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

Clin Case Rep. 2017 Dec 5;6(1):125-128. doi: 10.1002/ccr3.1249. eCollection 2018 Jan.

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.

Keywords: Shwachman–Diamond syndrome; cytopenia; i(7q).

Publication types

  • Case Reports