GENETIC COUNSELING, cilt.24, sa.3, ss.337-341, 2013 (SCI-Expanded)
Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome: Pulmonary agenesis is a rare congenital anomaly presenting with normal karyotype in most of the cases. Rarely pulmonary agenesis is associated with chromosomal abnormalities and other genetic disorders such as Oculo-auriculo-vertebral spectrum, VACTERL association and velo-cardio-facial syndrome. This report presents a patient with pulmonary agenesis, pulmonary sling anomaly and Down syndrome.