{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T19:47:39Z","timestamp":1778960859007,"version":"3.51.4"},"reference-count":21,"publisher":"Cold Spring Harbor Laboratory","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:p>We present a case of 9p\u2013 syndrome with a complex chromosomal event originally characterized by the classical karyotype approach as 46,XX,der(9)t(9;13)(p23;q13). We used advanced technologies (Bionano Genomics genome imaging and 10\u00d7 Genomics sequencing) to characterize the location of the translocation and accompanying deletion on Chromosome 9 and duplication on Chromosome 13 with single-nucleotide breakpoint resolution. The translocation breakpoint was at Chr 9:190938 and Chr 13:50850492, the deletion at Chr 9:1\u2013190938, and the duplication at Chr 13:50850492\u2013114364328. We identified genes in the deletion and duplication regions that are known to be associated with this patient's phenotype (e.g., <jats:italic>ZIC2<\/jats:italic> in dysmorphic facial features, <jats:italic>FOXD4<\/jats:italic> in developmental delay, <jats:italic>RNASEH2B<\/jats:italic> in developmental delay, and <jats:italic>PCDH9<\/jats:italic> in autism). Our results indicate that clinical genomic assessment of individuals with complex karyotypes can be refined to a single-base-pair resolution when utilizing Bionano and 10\u00d7 Genomics sequencing. With the 10\u00d7 Genomics data, we were also able to characterize other variation (e.g., loss of function) throughout the remainder of the patient's genome. Overall, the Bionano and 10\u00d7 technologies complemented each other and provided important insight into our patient with 9p\u2013 syndrome. Altogether, these results indicate that newer technologies can identify precise genomic variants associated with unique patient phenotypes that permit discovery of novel genotype\u2013phenotype correlations and therapeutic strategies.<\/jats:p>","DOI":"10.1101\/mcs.a005348","type":"journal-article","created":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T23:07:54Z","timestamp":1592003274000},"page":"a005348","source":"Crossref","is-referenced-by-count":6,"title":["Precise breakpoint detection in a patient with 9p\u2013 syndrome"],"prefix":"10.1101","volume":"6","author":[{"given":"Jeffrey","family":"Ng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleanor","family":"Sams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dustin","family":"Baldridge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milinn","family":"Kremitzki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel J.","family":"Wegner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina","family":"Lindsay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Fulton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. Sessions","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tychele N.","family":"Turner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2020,6,12]]},"reference":[{"key":"2021112406082039000_6.3.a005348.1","first-page":"17","article-title":"Deletion of the short arm of Chromosome no.9 (46,9p\u2013): a new deletion syndrome","volume":"16","year":"1973","journal-title":"Ann Genet"},{"key":"2021112406082039000_6.3.a005348.2","first-page":"11","article-title":"The 9p\u2013 syndrome","volume":"19","year":"1976","journal-title":"Ann Genet"},{"key":"2021112406082039000_6.3.a005348.3","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-017-3911-3"},{"key":"2021112406082039000_6.3.a005348.4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.152"},{"key":"2021112406082039000_6.3.a005348.5","doi-asserted-by":"publisher","DOI":"10.1086\/302606"},{"key":"2021112406082039000_6.3.a005348.6","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"2021112406082039000_6.3.a005348.7","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-27378-1_32"},{"key":"2021112406082039000_6.3.a005348.8","doi-asserted-by":"publisher","DOI":"10.1101\/gr.248682.119"},{"key":"2021112406082039000_6.3.a005348.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1809315"},{"key":"2021112406082039000_6.3.a005348.10","unstructured":"Garrison E , Marth G . 2012. 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