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

ABSTRACT: 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.

SUBMITTER: Shimosato Y 

PROVIDER: S-EPMC5771925 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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

Shimosato Yuko Y   Tanoshima Reo R   Tsujimoto Shin-Ichi SI   Takeuchi Masanobu M   Sasaki Koji K   Kajiwara Ryosuke R   Goto Hiroaki H   Nagai Junichi J   Yanagimachi Masakatsu D MD   Ito Shuichi S   Yokota Shumpei S  

Clinical case reports 20171205 1

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. ...[more]

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