Author: Michael A. Evans, MD – Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern Feinberg School of Medicine


A 4-year-old with pronounced facial features and a history of supravalvar aortic stenosis presents to the preoperative holding area prior to general anesthesia for computed tomography (CT) coronary angiogram. On physical exam the child has a broad forehead, upturned nose, long philtrum, and stellate irises. Which of the following chromosomes MOST LIKELY has a microdeletion detected on fluorescence in situ hybridization (FISH) ?