The 22q11.2 deletion in African‐American patients: An underdiagnosed population?

摘要: Findings associated with the 22q11.2 deletion often include congenital heart malformations, palatal anomalies, immunodeficiency, hypocalcemia, and developmental delay or learning disabilities. Often clinical suspicion of diagnosis in a patient one more these findings is heightened based on presence characteristic facial appearance. In our large cohort 370 patients deletion, we report under-representation African-Americans group, as well as, paucity craniofacial dysmorphism patients. We note that absence typical features may result decreased ascertainment this population and, furthermore, implementation palliative care, cognitive remediation, recurrence risk counseling. We, therefore, suggest clinician’s threshold should be lower African-American