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Structural and copy number variants of chromosome 13 have been implicated in MAC; however, the specific loci involved in disease pathogenesis have not been well\u2010defined. Herein we report a newborn with syndromic degenerative anophthalmia and a complex de novo rearrangement of chromosome 13q. Long\u2010read genome sequencing improved the resolution and clinical interpretation of a duplication\u2013triplication\/inversion\u2013duplication (DUP\u2010TRP\/INV\u2010DUP) and terminal deletion. Sequence features at the breakpoint junctions suggested microhomology\u2010mediated break\u2010induced replication (MMBIR) of the maternal chromosome as the origin. Comparing this rearrangement to previously reported copy number alterations in 13q, we refine a putative dosage\u2010sensitive critical region for MAC that might provide new insights into its molecular etiology.<\/jats:p>","DOI":"10.1002\/ajmg.a.62676","type":"journal-article","created":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T10:53:18Z","timestamp":1644058398000},"page":"1589-1594","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Long\u2010read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9624-0399","authenticated-orcid":false,"given":"Pierre K.","family":"Boerkoel","sequence":"first","affiliation":[{"name":"MD Undergraduate Program University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Dixon","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver British Columbia Canada"},{"name":"Canada's Michael Smith Genome Sciences Centre, BC Cancer  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie","family":"Fitzsimons","sequence":"additional","affiliation":[{"name":"Kooteney Lake Hospital  Nelson British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaoqing","family":"Shen","sequence":"additional","affiliation":[{"name":"Canada's Michael Smith Genome Sciences Centre, BC Cancer  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Huynh","sequence":"additional","affiliation":[{"name":"Provincial Medical Genetics Program Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamilla","family":"Schlade\u2010Bartusiak","sequence":"additional","affiliation":[{"name":"Department of Pathology BC Children's Hospital, BC Women's Hospital &amp; Health Centre  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luka","family":"Culibrk","sequence":"additional","affiliation":[{"name":"Canada's Michael Smith Genome Sciences Centre, BC Cancer  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Chan","sequence":"additional","affiliation":[{"name":"Canada's Michael Smith Genome Sciences Centre, BC Cancer  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3097-241X","authenticated-orcid":false,"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver British Columbia Canada"},{"name":"Provincial Medical Genetics Program Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J. 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