A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease-Reference-Cited by-同舟云学术

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A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease

Published:2020-01 Issue:1 Volume:29 Page:65-68
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Sherlaw-Sturrock Charlotte A.,Cassidy Geraldine,Glover Kate,Naik Swati

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference8 articles.

1. Rare case of live born with confirmed mosaic trisomy 17 and review of the literature.;Baltensperger;Clin Case Rep,2016

2. Mosaic trisomy 17: variable clinical and cytogenetic presentation.;Daber;Am J Med Genet A,2011

3. Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.;Genuardi;Eur J Hum Genet,1999

4. Trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts.;Lesca;Prenat Diagn,1999

5. A clinical and molecular study of mosaicism for trisomy 17.;Shaffer;Hum Genet,1996

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