Open AccessRare case of live born with confirmed mosaic trisomy 17 and review of the literature
Author(s) -
Baltensperger Austin,
Haischer Gayle,
Rohena Luis
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.397
Subject(s) - amniocentesis , medicine , trisomy , mosaic , gold standard (test) , prenatal diagnosis , genetics , radiology , pregnancy , fetus , biology , history , archaeology
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.