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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 am...

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Bibliografiska uppgifter
I publikationen:Clin Case Rep
Huvudupphovsmän: Baltensperger, Austin, Haischer, Gayle, Rohena, Luis
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2016
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4831399/
https://ncbi.nlm.nih.gov/pubmed/27099743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.397
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