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

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10.1002/ccr3.397

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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.",

keywords = "Aneuploidy, Mosaic, Trisomy 17",

author = "Austin Baltensperger and Gayle Haischer and Luis Rohena",

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year = "2016",

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doi = "10.1002/ccr3.397",

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AU - Baltensperger, Austin

AU - Haischer, Gayle

AU - Rohena, Luis

PY - 2016/4/1

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N2 - 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.

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.

KW - Aneuploidy

KW - Mosaic

KW - Trisomy 17

UR - https://www.scopus.com/pages/publications/84992385530

U2 - 10.1002/ccr3.397

DO - 10.1002/ccr3.397

M3 - Article

AN - SCOPUS:84992385530

SN - 2050-0904

VL - 4

SP - 420

EP - 424

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 4

ER -

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

Abstract

Keywords

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