Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome (pages 30–37)
Hagit N. Baris, 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
Article first published online: 30 SEP 2013 | DOI: 10.1002/ccr3.11
A patient with syndromic Duane retraction syndrome harbors a chromosome 8p11.1q13.2 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.