Clinical features of 22q11.2 deletion syndrome

chromosome 22

Clinical features of 22q11.2 deletion syndrome also known as DiGeorge syndrome.

The authors analyzed clinical manifestations of DiGeorge syndrome caused by deletion 22q11.2 in a large cohort of patients in one Israeli hospital. The studied group included 98 patients. Diagnosis was confirmed by cytogenetic examination in all cases. Males and females were represented equally (50 males, 48 females). The patients’ age varied from 2 to 49 years. The median age upon diagnosis was 2 years. Recurrent infections were the most common manifestation, they were reported in 76/98 patients. The second most common abnormalities were congenital heart diseases (61/98). Ventricular septal defects were reported in 25 patients, tetralogy of Fallot in 14, atrial septal defect and patent foramen ovale were found in 8 patients, each. Otorhinolaryngological disorders were seen in 54 patients, 50 of whom had defects of the palate. Facial dysmorphism was evident in 40 patients. Speech delay was found in 30 patients, developmental delay in 27. The authors specifically emphasized immunological defects. Anemia was found in 26% of patients. 20 patients (24% of examined) had thrombocytopenia, although platelet counts were found to be inversely associated with age. Five patients had lymphopenia. Hypocalcemia was reported in 25 patients. Analysis of the symptoms leading to the initial diagnosis showed that the most common reasons for examination were congenital heart defects (43%), speech delay (28%) and palatal abnormalities (27%). The majority of patients (90%) were vaccinated with live vaccines and none had significant adverse events. Of the 27 patients hospitalized due to infection, pneumonia was a leading cause in 13. Basically the reported parameters were similar to other publications on this issue. The evident increase in occurrence of chronic infections may be explained by 1) broader criteria in defining recurrent infections, and 2) the emphasis of the center on the immunologic features of DiGeorge syndrome.

Nissan E. et al. “Clinical features in a large cohort of patients with 22q11.2 deletion syndrome”. “J. Pediatrics” 2021, v. 238, 215-220.