How Much do we Know About the Findings of 22q11.2 Deletion Syndrome?: A Single-Centre Study with 11-Year Follow-Up

Abstract

Purpose: 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with multisystem involvement characterized by cardiac defects, immunodeficiency and hypocalcemia. Variable expression and a wide range of clinical findings make it difficult for clinicians to decide on the test.Methods: Evaluation was made of the clinical findings of patients who underwent the FISH test for 22q11.2 deletion syndrome between 2006 and 2017.Results: Of the 180 patients, 152 (84.45%) had cardiac defects, 5 (2.78%) had immune defects, 132 (73.4%) had dysmorphic findings and 52 (28.89%) had growth / developmental delay. Ten patients had 22q11.2 deletion syndrome (5.56%) and 9 of these had cardiac defects. Hypocalcemia was present in 5 (50%) patients and only one patient had immunodeficiency. Conclusion:In this study, the accuracy of the indication was evaluated retrospectively based on the clinical findings of patients who underwent FISH analysis for 22q11.2 deletion syndrome. In cases with congenital cardiac defects, although 22q11.2 deletion syndrome is one of the possible diagnoses of the clinician, a detailed examination of the defect type before testing will increase the diagnosis rate. It should be kept in mind that this syndrome should be considered in the presence of major findings such as immunodeficiency or hypocalcemia.