Baris, Hagit NChan, Wai-ManAndrews, CarolineBehar, Doron MDonovan, Diana JMorton, CynthiaRanells, JudithPal, TuyaLigon, AzraEngle, Elizabeth2014-11-032013Baris, Hagit N, Wai-Man Chan, Caroline Andrews, Doron M Behar, Diana J Donovan, Cynthia C Morton, Judith Ranells, Tuya Pal, Azra H Ligon, and Elizabeth C Engle. 2013. “Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.” Clinical Case Reports 1 (1): 30-37. doi:10.1002/ccr3.11. http://dx.doi.org/10.1002/ccr3.11.2050-0904http://nrs.harvard.edu/urn-3:HUL.InstRepos:13347661Key Clinical Message A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to gain insight into genotype–phenotype correlation, and ultimately into molecular mechanisms that underlie human disease.en-US8q12 microduplication syndromecopy number variationcytogeneticsDuane retraction syndromeDURS1Journal Article2014-11-0310.1002/ccr3.11