FREQUENCY OF A 22Q11 DELETION IN PATIENTS WITH CONOTRUNCAL CARDIAC-MALFORMATIONS - A PROSPECTIVE-STUDY

Recent molecular studies have revealed that a 22q11 deletion is freque ntly detected in DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS). and conotruncal anomaly face syndrome (CTAFS). As one of the m ajor clinical manifestations in these three syndromes is conotruncal c ardiac malformation, we prospectively studied the frequency of a 22q11 deletion in a group of patients with conotruncal cardiac malformation , Fluorescence in situ hybridization (FISH) analyses using N25 (D22S75 ) DiGeorge Chromosome Region probe were performed on 64 patients with conotruncal cardiac malformation. who visited our clinic from October 1993 to January 1994. Of the 64 patients studied. a 22q11 deletion was detected in 5 patients (7.8%): 3 out of 30 patients with tetralogy of Fallot, one of three with interruption of the aortic arch, and one he mitruncus patient. No deletion was found in 16 patients with complete transposition of the great arteries, 8 with double outlet right ventri cle and 2, with aortopulmonary window. In these five patients with 22q 11 deletion, patient 1 was clinically diagnosed as having DGS, patient s 2 and 3 had CTAFS, and patient 4 had VCFS. Patient 5 could not be dy smorphologically evaluated. It was noteworthy that all patients with a 22q11 deletion, except a non-evaluated patient, had some symptoms of syndromes DCS, CTAFS or VCFS, and that we failed to identify a non-syn dromic 22q11 deletion positive patients in the present series of 64 pa tients. Conclusion This study suggests that it is, advisable to bear 2 2q11 deletion in mind when a patient with conotruncal cardiac anomalie s has some other features of DGS. VCFS or CTAFS.