case_images: PMC11817255_01
case_images: PMC11817255_02
case_images: The result of array-CGH of the patient. Zero value indicates equal fluorescence intensity ratio between the sample and reference. Copy number losses shifted the ratio toward left (red) whereas copy number gains towards the right side (blue). Our result showed the deletion of short arm from 18p11.32 to p11.21 region (14.79 Mb).
case_images: diagnostics-15-00358-g001.jpg
case_images: PMC11817255_02_diagnostics-15-00358-g001.jpg
case_images: diagnostics-15-00358-f001
case_images: DNA taken from peripheral blood revealed a deletion of the short arm from the 18p11.32 to p11.21 region (14.79 Mb) affecting 191 genes, of which 65 were protein-coding genes (Figure 1). Despite the large size of the deletion, its precise size and location had not been detected previously by karyotyping.