Open AccessAssociation of isochromosome (7)(q10) in Shwachman–Diamond syndrome with the severity of cytopenia
Author(s) -
Shimosato Yuko,
Tanoshima Reo,
Tsujimoto Shinichi,
Takeuchi Masanobu,
Sasaki Koji,
Kajiwara Ryosuke,
Goto Hiroaki,
Nagai Junichi,
Yanagimachi Masakatsu D.,
Ito Shuichi,
Yokota Shumpei
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1249
Subject(s) - medicine , cytopenia , hematopoietic stem cell transplantation , abnormality , transplantation , gastroenterology , pediatrics , bone marrow , psychiatry
Key Clinical Message 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.