Both authors contributed equally to this work.
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
Article first published online: 30 SEP 2013
© 2013 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
Clinical Case Reports
Volume 1, Issue 1, pages 30–37, October 2013
How to Cite
Clinical Case Reports 2013; 1(1): 30–37
- Issue published online: 25 OCT 2013
- Article first published online: 30 SEP 2013
- Manuscript Accepted: 26 AUG 2013
- Manuscript Revised: 19 AUG 2013
- Manuscript Received: 9 MAY 2013
- National Institutes of Health. Grant Number: R01 EY15298
- 8q12 microduplication syndrome;
- copy number variation;
- Duane retraction syndrome;
Key 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.