Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region

Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations. This rare case might help to understand the genotype‐phenotype spectrum in infants with 10...

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Detalles Bibliográficos
Autores principales: Kim, Saet Byeol, Kim, Young‐Eun, Jung, Ji Mi, Jin, Hye Young, Lim, Yun‐Jung, Chung, Mi Lim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538072/
https://www.ncbi.nlm.nih.gov/pubmed/28781861
http://dx.doi.org/10.1002/ccr3.1070
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author Kim, Saet Byeol
Kim, Young‐Eun
Jung, Ji Mi
Jin, Hye Young
Lim, Yun‐Jung
Chung, Mi Lim
author_facet Kim, Saet Byeol
Kim, Young‐Eun
Jung, Ji Mi
Jin, Hye Young
Lim, Yun‐Jung
Chung, Mi Lim
author_sort Kim, Saet Byeol
collection PubMed
description Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations. This rare case might help to understand the genotype‐phenotype spectrum in infants with 10p deletion.
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spelling pubmed-55380722017-08-04 Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region Kim, Saet Byeol Kim, Young‐Eun Jung, Ji Mi Jin, Hye Young Lim, Yun‐Jung Chung, Mi Lim Clin Case Rep Case Reports Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations. This rare case might help to understand the genotype‐phenotype spectrum in infants with 10p deletion. John Wiley and Sons Inc. 2017-07-11 /pmc/articles/PMC5538072/ /pubmed/28781861 http://dx.doi.org/10.1002/ccr3.1070 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Kim, Saet Byeol
Kim, Young‐Eun
Jung, Ji Mi
Jin, Hye Young
Lim, Yun‐Jung
Chung, Mi Lim
Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region
title Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region
title_full Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region
title_fullStr Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region
title_full_unstemmed Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region
title_short Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region
title_sort clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538072/
https://www.ncbi.nlm.nih.gov/pubmed/28781861
http://dx.doi.org/10.1002/ccr3.1070
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