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

Shimosato Yuko | Zendy; Tanoshima Reo | Zendy; Tsujimoto Shinichi | Zendy; Takeuchi Masanobu | Zendy; Sasaki Koji | Zendy; Kajiwara Ryosuke | Zendy; Goto Hiroaki | Zendy; Nagai Junichi | Zendy; Yanagimachi Masakatsu D. | Zendy; Ito Shuichi | Zendy; Yokota Shumpei | Zendy

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Association 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.

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