Figure 1 | Human Genome Variation

Figure 1

From: A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

Figure 1

The results of the radiological and genetic examinations. Computed tomography scans focused on the middle ears (a; right side, b; left side) show that bilateral lateral semicircular canals are dilated, shortened and non-circular (white arrows). Bilateral anterior superior semicircular canals and bilateral posterior semicircular canals are hypoplastic (black arrows). Hypoplastic findings are extreme on the right side. (c) Loss of genomic copy number involving 10q26.11q16.13 is shown using Chromosome View by Agilent Genomic Workbench (Agilent Technologies). (d) A 10q26.11q16.13 microdeletion is confirmed by fluorescence in situ hybridization (FISH). Red signals represent markers of 10p15.3 labeled on RP11–387K19, and green signals are targets of 10q26.13 labeled on RP11–57J8. A loss of the green signal (a white arrow) indicates a deletion of this region.

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