Rare case of live born with confirmed mosaic trisomy 17 and review of the literature. Issue 4 (16th March 2016)

• Record Type: Journal Article
• Authors: Baltensperger, Austin; Haischer, Gayle; Rohena, Luis
• Is Part Of: Clinical case reports. Volume 4:Issue 4(2016)
• Page Start: 420
• Page End: 424
• Publication Date: 2016-03-16
• Subjects: Aneuploidy -- mosaic -- Trisomy 17; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.397
• Languages: English
• ISSNs: 2050-0904

Abstract

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. Abstract : 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.