Publication: Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
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Date
2013
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Blackwell Publishing Ltd
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Baris, 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.
Abstract
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.
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Keywords
8q12 microduplication syndrome, copy number variation, cytogenetics, Duane retraction syndrome, DURS1
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