Complete trisomy 14 mosaicism: first live-born case in Korea

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case...

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Detalles Bibliográficos
Autores principales: Hur, Yun Jung, Hwang, Taegyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488616/
https://www.ncbi.nlm.nih.gov/pubmed/23133487
http://dx.doi.org/10.3345/kjp.2012.55.10.393
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author Hur, Yun Jung
Hwang, Taegyu
author_facet Hur, Yun Jung
Hwang, Taegyu
author_sort Hur, Yun Jung
collection PubMed
description Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.
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spelling pubmed-34886162012-11-06 Complete trisomy 14 mosaicism: first live-born case in Korea Hur, Yun Jung Hwang, Taegyu Korean J Pediatr Case Report Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement. The Korean Pediatric Society 2012-10 2012-10-29 /pmc/articles/PMC3488616/ /pubmed/23133487 http://dx.doi.org/10.3345/kjp.2012.55.10.393 Text en Copyright © 2012 by The Korean Pediatric Society http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hur, Yun Jung
Hwang, Taegyu
Complete trisomy 14 mosaicism: first live-born case in Korea
title Complete trisomy 14 mosaicism: first live-born case in Korea
title_full Complete trisomy 14 mosaicism: first live-born case in Korea
title_fullStr Complete trisomy 14 mosaicism: first live-born case in Korea
title_full_unstemmed Complete trisomy 14 mosaicism: first live-born case in Korea
title_short Complete trisomy 14 mosaicism: first live-born case in Korea
title_sort complete trisomy 14 mosaicism: first live-born case in korea
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488616/
https://www.ncbi.nlm.nih.gov/pubmed/23133487
http://dx.doi.org/10.3345/kjp.2012.55.10.393
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