Rare case of live born with confirmed mosaic trisomy 17 and review of the literature.
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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.
SUBMITTER: Baltensperger A
PROVIDER: S-EPMC4831399 | biostudies-other | 2016 Apr
REPOSITORIES: biostudies-other
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