Rare case of live born with confirmed mosaic trisomy 17 and review of the literature

Abstract

Key Clinical Message: This article describes both previously reported as well as new phenotypic features in a trisomy 17 mosaic patient. The gold standard for postnatal diagnosis remains fibroblast analysis, though the level of mosaicism does not correlate with prognosis. A normal ultrasound in the setting of positive amniocentesis appears a reassuring indicator.