An Infant Diagnosed With 22q11.2 Deletion Syndrome Following Frequent Apneic Attacks

Abstract

22q11.2 deletion syndrome (DS) is a microdeletion syndrome that pediatricians may encounter. It has a distinctive presentation and is often diagnosed based on a few characteristic symptoms. However, 22q11.2 DS with apnea as the initial symptom has never been reported. In this report, we describe the case of a one-month-old infant diagnosed with 22q11.2 DS due to apneic attacks. Early diagnosis of 22q11.2 DS is crucial because it enables appropriate intervention.

Keywords: 22q11.2 deletion syndrome; anemia; apneic attack; hypocalcemia; mixed apnea.