Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia

We report two male siblings with SDS. They have the same compound heterozygous mutations. Only one of the siblings acquired cytogenetic abnormality of i(7q) 2 years after diagnosis, became transfusion‐dependent, and underwent allogeneic hematopoietic stem cell transplantation. These cases indicate t...

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Detalles Bibliográficos
Autores principales: Shimosato, Yuko, Tanoshima, Reo, Tsujimoto, Shin‐ichi, Takeuchi, Masanobu, Sasaki, Koji, Kajiwara, Ryosuke, Goto, Hiroaki, Nagai, Junichi, Yanagimachi, Masakatsu D., Ito, Shuichi, Yokota, Shumpei
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/PMC5771925/
https://www.ncbi.nlm.nih.gov/pubmed/29375851
http://dx.doi.org/10.1002/ccr3.1249
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author Shimosato, Yuko
Tanoshima, Reo
Tsujimoto, Shin‐ichi
Takeuchi, Masanobu
Sasaki, Koji
Kajiwara, Ryosuke
Goto, Hiroaki
Nagai, Junichi
Yanagimachi, Masakatsu D.
Ito, Shuichi
Yokota, Shumpei
author_facet Shimosato, Yuko
Tanoshima, Reo
Tsujimoto, Shin‐ichi
Takeuchi, Masanobu
Sasaki, Koji
Kajiwara, Ryosuke
Goto, Hiroaki
Nagai, Junichi
Yanagimachi, Masakatsu D.
Ito, Shuichi
Yokota, Shumpei
author_sort Shimosato, Yuko
collection PubMed
description We report two male siblings with SDS. They have the same compound heterozygous mutations. Only one of the siblings acquired cytogenetic abnormality of i(7q) 2 years after diagnosis, became transfusion‐dependent, and underwent allogeneic hematopoietic stem cell transplantation. These cases indicate that i(7q) is associated with significant cytopenia in SDS patients.
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spelling pubmed-57719252018-01-26 Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia Shimosato, Yuko Tanoshima, Reo Tsujimoto, Shin‐ichi Takeuchi, Masanobu Sasaki, Koji Kajiwara, Ryosuke Goto, Hiroaki Nagai, Junichi Yanagimachi, Masakatsu D. Ito, Shuichi Yokota, Shumpei Clin Case Rep Case Reports We report two male siblings with SDS. They have the same compound heterozygous mutations. Only one of the siblings acquired cytogenetic abnormality of i(7q) 2 years after diagnosis, became transfusion‐dependent, and underwent allogeneic hematopoietic stem cell transplantation. These cases indicate that i(7q) is associated with significant cytopenia in SDS patients. John Wiley and Sons Inc. 2017-12-05 /pmc/articles/PMC5771925/ /pubmed/29375851 http://dx.doi.org/10.1002/ccr3.1249 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 (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Shimosato, Yuko
Tanoshima, Reo
Tsujimoto, Shin‐ichi
Takeuchi, Masanobu
Sasaki, Koji
Kajiwara, Ryosuke
Goto, Hiroaki
Nagai, Junichi
Yanagimachi, Masakatsu D.
Ito, Shuichi
Yokota, Shumpei
Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
title Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
title_full Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
title_fullStr Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
title_full_unstemmed Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
title_short Association of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
title_sort association of isochromosome (7)(q10) in shwachman–diamond syndrome with the severity of cytopenia
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771925/
https://www.ncbi.nlm.nih.gov/pubmed/29375851
http://dx.doi.org/10.1002/ccr3.1249
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