurodevelopmental disorders, such as Pelizaeus\u2010Merzbacher disease (PMD) and <jats:italic>MECP2<\/jats:italic> duplication syndrome. For couples who required a PGT\u2010M (pre\u2010implantation genetic testing for monogenic disease) for these disorders, junction\u2010specific PCR is useful to directly detect pathogenic variants. Therefore, pre\u2010clinical workup for PGT\u2010M requires the identification of the junction of duplicated segments in PMD and <jats:italic>MECP2<\/jats:italic> duplication syndrome, which is generally difficult.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this report, we used nanopore long\u2010read sequencing targeting the X chromosome using an adaptive sampling method to identify breakpoint junctions in disease\u2010causing triplications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>By long\u2010read sequencing, we successfully identified breakpoint junctions in one PMD case with <jats:italic>PLP1<\/jats:italic> triplication and in another <jats:italic>MECP2<\/jats:italic> triplication case in a single sequencing run. Surprisingly, the duplicated region involving <jats:italic>MECP2<\/jats:italic> was inserted 45\u00a0Mb proximal to the original position. This inserted region was confirmed by FISH analysis. With the help of precise mapping of the pathogenic variant, we successfully re\u2010established STR haplotyping for PGT\u2010M and avoided any potential misinterpretation of the pathogenic allele due to recombination.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Long\u2010read sequencing with adaptive sampling in a PGT\u2010M pre\u2010clinical workup is a beneficial method for identifying junctions of chromosomal complex structural rearrangements.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6334","type":"journal-article","created":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T04:58:48Z","timestamp":1676609928000},"page":"304-313","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Clinical application of long\u2010read nanopore sequencing in a\u00a0preimplantation genetic testing pre\u2010clinical workup to identify the junction for complex Xq chromosome rearrangement\u2010related disease"],"prefix":"10.1002","volume":"43","author":[{"given":"Tasuku","family":"Mariya","sequence":"first","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University  Toyoake Aichi Japan"},{"name":"Departments of Medical Genetics and Genomics School of Medicine Sapporo Medical University  Sapporo Japan"},{"name":"Department of Obstetrics and Gynecology School of Medicine Sapporo Medical University  Sapporo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yui","family":"Shichiri","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University  Toyoake Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Sugimoto","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health University  Toyoake Aichi 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