1.
Clin Case Rep
; 4(4): 420-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27099743
RESUMO
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.