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Keywords:

  • 8q12 microduplication syndrome;
  • copy number variation;
  • cytogenetics;
  • Duane retraction syndrome;
  • DURS1

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.