The present study reports the case of a 3-h old male with a de novo unbalanced t(15;22) translocation and velo-cardio-facial syndrome (VCFS), with other abnormalities. The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond-shaped eyes, a long and wide nose, small and low-set ears, tetralogy of Fallot, cryptorchidism and varus equinus. Standard lymphocyte cytogenetic analysis using G-banding demonstrated a 45,XY,-22,der (15),t(15;22)(q26.2;q12) karyotype. Fluorescent in situ hybridization with DiGeorge/VCFS TUPLE 1 confirmed 22q11 deletions. These cytogenetic aspects appear to be rare in the etiology of VCFS, as >1% of all 22q11 deletions are the result of an unbalanced translocation, which involves chromosomes 22 and another chromosome. To the best of our knowledge, this is the second reported case where the clinical features associated with VCFS are combined with an unbalanced (15;22) translocation involving the critical 22q11.2 region.
Keywords: 22q11.2 deletion; cleft palate; unbalanced (15;22) translocation; velo-cardio-facial syndrome.