Rare case of live born with confirmed mosaic trisomy 17 and review of the literature.
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.
Department of Pediatrics San Antonio Military Medical Center 3551 Roger Brooke Drive Fort Sam Houston 78234 Texas.
Austin
A
Baltensperger
Naval Medical Center Portsmouth 620 John Paul Jones Cir Portsmouth 23708 Virginia.
Gayle
G
Haischer
Department of Pediatrics San Antonio Military Medical Center 3551 Roger Brooke Drive Fort Sam Houston 78234 Texas.
Luis
L
Rohena
Aneuploidy; Trisomy 17; mosaic