Investigators at Bambino Genu Children's Hospital, Rome, and multiple additional centers in Italy conducted a retrospective and prospective study of clinical manifestations at diagnosis and during follow-up of 228 patients with 22q11.2 deletion syndrome. Clinical diagnosis, confirmed by cytogenic or molecular analysis, was made before 2 years of age in 71% of patients. Median age at diagnosis was 4 months (range 0 to 36 years 10 months). Early diagnosis was predominantly related to heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, speech and language impairment, developmental delay and facial features were the main diagnostic elements. During follow-up, the frequency of autoimmune manifestations (P = 0.015) and speech disorders (P = 0.002) increased. Psychomotor and speech/language developmental delay were reported in 48% and 53% cases, respectively, leading to the diagnosis in subjects older than 2 years. Orthopedic abnormalities, mainly scoliosis and congenital clubfoot, were observed in 78 of 217 patients. [1]

COMMENTARY. The syndrome 22q11.2 deletion, also known as DiGeorge (DGS), velo-cardio-facial (VCFS), cono-truncal-anomaly-face (CTAF), Shprintzen, Strong, Sedlackova, Cayler cardiofacial, and congenital thymic aplasia syndromes, is of interest particularly to the cardiologist in patients presenting in early infancy. In children older than 2 years, the neurologist is consulted because of speech and language delay and psychomotor behavioral disorders. Symptoms of hypocalcemia may complicate heart anomalies in the neonatal period and behavioral disorders in older children. Patients of all ages share the characteristic dysmorphic features of hypertelorism, broad nose tip, small mouth, and ear anomalies. The main presenting features of 22q11.2 deletion syndrome vary with the patient's age [2]. The mnemonic, CATCH-22 is often applied to the diagnostic features: C-Cardiac abnormality (tetralogy of Fallot): A-Abnormal facies (hypertelorism);T-Thymic aplasia; C-Cleft palate; H-Hypocalcemia /hypoparathyroidism; 22-Chromosome abnormality [3].