PMC:2694971 / 14927-15576 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/2694971","sourcedb":"PMC","sourceid":"2694971","source_url":"https://www.ncbi.nlm.nih.gov/pmc/2694971","text":"Custom-Designed Array CGH\nWe hypothesized that some of the cases of ACD/MPV in the cohort might be due to whole-gene deletions, as was seen for patients D1–D6. We therefore designed a 16q24 region-specific high-resolution 44K oligonucleotide microarray and used it to screen the 14 mutation-negative patients from our ACD cohort. This analysis revealed an ∼1.8 Mb microdeletion harboring FOXF1 in patient D8. In addition, two microdeletions, one ∼524 kb (patient D9) and one ∼145 kb (patient D10) in size, located ∼52 kb and ∼259 kb upstream of FOXF1, respectively, were detected (Figures 1B and 1G, Table 1). All three rearrangements arose de novo.","divisions":[{"label":"Title","span":{"begin":0,"end":25}}],"tracks":[]}