Rare case of live born with confirmed mosaic trisomy 17 and review of the literature

Austin Baltensperger; Gayle Haischer; Luis Rohena

doi:10.1002/ccr3.397

Rare case of live born with confirmed mosaic trisomy 17 and review of the literature

Austin Baltensperger, Gayle Haischer, Luis Rohena^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

Key Clinical Message: 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.

Original language	English
Pages (from-to)	420-424
Number of pages	5
Journal	Clinical Case Reports
Volume	4
Issue number	4
DOIs	https://doi.org/10.1002/ccr3.397
State	Published - 1 Apr 2016

Keywords

Aneuploidy
Mosaic
Trisomy 17

Access to Document

10.1002/ccr3.397

Cite this

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title = "Rare case of live born with confirmed mosaic trisomy 17 and review of the literature",

abstract = "Key Clinical Message: 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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AU - Rohena, Luis

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AB - Key Clinical Message: 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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