{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:09:22Z","timestamp":1761718162405},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,12,10]],"date-time":"2010-12-10T00:00:00Z","timestamp":1291939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genomic rearrangements are increasingly recognized as important contributors to human disease. Here we report on an 11\u00bd\u2010year\u2010old child with myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay, and a complex 6p25 genomic rearrangement. We have employed oligonucleotide\u2010based comparative genomic hybridization arrays (aCGH) of different resolutions (44 and 244K) as well as a 1\u2009M single nucleotide polymorphism (SNP) array to analyze this complex rearrangement. Our analyses reveal a complex rearrangement involving a \u223c2.21\u2009Mb interstitial deletion, a \u223c240\u2009kb terminal deletion, and a 70\u201380\u2009kb region in between these two deletions that shows maintenance of genomic copy number. The interstitial deletion contains eight known genes, including three Forkhead box containing (FOX) transcription factors (<jats:italic>FOXQ1<\/jats:italic>, <jats:italic>FOXF2<\/jats:italic>, and <jats:italic>FOXC1<\/jats:italic>). The region maintaining genomic copy number partly overlaps the dual specificity protein phosphatase 22 (<jats:italic>DUSP22<\/jats:italic>) gene. Array analyses suggest a homozygous loss of genomic material at the 5\u2032 end of <jats:italic>DUSP22<\/jats:italic>, which was corroborated using TaqMan\u00ae copy number analysis. It is possible that this homozygous genomic loss may render both copies of <jats:italic>DUSP22<\/jats:italic> or its products non\u2010functional. Our analysis suggests a rearrangement mechanism distinct from a previously reported replication\u2010based error\u2010prone mechanism without template switching for a specific 6p25 rearrangement with a 1.22\u2009Mb interstitial deletion. Our study demonstrates the utility and limitations of using oligonucleotide\u2010based aCGH and SNP array technologies of increasing resolutions in order to identify complex DNA rearrangements and gene disruptions. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33751","type":"journal-article","created":{"date-parts":[[2010,12,10]],"date-time":"2010-12-10T20:03:02Z","timestamp":1292011382000},"page":"154-163","source":"Crossref","is-referenced-by-count":13,"title":["A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia"],"prefix":"10.1002","volume":"155","author":[{"given":"Jirair K.","family":"Bedoyan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marci 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