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
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author Baltensperger, Austin
Haischer, Gayle
Rohena, Luis
author_facet Baltensperger, Austin
Haischer, Gayle
Rohena, Luis
author_sort Baltensperger, Austin
collection PubMed
description 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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spelling pubmed-48313992016-04-20 Rare case of live born with confirmed mosaic trisomy 17 and review of the literature Baltensperger, Austin Haischer, Gayle Rohena, Luis Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2016-03-16 /pmc/articles/PMC4831399/ /pubmed/27099743 http://dx.doi.org/10.1002/ccr3.397 Text en Published 2015. This article is a U.S. Government work and is in the public domain in the USA. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Baltensperger, Austin
Haischer, Gayle
Rohena, Luis
Rare case of live born with confirmed mosaic trisomy 17 and review of the literature
title Rare case of live born with confirmed mosaic trisomy 17 and review of the literature
title_full Rare case of live born with confirmed mosaic trisomy 17 and review of the literature
title_fullStr Rare case of live born with confirmed mosaic trisomy 17 and review of the literature
title_full_unstemmed Rare case of live born with confirmed mosaic trisomy 17 and review of the literature
title_short Rare case of live born with confirmed mosaic trisomy 17 and review of the literature
title_sort rare case of live born with confirmed mosaic trisomy 17 and review of the literature
topic Case Reports
url 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
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