Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations

Abstract

CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22q11. The deletion within the chromosome region of 22q11 may occur in patients with dysmorphologic and cardiological syndromes: DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CAFS). In this study, using N25 (D22S75) DiGeorge chromosome region probe. fluorescence in situ hybridization (FISH) analyses were performed on 32 patients with congenital heart diseases. Twenty-nine of 32 patients had conotruncal heart disease. A 22q11 deletion was detected in two patients (6.9%) of the 29 patients with conotruncal heart disease. One of our 22qdel (+) patients had unilateral facial nerve palsy. Although it is not a frequent finding, unilateral facial nerve palsy will be included among the symptoms of CATCH 22 syndrome. After careful clinical evaluation of patients with conotruncal cardiac anomalies, only syndromic cases should be screened for this deletion.