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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Detalles Bibliográficos
Autores principales: Baltensperger, Austin, Haischer, Gayle, Rohena, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831399/
https://www.ncbi.nlm.nih.gov/pubmed/27099743
http://dx.doi.org/10.1002/ccr3.397
Descripción
Sumario: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.

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