The term “22q11 deletion syndrome” includes DiGeorge syndrome, velocardial- facial syndrome, and conotruncal anomaly-face syndrome and occurs with the microdeletions in 22q11 chromosomal region. Most significant clinical features are cleft palate, cardiac defects, characteristic facial appearance, timus hypoplasia, hypoparathyroidism and difficulties in speech and eating. Concerning large clinical spectrum of the disease, our case together with rare manifestations such as multicystic kidney, thrombocytopenia and giant thrombocytes is presented as a variant of the 22q11 microdeletion syndrome.

Keywords: DiGeorge, konotrunkal anomali yüz sendromu, VCFS, 22q11 delesyonu, conotruncal anomaly-face syndrome, 22q11 deletion