Ann Lab Med.  2023 May;43(3):319-322. 10.3343/alm.2023.43.3.319.

Identification of SUZ12 Haploinsufficiency due to a 1.4-Mb Deletion at 17q11.2 in a Child With Overgrowth and Intellectual Disability Syndrome

• Park S
• Jang MA

• KMID: 2551720
• DOI: http://doi.org/10.3343/alm.2023.43.3.319

Figure

• 

  Fig. 1 Molecular investigation of our patient presenting with overgrowth and intellectual disability. (A) CytoScan Dx assay (Affymetrix, Santa Clara, CA, USA) results, including the weighted log2 ratio, revealing a 1.4-Mb deletion at 17q11.2. (B) Schematic representation of the 17q11.2 region showing the deletion as a red rectangle. SUZ12 is shown as a blue rectangle, and the 13 other protein-coding genes are shown as black rectangles.

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