Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with <scp>S</scp>hwachman‐<scp>D</scp>iamond syndrome

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow (BM) failure, pancreatic insufficiency, and skeletal abnormalities. Mutations in the SBDS gene on chromosome arm 7q, explain 90% of SDS cases (Boocock et al, 2003). SBDS is essential for the assembly of mature ribosomes. Frequently SDS patients are compound heterozygotes for two common SBDS mutations (the 183_184...

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