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Cytogenetic and fluorescence<jats:italic>in situ<\/jats:italic>hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13)t(13;16)(q33;p13.3)]. Specific BAC-probes were used to confirm the extent of the 13q deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2350-7-2","type":"journal-article","created":{"date-parts":[[2006,1,23]],"date-time":"2006-01-23T12:43:36Z","timestamp":1138020216000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature"],"prefix":"10.1186","volume":"7","author":[{"given":"Brian P","family":"Brooks","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne M","family":"Meck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bassem R","family":"Haddad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Bendavid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Blain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey A","family":"Toretsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,1,13]]},"reference":[{"issue":"4","key":"110_CR1","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1002\/ajmg.1320560406","volume":"56","author":"ML Martinez-Frias","year":"1995","unstructured":"Martinez-Frias ML: Primary midline developmental field. 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