Terminal 14q Deletion and Duplication with Gastrointestinal and Pulmonary Disease

Abstract

Terminal deletions of 14q are rare but have typical clinical findings whereas distal duplications of 14q are less well characterized. The combination of terminal deletion and distal duplication of 14q has only been reported once before. Neither terminal deletions nor duplications are consistently reported to have gastrointestinal or pulmonary manifestations. We report a terminal deletion and a distal inverted duplication of 14q in a patient with multiple anomalies; duodenal malrotation, feeding intolerance, cholestasis, tracheo-laryngo-pharyngomalacia and small bilateral congenital cystic adenomatoid malformations with severe obstructive sleep apnea. This is the first report of gastrointestinal and pulmonary features in a patient with both terminal 14q deletion and distal 14q duplication.